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Open Access Review

Newborn Screening in Gaucher Disease: A Bright and Complicated Future

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165

Abstract

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on n [...]

1674 13071

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164

Abstract

This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

1434 8422

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163

Abstract

High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

1523 10899

Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Abstract

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

4877 19276

Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161

Abstract

Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometr [...]

2225 22572

Open Access Interview

An Interview with Dr. Mark Stoneking

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

1211 8059

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159

Abstract

After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor banding-based molecular cytogenetics. A slightly hyperdiploid karyotype with 43 chromosomes was described. The main aberrations comprised several unbalanced translocat [...]

1536 9103

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158

Abstract

In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-"long" alleles) (rs2234663) provided resistance to the most intensive form of dental caries. The groups of children with DFC (decompensated form of caries) were significantly different from the pooled group SFC (subcompensated form of cari [...]

1523 9683

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157

Abstract

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be [...]

1990 12729

Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156

Abstract

The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans: blood group chimerism, microchimerism, and fusion chimerism. Fusion chimerism may occur through several means. Sex-chromosome discordant chimerism refers to individuals with [...]

4616 53042

Open Access Original Research

Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates

Received: 01 March 2022;  Published: 14 June 2022;  doi: 10.21926/obm.genet.2202155

Abstract

In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal and hypoxic conditions. In addition, we studied the induction of epithelial–mesenchymal transition (EMT). The CDDP treatment under hypoxia indicated poor adhesion of MDA-MB-231 cells as well as significant repression of [...]

2269 9592

Open Access Review

Mechanisms and Approaches for Salt Tolerance in Turmeric: A Breeding Perspective

Received: 22 March 2022;  Published: 23 May 2022;  doi: 10.21926/obm.genet.2202154

Abstract

India is home to several medicinal herbs including turmeric. Turmeric is one of the major produces of India, primarily due to its unique and valuable medicinal and therapeutic properties. However, the growth and yield of turmeric are greatly affected by salt stress in certain parts of the country, especially those near water bodies where significant yield losses have been reported. To mitigate these losses caused by salt stress, certain plant breeding methods, transgenic approaches, and candidate genes along with i [...]

2146 14523

Open Access Review

From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian Reserve

Received: 25 August 2021;  Published: 26 April 2022;  doi: 10.21926/obm.genet.2202153

Abstract

In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functiona [...]

1557 12276

Open Access Original Research

The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships

Received: 07 January 2022;  Published: 24 April 2022;  doi: 10.21926/obm.genet.2202152

Abstract

We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA NTS, greatly facilitates analysis. We investigated the potential of defining unit classes in other plant genera and several animal genera as a step towards future phylogenetic analyses. Our results demonstrate that in in [...]

1462 8380

Open Access Research Article

Electroporation-Based Non-Viral Gene Delivery to Adipose Tissue in Mice

Received: 21 January 2022;  Published: 11 April 2022;  doi: 10.21926/obm.genet.2202151

Abstract

Adipose tissue is distributed throughout the body as fat depots. The amount of adipose tissue increases with age. In mice, epididymal fat depots in males and gonadal fat depots in females are associated with the reproductive system. Regarding fat depots in females, the adipose tissue under the skin can be easily exposed via surgery when the ovary, oviduct, and uterus are pulled out and exposed. As handling adipose tissue is relatively easy, adipocytes might be good targets for genetic manipulation (including gene d [...]

2579 21592

Open Access Review

Molecular Marker Analysis of Genetic Diversity in Maize: A Review

Received: 25 July 2021;  Published: 21 March 2022;  doi: 10.21926/obm.genet.2201150

Abstract

Maize is consumed as a food and used as an industrial product in the form of starch, pharmaceuticals, alcoholic beverages, oil, cosmetics, and textiles. In ancient times, landraces were more popular due to the presence of high genetic variability, resistance to biotic and abiotic factors, and the heterogeneous nature of maize; however, it has been replaced by improved and uniform cultivars with a higher yield. Modern maize has more homogeneity that enhances its vulnerability to biotic and abiotic stresses. Thus, we [...]

4537 28336

Open Access Original Research

The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing

Received: 02 September 2021;  Published: 25 February 2022;  doi: 10.21926/obm.genet.2201149

Abstract

This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a legal and sociological perspective. The analysis reveals that the regulations, consistent with that applied to other prenatal screening techniques, fail to take proper a [...]

1893 28166

Open Access Interview

An Interview with Dr. Joep Geraedts

Received: 17 February 2022;  Published: 22 February 2022;  doi: 10.21926/obm.genet.2201148

1166 7134

Open Access Research Article

Correlation of Mutational Signatures in Cancer Genes with General Signatures

Received: 07 December 2021;  Published: 13 February 2022;  doi: 10.21926/obm.genet.2201147

Abstract

The occurrence of various mutation patterns, such as changes in the DNA sequence and the loss of some sequences, is called a “mutational signature,” and they represent the molecular fingerprints that exist for the type of mutation occurring in a specific gene. Our study elucidates the correlations of mutational signatures in frequently mutated cancer genes with general mutational signatures previously found for different cancers. We hypothesized that the top twenty most frequently mutated genes (MFMG) of a cancer t [...]

1535 10583

Open Access Short Communication

Newborn Screening in Latin America: A Window on the Evolution of Health Policy

Received: 22 August 2021;  Published: 21 January 2022;  doi: 10.21926/obm.genet.2201146

Abstract

Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in the region. We found trends suggesting that the decrease in infant mortality may be a prerequisite to investing in nationwide screening for rarer conditions. We also no [...]

1611 11780

Open Access Review

Anatomical Variation, Hominins, Species, and Self-Domestication

Received: 19 October 2021;  Published: 11 January 2022;  doi: 10.21926/obm.genet.2201145

Abstract

The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they place on the construction of similarities and differences in morphological traits, the differences in the number of base pairs in the genomes, and the number of similar gene clusters that code for traits (haplotypes) or are error seq [...]

2348 15257

Open Access Editorial

Acknowledgement to Reviewers of OBM Genetics in 2021

Received: 05 January 2022;  Published: 06 January 2022;  doi: 10.21926/obm.genet.2201144

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

1122 6747

Open Access Perspective

Understanding the Regulation of Transcription in Mental Illness

Received: 17 June 2021;  Published: 17 November 2021;  doi: 10.21926/obm.genet.2104143

Abstract

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolstered psychiatry. This t [...]

1451 9182

Open Access Original Research

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Abstract

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’ [...]

1830 11404

Open Access Original Research

Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

Abstract

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats. Numbers of FRAXE rep [...]

1838 11064

Open Access Opinion

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

Abstract

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screen [...]

1888 11653

Open Access Review

Addressing Uncertainty: The Emergence of the CRMS/CFSPID Diagnostic Category Following Newborn Screening for Cystic Fibrosis

Received: 29 July 2021;  Published: 29 September 2021;  doi: 10.21926/obm.genet.2103139

Abstract

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cystic fibrosis or “normal” categorie [...]

1779 12364

Open Access Review

Quadruple Screening in the Age of Cell-Free DNA: What are We Losing?

Received: 16 June 2021;  Published: 27 September 2021;  doi: 10.21926/obm.genet.2103138

Abstract

Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection for aneuploidy but also presents potential gaps in prenatal diagnosis including detection of open fetal defects and emerging data on prediction of adverse pregnancy outcomes. This review article provides a historical summary of the quadruple marker screen [...]

1793 26358

Open Access Research Article

Plant Breeding Integrated with Genomic-Enabled Prediction

Received: 09 June 2021;  Published: 15 September 2021;  doi: 10.21926/obm.genet.2103137

Abstract

Plant breeding programs have used conventional breeding methods, such as hybridization, induced mutations, and other methods to manipulate the plant genome within the species' natural genetic boundaries to improve crop varieties. However, repeatedly using conventional breeding methods might lead to the erosion of the gene reservoir, thereby rendering crops vulnerable to environmental stresses and hampering future progress in crop production, food and nutritional security, and socio-economic benefits. Integrating in [...]

1925 16327

Open Access Review

Prenatal Testing – What Is It Good For? A Review and Critique

Received: 22 June 2021;  Published: 01 September 2021;  doi: 10.21926/obm.genet.2103136

Abstract

The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing [...]

2495 19124

Open Access Original Research

About Cryptic Acrocentric Pericentromeric Abnormalities in Infertile

Received: 16 April 2021;  Published: 25 August 2021;  doi: 10.21926/obm.genet.2103135

Abstract

Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offer the first follow-up study to further explore this idea. Two specific molecular cytogenetic probe sets were established to elucidate such cryptic rearrangements together with chromosomal heteromorphisms of acrocentric centromeres. [...]

1726 9268

Open Access Technical Note

Encoding, Regression, and Classification of Transcription Factors’ Specificity and Methylation Effects

Received: 01 February 2021;  Published: 16 August 2021;  doi: 10.21926/obm.genet.2103134

Abstract

The methylation effects on protein-DNA interactions, which can be perceived as a special kind of specificity of transcription factors, have been successfully quantified in the last years by various methods. In this work, I give a summary about the sequence encoding scheme, the underlying additive model about specificity and methylation sensitivity, and the regression strategy to analyze Methyl-Spec-seq data. Then I explain why given the current experimental setup, it is more appropriate to model the methylation eff [...]

1950 8893

Open Access Review

Epigenetics and Medicine

Received: 23 March 2021;  Published: 30 July 2021;  doi: 10.21926/obm.genet.2103133

Abstract

“Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence” (https://www.cdc.gov/genomics/disease/epigenetics.htm). Epigenetic interactions, along with the genetic expression in innate cells, change the structure and function of chromatin, and thus, turn the genes on and off. Epigenetic changes influence dise [...]

2079 11034

Open Access Editorial

Genetic Screening of Cervical Cancer

Received: 29 June 2021;  Published: 19 July 2021;  doi: 10.21926/obm.genet.2103132

Abstract

Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepted criteria. Cervical cancer repr [...]

2505 15163

Open Access Review

Molecular Mechanisms of Feline Cancers

Received: 08 December 2020;  Published: 24 May 2021;  doi: 10.21926/obm.genet.2102131

Abstract

Feline cancers have not been studied as extensively as canine cancers, though they may offer similar advantages, with cats being immunocompetent animals subject to similar conditions as their human counterparts. The most common feline cancers include lymphoma, squamous cell carcinoma, sarcoma, and mammary tumors, though mast cell tumors were also investigated in this review. As the pathogenesis of many feline cancers remains unclear, this study seeks to elucidate some molecular mechanisms behind feline cancers. Fel [...]

3620 27065

Open Access Opinion

Imagining Life with a Genetic Disorder: The Challenge of Evaluating Health States that Exist from Birth

Received: 29 March 2021;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102130

Abstract

This article explores difficulties encountered by those with no personal experience of a chronic disease or disability in accurately evaluating the quality of life with a condition present from birth. In most countries, cost-effectiveness analysis relies on ratings of health states by members of the general population, who must try to imagine what life for those affected is like based on (usually brief) descriptions of the conditions. That task is challenging for reasons that have been well-discussed in the literat [...]

2117 10551

Open Access Original Research

Role of DNA Damage and MMP Loss in Radiosensitization-Induced Apoptosis by Ellagic Acid in HeLa Cells

Received: 22 September 2020;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102129

Abstract

Ellagic acid (EA) is a polyphenol found in grapes, pomegranates, walnuts, etc. exhibits anti-cancer properties. The current study was conducted to understand the radiosensitizing role of EA on HeLa cells. Monotherapy of EA and radiation was initially studied on HeLa cells. The addition of EA before the radiation treatment subsequently made DNA more susceptible to damage thereby developing DNA beaks, which are known to be lethal for cell survival. This was evaluated by performing comet and γ-foci formation ass [...]

1692 14616

Open Access Original Research

Modulation of Gene Expression in Human Breast Cancer MCF7 and Prostate Cancer PC3 Cells by the Human Copper-Binding Peptide GHK-Cu.

Received: 20 January 2021;  Published: 06 April 2021;  doi: 10.21926/obm.genet.2102128

Abstract

The human copper-binding peptide GHK-Cu is a naturally occurring small plasma tripeptide (glycyl-l-histidyl-l-lysine) with a high affinity for copper (2+). GHK-Cu has multiple biological effects. It is known to stimulate regeneration of skin, nervous tissue, bones, lungs and liver, protect liver from oxidative damage, restore activity of irradiated fibroblasts, reduce inflammation and increase levels of antioxidant enzymes. Recent studies established that GHK modulates activity of a number of genes. It has been sho [...]

6035 75034

Open Access Review

Current Progress in Cancer Immunotherapies Using Small Molecules Targeting PD-L1 Stability

Received: 11 January 2021;  Published: 24 March 2021;  doi: 10.21926/obm.genet.2101127

Abstract

PD-L1 is an immune checkpoint protein that is frequently overexpressed by the cells in the tumor microenvironment. PD-L1 binds to PD-1 present on the activated antitumor T-cells, which allows for tumor immune escape. The ability of the PD-1/PD-L1 axis to suppress antitumor immunity enables its application as a potential target for small-molecule-based immunotherapies. Targeting the PD-L1-mediated tumor immune evasion represents a promising approach for immune checkpoint blockade therapies. However, the existing mon [...]

2289 16767

Open Access Communication

Development of a Novel Pipette Tip-Aided Cell Cloning Method for The Effective Isolation of Genome-Edited Porcine Cell

Received: 11 October 2020;  Published: 10 March 2021;  doi: 10.21926/obm.genet.2101126

Abstract

Direct colony cloning of adherent mammalian cells using rings or dilution cloning has been used frequently for obtaining stable transfectants after gene delivery. As an alternative to these methods, successful isolation of the cells in a single colony is possible by placing a trypsin-immersed small paper disk onto the colony and subsequently picking up the paper with the assumption that it carries the trypsinized cells. However, the cloning success using this technique largely relies on the cell type used. In the p [...]

2161 11733

Open Access Review

Translating RNA Splicing Analysis into Diagnosis and Therapy

Received: 31 December 2020;  Published: 08 March 2021;  doi: 10.21926/obm.genet.2101125

Abstract

A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting the pathogenicity of genomic variants. Whilst targeted RT-PCR analysis remains a highly sensitive tool for assessing the splicing effects of known variants, RNA-seq can provide a more comprehensive transcriptome-wide analy [...]

2225 18445

Open Access Review

Genomic Analysis for Citrus Disease Detection

Received: 26 October 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101124

Abstract

Citrus is an important group of globally produced fruit crops, holding great economic, cultural, and health value. Belonging to the Rutacaeae family, the genus Citrus includes some of the most iconic and widely appreciated variants of fruits such as the orange, lemon, lime, grapefruit, and tangerine. The spread of various diseases threatens the worldwide production of citrus fruit crops. Diseases such as Asiatic citrus canker, citrus tristeza virus, citrus leprosis, and especially citrus greening disease (also know [...]

2393 17373

Open Access Communication

In vitro Electroporation in the Presence of CRISPR/Cas9 Reagents as a Safe and Effective Method for Producing Biallelic Knock-Out Porcine Embryos

Received: 01 September 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101123

Abstract

The production of genetically modified (GM) pigs is considered valuable in biomedical research for the development of model animals for various diseases and pigs with resistance against viral infection. The porcine genome may be modified using several methods, such as somatic cell nuclear transfer (SCNT) using GM cells as the SCNT donor, direct injection of the transgene or the genome editing components (GEC) into fertilized eggs referred to as zygotes, the in vitro electroporation (EP) of the zygotes in the presen [...]

2794 14063

Open Access Editorial

Acknowlegement to Reviewers of OBM Genetics in 2020

Received: 07 January 2021;  Published: 07 January 2021;  doi: 10.21926/obm.genet.2101122

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition di [...]

1395 6408

Open Access Short Communication

Successful i-GONAD in Brown Norway Rats by Modification of in vivo Electroporation Conditions

Received: 23 September 2020;  Published: 03 December 2020;  doi: 10.21926/obm.genet.2004121

Abstract

Improved-Genome editing via Oviductal Nucleic Acids Delivery (i-GONAD) was developed for in situ genome editing of the preimplantation embryos present within the oviductal lumen of mice. This method is based on intra-oviductal instillation of genome editing components and subsequent in vivo electroporation (EP) in the entire oviduct. Therefore, i-GONAD differs from the previous methods (i.e., zygote microinjection and in vitro EP) in producing genome-edited mice, which relied on ex vivo handling of preimplantation [...]

2959 14330

Open Access Original Research

Genetic Stability, Inheritance Patterns and Expression Stability in Biotech Crops

Received: 11 September 2020;  Published: 02 December 2020;  doi: 10.21926/obm.genet.2004120

Abstract

Demonstration of the stability of traits newly introduced into a plant genome via genetic engineering approaches comprise a significant portion of the safety assessment that these products undergo prior to receiving the requisite regulatory approvals enabling commercial authorization. Different regions of the world have different regulatory requirements and many ask similar questions from multiple and overlapping perspectives. The entire central dogma, that is stability at the DNA level, mRNA level and protein leve [...]

2291 13768

Open Access Review

In vivo Hepatocyte Genome Manipulation via Intravenous Injection of Genome Editing Components

Received: 09 August 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004119

Abstract

The liver is a major organ with a wide range of functions, including detoxification, protein synthesis, and bile production. Liver dysfunction causes liver diseases such as hepatic cirrhosis and hepatitis. To explore the pathogenesis of these liver diseases, and the therapeutic agents against them, mice have been widely used as animal models. Genetic manipulation is easy in mice via the administration of nucleic acids (NAs) in the tail-vein. In particular, hydrodynamics-based gene delivery (HGD) is a method based o [...]

2441 12955

Open Access Original Research

H-Ras Pre-mRNA Contains A Regulatory Non-coding RNA

Received: 25 June 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004118

Abstract

Non-coding RNAs (ncRNAs) have emerged as one of the most abundant regulatory molecules. However, their roles and functions are significantly different from those of proteins. Moreover, around 95% of the human genome contains non-coding DNA. ncRNAs contribute by far the majority of human transcriptional units, and the functions of the most are yet unknown. Here, we highlight that an important RNA sequence region, encompassing an exon-intron hairpin loop (also called IDX-rasISS1), of the H-Ras pre-mRNA may encode an [...]

2147 9042

Open Access Research Article

EBF1 Exhibits Crosstalk Regulation with ERα and ERβ in Some Hormone-Based Cancers

Received: 26 June 2020;  Published: 07 October 2020;  doi: 10.21926/obm.genet.2004117

Abstract

Estrogen-based cancers affect a substantial portion of the female population in the United States. While multiple studies have examined the effect of estrogen receptor alpha (ERα/ESR1) in cancer, the effects of ERβ/ESR2 are not as well understood in tumor tissues. Furthermore, there are few studies examining the role of specific binding partners of the estrogen receptors, such as early B-cell factor 1 (EBF1). EBF1 has been shown to have a role in B cell development and differentiation and is also know [...]

2143 10699

Open Access Review

Oncogenes Orchestrate Immunosuppressive Stroma in Gastric Adenocarcinoma

Received: 30 June 2020;  Published: 16 September 2020;  doi: 10.21926/obm.genet.2003116

Abstract

Gastric adenocarcinoma (GAC) is among the three most common cancers in the world. The majority of GAC patients are diagnosed in an advanced stage and have a median survival of ~9 months. There are limited effective therapeutic strategies available in the clinic and currently U.S. Food and Drug Administration (FDA) approved immune therapy is programmed death-1 (PD-1) antibodies (e.g. pembrolizumab) but only a few patients seem to benefit. Transformation to cancer occurs when multiple genes and cellular pathways are [...]

2261 9952

Open Access Opinion

Breeding “CRISPR” Crops1

Received: 21 April 2020;  Published: 13 August 2020;  doi: 10.21926/obm.genet.2003115

Abstract

The challenges which face the world today can be summed up in a few words: An increasingly congested world with dwindling areas of viable cultivated land and accelerating climate instability. The combined effect of these realities, together with the trend of striving to extend the average human life, puts the world on the path toward future catastrophe. This situation makes it imperative to seek realistic and practical solutions, which must be able to address food shortages and climate problems in a timely manner. [...]

2174 9962

Open Access Review

Detection of Circulating Tumor DNA in Solid Tumors

Received: 27 May 2020;  Published: 06 August 2020;  doi: 10.21926/obm.genet.2003114

Abstract

Cancer is characterized by sequential and progressive genetic and epigenetic alterations in key proto-oncogenes and tumor suppressor genes, which ultimately lead to tumor development. Advances in the technology of analysis of molecular mechanisms have increased the efficiency of clinical management of cancer patients. Recent years have witnessed a progressive development in technologies that enable the detection of specific molecular abnormalities associated with various types of solid tumors in body fluids, a proc [...]

2291 11610

Open Access Review

“Evolution” of Embryogenesis: Complexity of the Early Developmental Stages in the Animal Kingdom

Received: 16 March 2020;  Published: 02 July 2020;  doi: 10.21926/obm.genet.2003113

Abstract

Multicellularity has gained the advantage over the unicellular world by expanding the number of increasingly more complex tissues that achieve advanced and specific functions. This same event gave rise to the most evolved group of organisms, namely mammals. Even though the complexity of multicellular organisms does not necessarily provide them with excellent adaptation modes performed by unicellular and prokaryotic organisms, this complexity per se stands as one of the greatest phenomena in biology. However, there [...]

3093 20274

Open Access Original Research

Genetic Variants of Targetable Cancer-related Genes in Vestibular Schwannomas

Received: 02 May 2020;  Published: 28 June 2020;  doi: 10.21926/obm.genet.2002112

Abstract

Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here [...]

2211 11088

Open Access Review

Genetic Explanations for Fertility Disorders

Received: 02 May 2020;  Published: 23 June 2020;  doi: 10.21926/obm.genet.2002111

Abstract

This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or comple [...]

2273 12255

Open Access Review

Splicing HAC1/XBP1 mRNAs in Cytoplasm: The Non-Conventional mRNA Splicing Reaction in the Unfolded Protein Response

Received: 23 March 2020;  Published: 22 May 2020;  doi: 10.21926/obm.genet.2002110

Abstract

The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most evolutionarily conserved branch of UPR is mediated by the kinase/endoribonuclease Ire1. Ire1 mediates a cytosolic non-conventional mRNA splicing reaction of HAC1 mRNA in yeast and XBP1 mRNA in mammalian cells. The spliced [...]

2760 14069

Open Access Technical Note

HER2 FISH for Breast Cancer: Advances in Quantitative Image Analysis and Automation

Received: 02 March 2020;  Published: 13 May 2020;  doi: 10.21926/obm.genet.2002109

Abstract

Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of American Pathologists, for HER2 FISH, have evolved over time to improve test accuracy, and efforts have been made to better address the problems with the interpretation that are encountered with borderline-positive cases. S [...]

2619 24184

Open Access Research Article

Professionals’ Views on Offering Pre-Natal Testing for Adult Onset Cancer Susceptibility. Reconciling Personal and Professional Ethical Conflicts, Coping Strategies and Need for Policy Transparency

Received: 30 December 2019;  Published: 26 April 2020;  doi: 10.21926/obm.genet.2002108

Abstract

This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offering PND for AOCS, directly or indirectly, from professional and personal perspectives. Foetal medicine and genetics teams are accustomed to offering PND with the possibility of terminating an affected foetus on the basis [...]

2211 11042

Open Access Original Research

MSIGNET: A Bayesian Approach for Disease-associated Gene Network Identification

Received: 19 October 2019;  Published: 07 April 2020;  doi: 10.21926/obm.genet.2002107

Abstract

The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-associated genes is still an open challenge. To understand the functions of genes associated with a disease, we develop a Metropolis-Hastings sampling based SIGnificant NETwork (MSIGNET) identification approach. MSIGNET integrates diseas [...]

2166 11513

Open Access Case Report

Knight in Splicing Armor: Alternative Splicing as a Neuroprotective Mechanism

Received: 13 January 2020;  Published: 20 March 2020;  doi: 10.21926/obm.genet.2001106

Abstract

By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 cases of alternative splicing conferring increased neuroprotection through diverse mechanisms. These examples highlight the enormous power of alternative splicing in maintaining viability of neurons. From pre-mRNA secondary structure al [...]

2074 12573

Open Access Editorial

Epigenetics of Obesity and Diabetes: Emerging Roles and Mechanisms of Non-coding RNAs

Received: 16 March 2020;  Published: 17 March 2020;  doi: 10.21926/obm.genet.2001105

1991 9799

Open Access Editorial

Plant Genetics and Gene Study

Received: 03 March 2020;  Published: 04 March 2020;  doi: 10.21926/obm.genet.2001104

2043 10800

Open Access Communication

Effective Delivery of Cancer Vaccines with Oxidatively Photo-Inactivated Transgenic Leishmania for Tumor Immunotherapy in Mouse Models

Received: 29 December 2019;  Published: 24 February 2020;  doi: 10.21926/obm.genet.2001103

Abstract

The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic and chemical engineering in vitro for accumulation of photosensitizers, rendering them sensitive to dim light for inactivation. Leishmania so inactivated are non-viable, but immunologically competent to deliver vaccines [...]

2126 10704

Open Access Editorial

Another Productive Year

Received: 13 January 2020;  Published: 14 January 2020;  doi: 10.21926/obm.genet.2001102

Abstract

At the beginning of a new year it is always good to look both backwards and forwards and to highlight a few items that are relevant with respect to the long-term development of our journal. As everybody knows, the principle of open access publishing is that the authors pay fees (the article‐processing charges or APCs) to publish in the journal rather than that the readers pay subscription costs for the journal. Three years ago, OBM Genetics started as an open access journal publishing its first papers totally free [...]

1301 9337

Open Access Review

The Role of Genetic Counseling in Gynecological Oncology

Received: 15 July 2019;  Published: 12 December 2019;  doi: 10.21926/obm.genet.1904101

Abstract

Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling to evaluate the possible reproductive risk for the patient and his/her family. The geneticists here play a role in the diagnosis and prevention of some of the diseases occurring most frequently, such as cancer and cardiovascular diseases. Methods: State-of-the-art through literature review. Results: Genetic counseling [...]

2156 17176

Open Access Hypothesis

Combination of the Hansemann-Boveri, Warburg, and Knudson Theories of Cancer, Based on Failure of Missegregation Damage Mitigation

Received: 17 July 2019;  Published: 03 December 2019;  doi: 10.21926/obm.genet.1904100

Abstract

Hansemann-Boveri’s aneuploidy theory, the Warburg effect, and the Knudson hypothesis can be viewed as different aspects of a single theory of cancer. In this, the extremely common chromosome missegregation may be the underlying cause. Chromosome missegregation is mitigated via several mechanisms. Cancer can occur only when all of these mechanisms have been inactivated in a single cell line, typically by mutation. There are at least five different repair mechanisms, implying a hit-factor of at least five. These miti [...]

2252 12586

Open Access Review

Nutrition, Cancer Genetics and Epigenetics

Received: 01 October 2019;  Published: 28 November 2019;  doi: 10.21926/obm.genet.1904099

Abstract

Epidemiological data and meta-analysis have confirmed that there exists a strong association between nutrition and disease risk. In the context of cancer, it has been demonstrated that unhealthy diets increase the risk of disease. On the other hand, major dietary interventions and lifestyle changes have been demonstrated to provide therapeutic efficacy in cancer patients. Genetic mechanisms have been reported to be associated with cancer development induced by environmental and nutritional factors. Genetics plays a [...]

2538 14304

Open Access Original Research

Diversity in the Bacterial Genus Dickeya Grouping Plant Pathogens and Waterways Isolates

Received: 25 July 2019;  Published: 26 November 2019;  doi: 10.21926/obm.genet.1904098

Abstract

Background: Genus Dickeya comprises aggressive soft rot plant pathogens with wide geographic distribution and host ranges. Ten Dickeya species were characterized. Seven of them (Dickeya chrysanthemi, D. dadantii, D. dianthicola, D. fangzhongdai, D. solani, D. paradisiaca, and D. zeae) group causative agents of maceration-associated diseases that impact a wide variety of crops or ornamentals as well as isolates from fresh water. The other three species (D. aquatica, D. lacustris, D. undicola) were recently isolated [...]

2762 17574

Open Access Review

Optimizing Phage Translation Initiation

Received: 09 June 2019;  Published: 17 October 2019;  doi: 10.21926/obm.genet.1904097

Abstract

Phage as an anti-bacterial agent must be efficient in killing bacteria, and consequently needs to replicate efficiently. Protein production is a limiting step in replication in almost all forms of life, including phages. Efficient protein production depends on the efficiency of translation initiation, elongation and termination, with translation initiation often being rate limiting. Initiation signals such as Shine-Dalgarno (SD) sequences and start codon are decoded by anti-SD sequences and initiation tRNA, respect [...]

2098 15851

Open Access Review

Insulin-Like Growth Factor 2 in Physiology, Cancer, and Cancer Treatment

Received: 14 May 2019;  Published: 14 October 2019;  doi: 10.21926/obm.genet.1904096

Abstract

Insulin-like growth factor 2 (IGF2) is a strong mitogenic peptide with an imprinted gene that is primarily involved in fetal development. It is highly expressed in the fetus where it is involved in fetal growth and tissue differentiation. However, postnatally, the expression of IGF2 decreases despite higher expression levels in the blood as compared with that of IGF1. In adults, the physiological function of IGF2 is poorly understood; however, the possibility of a metabolic function exists. Although the expression [...]

2585 17375

Open Access Short Report

Thalassemia Intermedia Caused by a Combination of a Globin Gene Triplication with Heterozygosity for β0 Thalassemia: A Case Report

Received: 19 May 2019;  Published: 17 September 2019;  doi: 10.21926/obm.genet.1903095

Abstract

Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt normal hemoglobin production. Thalassemia intermedia (TI) is referred to as a group of disorders with a less severe form of the disease compared to thalassemia major. We present a case of a 60-year-old woman who was referred to a hematologist for chronic anemia and splenomegaly.

1987 11244

Open Access Editorial

Introduction to Genetic Screening

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094

Abstract

We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.

2070 9419

Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093

Abstract

Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of [...]

2526 14222

Open Access Communication

Upregulation of COX-2 in MCF7 Breast Cancer Cells When Exposed to Shear Stress

Received: 17 June 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903092

Abstract

Background: Invasive breast cancer affects 1 in 8 women in the United States and causes one of the highest cancer mortality rates for women. Cyclooxygenase-2 (COX-2), a central enzyme in prostaglandin biosynthesis, is implicated in breast cancer initiation, progression, invasion, and metastasis, and has been linked to the mechanotransduction of breast cancers. However, it is not currently known if shear stress mediated mechanotransduction is affected by COX-2. Therefore, in this report, we hypothesized that COX-2 m [...]

2328 19661

Open Access Original Research

Deletion of Subtelomeric Regions in the Linear Chromosome of Variants Isolated from Streptomyces avermitilis NBRC 14893T

Received: 19 April 2019;  Published: 23 August 2019;  doi: 10.21926/obm.genet.1903091

Abstract

Background: Streptomyces avermitilis is an actinomycete that produces avermectins. The complete genome sequence of S. avermitilis K139 was determined in 2003. In our previous study, we revealed that S. avermitilis NBRC 14893T harbors two extra secondary metabolite-biosynthetic gene clusters (smBGCs), com and ptx, which are not present in strain K139. Methods: Whole-genome sequencing for S. avermitilis NBRC 14893T and ATCC 31267T was carried out by the SMRT DNA sequencing technology to determine the genomic loci enc [...]

3616 10517

Open Access Research Article

BSA-Embedded Carbonate Apatite Enhances Chemotherapeutic Effect of Paclitaxel in vitro and in vivo

Received: 29 March 2019;  Published: 15 August 2019;  doi: 10.21926/obm.genet.1903090

Abstract

Introduction of biocompatible ingredients into nano-material formulations has been studied as a strategy for the enhancement of the pharmacokinetics as well as pharmacodynamics of the final product. With the aim of enhancing drug loading and the ultimate efficacy, incorporation of Bovine Serum Albumin (BSA) into carbonate apatite (CA) nanoparticles structure was employed in the present study. As a result of BSA embedding in the CA formulation, approximately three-times higher loading efficiency was achieved for pac [...]

1980 9590

Open Access Review

Diagnosis and Treatment of Mitochondrial Abnormalities in Reproductive Medicine

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089

Abstract

Mitochondrial diseases are among the most prevalent inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85%) result from mutations in nuclear genes involved in oxidative phosphorylation, while some (15%) are caused by mutations in mitochondrial DNA (MtDNA). The familial mtDNA mutations are exclusively inherited from the mother. There are four main methods available to prevent the transmission of mtDNA mutations: preimplantation genetic diagnosis (PGD) or prenatal diagnosis (PND) [...]

1916 11206

Open Access Review

Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088

Abstract

With the advent of next-generation sequencing (NGS), genomic profiling of tumors has been gradually introduced into the clinical setting and has become a standard in cancer care. NGS allows convenient, rapid, and inexpensive sequencing and the commercially available NGS panels enable the detection of single or global genomic alterations of germline and somatic origin. Today, genomic mutation profiling using NGS is indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. [...]

2087 13524

Open Access Research Article

Family History, Genetic, and Other Cause-Related Beliefs among Breast Cancer Survivors

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087

Abstract

Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, genetics, lifestyl [...]

1982 10193

Open Access Original Research

The Evolution of DNA Typing in Agri-Food Chain

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086

Abstract

Background: DNA typing has revolutionized not only diagnostics and forensics but also how we can analyze food. A number of techniques have been successfully applied for DNA analysis of plant-derived food. However, unlike forensics, a universally employed method has not yet emerged. Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, a Systematic Review was compiled focusing on the [...]

1901 10720

Open Access Case Report

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085

Abstract

Background: A report of two new Moroccan cases with polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14. Methods: Conventional karyotype and MULTI-FISH. Results: +del(14)(q21.1) in the first case and +del(14)(q21.2) in the second. Conclusions: Constitutional partial trisomy 14 has an expanded clinical spectrum as one case from the literature was associated with gonadal tumor development. Similar cases, including the ones reported here, need to be carefully fo [...]

2410 11914

Open Access Review

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Received: 03 June 2019;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903084

Abstract

Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches. HLA-typing can be performed with or without PGT-M for the exclusion of a single-gene disorder. T [...]

2302 21871

Open Access Original Research

Genes Coding for GPI Biosynthesis in Pneumocystis Experienced Relaxed Selection: A Follow-up Study

Received: 05 May 2019;  Published: 11 July 2019;  doi: 10.21926/obm.genet.1903083

Abstract

Background: Phylogenetic analysis shows that Pneumocystis have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the existence of a Red-Queen dynamic between Pneumocystis and its host. Evidence of this dynamic is provided by the molecular diversity and the elevated rate of non-synonymous versus synonymous (dN/dS) codon substitutions among Pneumo [...]

2185 11803

Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

Received: 27 July 2018;  Published: 26 June 2019;  doi: 10.21926/obm.genet.1902082

Abstract

Background: It is well known that radiosensitivity varies substantially from individual to individual. This may influence the tumor response and also cause side effects in normal tissues following the radiotherapy treatment for cancers. Therefore, we aimed to analyze the sensitivity of a lung cancer cohort to see whether patients display similar radiosensitivity distribution as compared to healthy individuals. Methods: Blood samples of healthy individuals (n = 244) and a small group of lung cancer patients (n= 38) [...]

2262 11767

Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Received: 14 August 2018;  Published: 20 June 2019;  doi: 10.21926/obm.genet.1902081

Abstract

Background: The aggressive T-cell acute lymphoblastic leukemia (T-ALL) is one of the frequently occurring malignancies of the thymocytes. T-ALL is observed in 15% and 25% of all new diagnosed ALL cases in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males than in females. In nearly half of T-ALL cases, structural and/or numerical chromosomal abnormalities are detected, which have an important prognostic significance. A well-known genetic subtype of B-ALL, high hyperdiploidy (He [...]

2226 11122

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

Received: 17 December 2018;  Published: 22 May 2019;  doi: 10.21926/obm.genet.1902080

Abstract

Pneumocystis pneumonia (PCP) is the most frequent AIDS-defining disease among HIV-infected individuals in developed countries, and also affects immunocompromised non-HIV patients. Experimental studies on rodent models carried out in the early eighties have shown that Pneumocystis spp. can be transmitted via the airborne route. Unfortunately, this mode of acquisition and transmission has long been overlooked by physicians because PCP in immunosuppressed patients was considered to result from reactivation of a latent [...]

2175 11353

Open Access Review

The Changed Transcriptome of Muscular Dystrophy and Inflammatory Myopathy: Contributions of Non-Coding RNAs to Muscle Damage and Recovery

Received: 28 February 2019;  Published: 16 May 2019;  doi: 10.21926/obm.genet.1902079

Abstract

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. Non-coding RNAs actively participate in this complex process of demolition and rebuilding. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in hereditary muscular dystrophies and idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding RNAs appear to be key factors [...]

2280 10154

Open Access Review

Pneumocystis Species Co-evolution: State-of-the-Art Review

Received: 22 February 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902078

Abstract

Pneumocystis spp. are a group of fungi that are known for causing opportunistic infections in immunocompromised individuals. It was only at the end of the 20th century that the scientific community challenged the notion of a unique species in the genus Pneumocystis (i.e., Pneumocystis carinii) that drastically changed the understanding of the natural history of pneumocystosis. It is now accepted that the Pneumocystis genus comprises a group of heterogenous fungi having multiple stenoxenic biological entities. These [...]

2239 11409

Open Access Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Received: 11 March 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902077

Abstract

Background: Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy. Case: We describe a case of multiple non-specific fetal findings with the eventual diagnosis of fetal Kabuki Syndrome by exome sequencing. Conclusions: This case stresses [...]

2176 14047

Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

Received: 06 February 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902076

Abstract

The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at the chromosomal level, which are involved in the neuronal diversity in health and disease. Brain-specific chromosomal mosaicism (aneuploidy) and chromosome instability play a role in the normal and pathological neurodevelopment, neurodegeneration and aging of the central nervous system. Regardless of achievements in somatic cell (single-cell) genomics, there is still no consensus on the amounts of chromosomally abnormal [...]

1921 9496

Open Access Editorial

Epigenetics is Here to Stay

Received: 24 April 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902075

Abstract

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1597 8189

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Received: 30 December 2018;  Published: 29 April 2019;  doi: 10.21926/obm.genet.1902074

Abstract

In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rare, disorders of the g [...]

2180 14407

Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Received: 24 December 2018;  Published: 17 April 2019;  doi: 10.21926/obm.genet.1902073

Abstract

Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chromosomal aberration initially missed on ro [...]

1929 13244

Open Access Review

RNA Editors and DNA Mutators: Cancer Heterogeneity Through Sequence Diversification

Received: 03 December 2018;  Published: 08 April 2019;  doi: 10.21926/obm.genet.1902072

Abstract

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation to metastasis, the tumor mutational burden (TMB) plays a prominent role in the disease progression for the vast majority of cancer types. Not only are heterogeneous mutational loads or genetic heterogeneity causal to transcriptomic and proteomic discrepancies and to phenotypic diversity between individuals, they are also between tumor cells. But in addition to mutations, a [...]

1861 11797

Open Access Review

Molecular Mechanisms of Canine Cancers

Received: 30 January 2019;  Published: 01 April 2019;  doi: 10.21926/obm.genet.1902071

Abstract

Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of them share marked similarities with their human counterparts. Although canines are afflicted with many of the same types of cancers as humans, the genetic basis behind these cancers are not as well understood. Thus, the aim of this study is to elucidate some of the molecu [...]

2416 17557

Open Access Review

The Role of Mitochondria in Oocyte and Early Embryo Health

Received: 01 January 2019;  Published: 29 March 2019;  doi: 10.21926/obm.genet.1901070

Abstract

The mitochondria of the oocyte are a prominent source of energy metabolism as well as mitochondrial DNA that will later populate the cells of the offspring. Recent discoveries provided new insight into the physiology of the mitochondria and its unique genetics. The concept of heteroplasmy defined as the presence of more than one type of mitochondrial genome, is gaining increasing recognition as an important contributor to several complex morbidities, age-related reproductive dysfunction and aging. Understanding the [...]

3000 30111

Open Access Opinion

Clonal Heterogeneity in Non-Small Cell Lung Cancer and the Possible Role in Predicting Response to Treatment with Immune Checkpoint Inhibitors

Received: 15 November 2018;  Published: 22 March 2019;  doi: 10.21926/obm.genet.1901069

Abstract

Immune oncology treatment with immune checkpoint inhibitors (ICIs) is revolutionizing therapeutic approach for advanced non-small cell lung cancer (NSCLC) patients, in terms of longer survival and improved quality of life. To date, the widely used and approved biomarker is programmed death ligand 1 (PD-L1) expression on tumour cells, but it is considered not accurate and it is more likely that many factors, related to both cancer and host, may better predict response to ICI. Among those factors, great attention is [...]

1983 9467

Open Access Review

FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease

Received: 08 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901068

Abstract

Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of children with neuropsychiatric diseases and congenital malformations. To understand mechanisms of non-cancerous diseases potentially mediated by chromosome instability, which may represent an important target for molecu [...]

2021 11044

Open Access Technical Note

Interphase Quantitative Fluorescence in Situ Hybridization (IQ-FISH)

Received: 02 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901067

Abstract

Fluorescence in situ hybridization (FISH) seems to be the most applicable and versatile molecular cytogenetic platform for visual interphase chromosome analysis offering a variety of opportunities for studying chromosomal structure and behaviour at the highest microscopic resolution and at all stages of the cell cycle. Quantitative assessment of FISH results has been repeatedly shown to increase the efficiency of FISH-based approaches. Here, we explore the potential of interphase quantitative FISH (IQ-FISH), which [...]

2043 11684

Open Access Research Article

New DNA Extraction Method for the Detection of Pneumocystis in Lung Tissue Samples of Colonized Individuals

Received: 30 January 2019;  Published: 18 March 2019;  doi: 10.21926/obm.genet.1901066

Abstract

Background: Pneumocystis jirovecii colonization in patients is associated with a low organism burden, which supports the need to use highly sensitive molecular techniques, such as nested-PCR to determine the presence of the organism. However, few studies have considered the effect of nucleic acid extraction methods on the detection of P. jirovecii. Here, we evaluate how pre-treatment affects microbial detection. Methods: Lung tissue samples from fifteen autopsied infants were processed using two different DNA extra [...]

1946 11068

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