by Hans Rhode  , Thomas Liehr  , Nadezda Kosyakova  , Martina Rinčić  and Shaymaa S. Hussein Azawi

Received: 30 July 2018;  Published: 19 September 2018;  doi: 10.21926/obm.genet.1803037

(1) Background: Colorectal cancer (CRC) is the third most common cancer in human and the fourth leading cause of adult man’s death. Murine tumor cell lines have been established as a model system for CRC, but their cytogenetic properties have so far been only poorly understood. (2) Methods: The two murine colon tumor cell lines CMT-93 and CT26 (also called CT26.WT, CT-26 or CT-26 WT) were investigated in this study by molecular cytogenetic methods, i.e. by multicolor-fluorescence in situ hybridi [...]

by Mitsuko Hirosawa  , Koji Hayakawa  , Kunio Shiota  and Satoshi Tanaka

Received: 05 July 2018;  Published: 17 September 2018;  doi: 10.21926/obm.genet.1803036

Histone modifications play an important role in the control of DNA-based processes by altering the structure and function of chromatin. O-linked N-acetylglucosamine (O-GlcNAc) modification is a form of post-translational modification of proteins that affects the serine (Ser)/threonine (Thr) residues. This process is controlled by a single pair of enzymes, i.e. O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recent evid [...]

by Maria Kontodiou  , Vassilis Paspaliaris  , Themistoklis Dagklis  , Elisavet Siomou  , Ahmed Hamid Al-Rikabi  , Kalliopi Tsita  , Theano Stavroulaki  , Andreas Pampanos  , Apostolos Zavlanos  , Georgios Papaioannou  , Ioannis Papoulidis  , Loretta Thomaidis  and Emmanouil Manolakos

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035

Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of molecular karyotyping has resulted in improving the characterization of sSMC. Methods: Molecular karyotyping was used for the identification of a sSMC in thi [...]

by Ute Moog  and Domenico Coviello

Received: 14 August 2018;  Published: 13 September 2018;  doi: 10.21926/obm.genet.1803034

he publication of the double helix DNA structure in 1953 [1] was the kick-off of numerous efforts to understand and unravel the complexity of the human genome. It took 50 years until the human genome project, based on Sanger sequencing, was completed in 2003 [2]. This was followed by what may be considered a revolution in the field of DNA analysis: the introduction of Next Generation Sequencing (NGS) in 2005 consisting of massively parallel sequencing of DNA fragments which allows the high throu [...]

by Frenny Sheth  , Thomas Liehr  , Kristin Mrasek  , Joris Andrieux  , Stuti Tewari  , Naznin Lubna  and Jayesh Sheth

Received: 23 March 2018;  Published: 07 September 2018;  doi: 10.21926/obm.genet.1803033

Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMC^T in a karyotype 46, X, +mar are even more scarce. According to the literature, sSMC^T are derived from one of the Y-chromosomes in ~70% of the cases. Thus, to identify the presence of Y-chromosomal material is imperative, since these cases have an increased risk of gonadoblastoma deriving from the streak [...]

by Stamatia Stai

Received: 27 May 2018;  Published: 06 September 2018;  doi: 10.21926/obm.genet.1803032

Immunoglobin A Nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Its development is characterized by the deposition of immune complexes that consist of abnormally galactosylated IgA1 molecules and IgG or IgA autoantibodies in the mesangium and the subsequent induction of renal injury. Recent research has shed light to many aspects of the pathogenesis of the disease, including the contribution of epigenetic modifications in its onset and progression. This review aims to [...]

by Thomas Eggermann  , Deborah J.G. Mackay  and Zeynep Tümer

Received: 28 June 2018;  Published: 30 August 2018;  doi: 10.21926/obm.genet.1803031

Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD. Though its general frequency is unknown, it becomes clinically relevant when it produces homozygosity for recessive pathogenic variations or is associated with chromosomal imbalances. UPDs are [...]

by Michelle A. Camarata  , Uyen To  and Michael L. Schilsky

Received: 18 July 2018;  Published: 22 August 2018;  doi: 10.21926/obm.genet.1803030

Wilson Disease is a monogenetic disorder of copper metabolism affecting the ATP7B gene. Treatment is lifelong and focuses on removal of copper to arrest disease progression and improve the clinical manifestations of copper toxicity. Currently the only cure is liver transplantation, however, lifelong monitoring and immunosuppressive medications are still needed afterwards. The possibility of introducing functional ATP7B gene through gene therapy provides an e [...]

by Melita Vidakovic  , Jessica Marinello  , Maija Lahtela-Kakkonen  , Daumantas Matulis  , Vaida Linkuvienė  , Benoît Y. Michel  , Ruta Navakauskiene  , Michael S. Christodoulou  , Danielle Passarella  , Saulius Klimasauskas  , Christophe Blanquart  , Muriel Cuendet  , Judit Ovadi  , Stéphane Poulain  , Fabien Fontaine-Vive  , Alain Burger  and Nadine Martinet

Received: 30 May 2018;  Published: 16 August 2018;  doi: 10.21926/obm.genet.1803029

Background: With their varied pharmacophores, natural products are interesting tools to open the drug discovery pipeline. Several plant secondary metabolites are components of the human diet and have reported epigenetic activities. In this study, we screened a small natural compound library for epigenetic activities. Methods: Seventy-one different natural products plus 17 controls collected from all collaborating laboratories were screened. Localized DNA methylation (DNAm) was studied on a stret [...]

by Ivan Y. Iourov  , Svetlana G. Vorsanova  and Yuri B. Yurov

Received: 29 May 2018;  Published: 15 August 2018;  doi: 10.21926/obm.genet.1803028

Runs of homozygosity (ROH) are uninterrupted contiguous regions within the genome exhibiting allelic homozygosity (alleles are inherited from the same parent). Genome-wide analyses consistently demonstrate that megabase-scale ROH are ubiquitous in humans, reflecting individual demographic history. The number and length of ROH correlate increasingly with the degree of consanguinity and can be associated with genetic diseases in both inbred and outbred individuals. Genomic imprinting and uniparent [...]

by Karine Sénécal  , Brigid Unim  and Bartha Maria Knoppers

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

The benefits of neonatal screening programs are undeniable: children’s lives are saved, and disease burden and morbidity alleviated. Without a doubt, « classical » neonatal screening programs are in the best interests of newborns. Indeed, those screening programs are recognized among the ten most important public health achievements. However, newborn screening programs raise ethical, legal and social challenges. For example, which criteria should govern whether or not to include a disease in the [...]

by Ana Monteagudo-Sánchez  , Marta Sánchez-Delgado  , Sonia Guara Ciurana  , Jose Medrano  , Maria Eugenia Poo-Llanillo  , Miho Ishida  , Gudrun E. Moore  , Isabel Iglesias-Platas  , Carlos Simón  and David Monk

Received: 29 May 2018;  Published: 29 July 2018;  doi: 10.21926/obm.genet.1803026

Background: Symmetrical DNA methylation profiles of autosomal genes are associated with equal expression by both alleles. Genes with an allelic imbalance or monoallelic expression are associated with discrete intervals of allele-specific methylation (ASM), as highlighted by genomic imprinting, X-chromosome inactivation and genotype-driven ASM. However, a more complex pattern has been described in which random monoallelic methylation provides cells with a unique mechanism for modulating allelic d [...]

by Inês Lopes Cardoso

Received: 17 April 2018;  Published: 27 July 2018;  doi: 10.21926/obm.genet.1803025

Some repeats of three or more nucleotides in tandem, which are present in a gene or in its vicinity, tend to increase in number and for this reason are called dynamic mutations. These triplet repeats are unstable and can expand from one generation to the next. According to the expansion size, an unaffected individual can carry a pre-mutation that will expand through generations leading to the development of triplet repeat expansion diseases. The increase in the number of repeats over time leads [...]

by Joep Geraedts

Received: 05 June 2018;  Published: 23 July 2018;  doi: 10.21926/obm.genet.1803024

Both preimplantation genetic testing (PGT) and prenatal diagnosis (PND) are powerful tools to tackle the transmission of inherited disorders carried by families from generation to generation. Here, we present an overview of the current landscape of both methods and identify the pros and cons of each of these reproductive options. In prenatal testing, non-invasive diagnostic methods have become available as an alternative for invasive diagnosis. Different genome sequencing strategies have now bee [...]

by Irina Bakloushinskaya  and Sergey Matveevsky

Received: 16 May 2018;  Published: 22 July 2018;  doi: 10.21926/obm.genet.1803023

Species of mole voles Ellobius demonstrate a broad variation in sex chromosomes and autosomes, which is unique among mammals. In four species, a Y chromosome was lost, and X0 or XX sex chromosomes in both sexes were obtained. The key testis-determining Sry (Sex-determining Region on Y) gene is absent in these species, and the regulation of its target, the Sox9 (SRY -box 9) gene, is questionable due to [...]