by Kyunga Kim  , Shlomit Kenigsberg  , Andrea Jurisicova  and Yaakov Bentov

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

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 [...]

by Annapaola Mariniello  and Silvia Novello

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

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 [...]

by Svetlana G. Vorsanova  , Yuri B. Yurov  , Ilia V Soloviev  , Alexei D Kolotii  , Irina A Demidova  , Viktor S Kravets  , Oxana S Kurinnaia  , Maria A Zelenova  and Ivan Y. Iourov

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

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 [...]

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

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

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 [...]

by Susana Ruiz-Ruiz  , Carolina A Ponce  , Nicole Pesantes  , Rebeca Bustamante  , Gianna Gatti  , Viviana San Martin  , Mireya Gutierrez  , Mariana Izquierdo  , Sergio L Vargas  , Fabien Magne  and Vicente Pérez-Brocal

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

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 [...]

by Khalid Saidov  , Anna Tiunova  , Oksana Subach  , Fedor Subach  and Konstantin Anokhin

Received: 12 October 2018;  Published: 04 March 2019;  doi: 10.21926/obm.genet.1901065

Background: The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. This technique exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activated in the brain of the same animal in response to neural or behavioral events separated by 25–30 min. The differential labeling is based on the visualization of nuclear RNA and cytoplasmic [...]

by Jin-Ho Lee  , Florence Laure Djiki Tchetgna  , Matthias Krufczik  , Eberhard Schmitt  , Christoph Cremer  , Felix Bestvater  and Michael Hausmann

Received: 14 September 2018;  Published: 19 February 2019;  doi: 10.21926/obm.genet.1901064

Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemical and/or thermal denaturation to improve target accessibility and uses huge amounts of DNA that needs to be bonded to the target site. COMBinatorial Oligo-nucleotide FISH (COMBO-FISH) offers possibilities to circumvent these shortcomings. Methods: [...]

by Elena Sala  , Donatella Conconi  , Francesca Crosti  , Nicoletta Villa  , Serena Redaelli  and Gaia Roversi

Received: 01 October 2018;  Published: 28 January 2019;  doi: 10.21926/obm.genet.1901063

Since its introduction around the end of the 1970s, interphase fluorescence in situ hybridization (FISH) supports both classical and recent techniques for determining fetal karyotypes during prenatal diagnosis, quickly providing relevant information for the management of pregnancy. Interphase FISH plays an important role in the study of pregnancies with malformations, in mosaicism conditions, in confirming or excluding aneuploidy detected by non-invasive prenatal testing, and in the diagnosis of contiguous gene syn [...]

by Patrick Weber  , Cathia Rausch  , Annina Scholl  and M. Cristina Cardoso

Received: 22 July 2018;  Published: 25 January 2019;  doi: 10.21926/obm.genet.1901062

Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. However, their investigation at a genome-wide scale is challenging due to their repetitive nature. Here, we describe a method to study the DNA replication kinetics of different repeat elements in single cells throughout the S-phase of the cell cycle. Methods: Mouse major satellite, minor satellite and telomere repeat elements as well as human LINE-1 and Alu repeats were [...]

by Paul Scriven

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]