by Seria Tsan  , Stefanie Kankel  , Niklas Padutsch  , Luisa Person  , Monika Ziegler  , Ahmed Al-Rikabi  , Anja Weise  , Kristin Mrasek  and Thomas Liehr

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

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. [...]

by Zheng Zuo

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

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 [...]

by Giuseppe Cocco  and Philipp Amiet

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

“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 [...]

by Ciro Comparetto  and Franco Borruto

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

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 [...]

by Jessica Lin  , Valentina L Kouznetsova  and Igor F Tsigelny

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

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 [...]

by Diane B. Paul

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

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 [...]

by Vidhula R Ahire  , Amit Kumar  , Sushma Bhosle  and Kaushala Prasad Mishra

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

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 assay. Ot [...]

by Loren Pickart  and Anna Margolina

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

Breast cancer is the most commonly diagnosed cancer in women, while prostate cancer is the most common cancer affecting men. Despite significant advances in diagnostics and treatment, these cancers have a high risk of metastases and greatly reduce quality of life. Recently, it has been established that multiple epigenetic alterations in gene expression may play a role in cancer progression. Unlike mutations, which involve changes in DNA sequence, epigenetic modifications are not permanent and can be reversed. This [...]

by Macyn Leung  , Alexander Pipchuk  and Xiaolong Yang

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

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 [...]

by Masahiro Sato  , Issei Saito  , Eri Akasaka  and Emi Inada

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

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 [...]