by Marcel Mannens

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

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by Rita Payan-Carreira

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

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 [...]

by Racha El-Hajj Ghaoui  , Dorothy Hung  and Bhavna Padhye

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

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 [...]

by Rafail Nikolaos Tasakis  , F. Nina Papavasiliou  and Rita Shaknovich

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

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

by Jennie Cao  , Valentina L Kouznetsova  and Igor F Tsigelny

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

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 these 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 molec [...]

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 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 is the [...]

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 [...]