by Maria Kontodiou  , Vassilis Paspaliaris  , Themistoklis Dagklis  , Elisavet Siomou  , Ahmed Al-Rikabi  , Andreas Pampanos  , Georgios Papaioannou  , Ioannis Papoulidis  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 this study. Results: In [...]

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 throughput analysis of la [...]

by Frenny Sheth  , Thomas Liehr  , 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 sSMCT in a karyotype 46,X,mar are even more scarce. According to the literature sSMCT are derived from one of the Y-chromosome in ~70% of the cases. Thus, to identify potentially present Y-chromosomal material cases is imperative, since these cases have an increased risk of gonadoblastoma deriving from the streak gonads. Methods: A 24-year-old short statured male presented [...]

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 galactozylated 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 present some of the [...]

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; but its most prominent fea [...]

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 replacement of ATP7B in hepatocytes by liver transplantation, however, lifelong monitoring and immunosuppressive medications are still needed. The possibility of introducing functional ATP7B gene through gene therapy provides an exciting potential option for [...]

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 belong to our diet and have conflictual documented epigenetic activities which need clarification. Methods: Seventy-one different natural products plus 17 controls were assembled for screening. First localized DNA methylation (DNAm) was studied on a stretch of the Retinoic Acid Receptor geneRAR followed then by a wider measure of all genomic 5 methylat [...]

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 continuous regions within the genome exhibiting allelic homozygosity (identical alleles are inherited from each parent). Genome-wide analyses consistently evidence that megabase-scale ROH are ubiquitous in humans reflecting individual demographic history. The number and length of ROH increasingly correlate with degree of consanguinity and are likely to be associated with genetic diseases both in inbred and outbred individuals. It is noteworthy that there are two other ph [...]

by Karine Sénécal  , Brigid Unim  and Bartha Maria Knoppers

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

Although newborn screening programs are among the ten most important public health achievements, a number of ethical, legal and social issues have emerged. Notably, the number of diseases screened; consent and notification processes; sample, retention; and potentially secondary use of residual blood spots are now contested. In addition, newborn screening programs are also facing one of the biggest challenges, the arrival of next-generation sequencing technologies, such as whole genome sequencing. The key ethical, l [...]

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 Symmetric DNA methylation profiles of autosomal genes is associated with equal expression from 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 a unique mechanism for modulating allelic dosage. - Methods We comb [...]