by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , Sheela Nampoothiri  , Marjolein H. Willemsen  , Eelco Dulfer  , Madhavan V. Thampi  , Nicole de Leeuw  and Conny M.A. van Ravenswaaij-Arts

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed in some families. Our aim is to provide an overview of the underlying causes of recurrence in families with PMS and to summarize the available detection methods used to assess increased recurrence risk. Methods: We report clinical and (cyto)genetic data for five famili [...]

by Ana Luísa Tomás  and Olga Matos

Received: 21 August 2018;  Published: 13 November 2018;  doi: 10.21926/obm.genet.1804049

Pneumocystis jirovecii pneumonia (PcP) remains a major cause of respiratory illness among immunocompromised patients. PcP is difficult to diagnose, in particular in non-HIV-infected patients due to the lack of specific clinical data associated. Since P. jirovecii could not be cultivated for many years, microscopic visualization of cystic or trophic forms in respiratory specimens based on cytochemical or immunofluorescence staining are the standard procedures to identify this fungus. Polymerase chain reaction (PC [...]

by Maddaloni Valeria  , D'Arco Daniela  , Morano Francesca  , Pepe Nicola  and Atripaldi Luigi

Received: 30 May 2018;  Published: 12 November 2018;  doi: 10.21926/obm.genet.1804048

Epigenetics and Infectious Disease, State of the Art and Perspectives in New Generation Therapies

by Ken-ichi Takayama

Received: 26 May 2018;  Published: 02 November 2018;  doi: 10.21926/obm.genet.1804047

Prostate cancer is the most commonly diagnosed cancer in men all over the world. Androgen receptor (AR) functions as a nuclear receptor to facilitate ligand-dependent transcriptional activation in the nucleus. Advanced prostate cancer is treated with androgen deprivation therapy (ADT) because androgen and AR signaling drive the prostate tumor growth and anti-apoptotic ability. Resistance to ADT in most tumors develops quickly, but AR continues to be active in relapsed tumors called castration-resistant prostate can [...]

by Kazuki Mochizuki  , Ayumi Osaki  , Yuko Inamochi  and Toshinao Goda

Received: 18 December 2017;  Published: 30 October 2018;  doi: 10.21926/obm.genet.1804046

Background: Chromodomain-helicase-DNA-binding protein (CHD) 1 is Histone H3 lysine 4 (K4) methylation is thought to be important for the transcriptional activation of genes during differentiation. Methods: mRNA and histone modification around SI gene in a small intestinal cell line Caco-2 during the differentiation were determined by qRT-PCR and Chromatin immunoprecipitation assay, respectively. Results: Mono-, di- and tri-methylation of histone H3 K4 on the sucrase-isomaltase (SI) gene was associated with the ind [...]

by Robert F. Miller  , Laurence Huang  and Peter D. Walzer

Received: 14 September 2018;  Published: 25 October 2018;  doi: 10.21926/obm.genet.1804045

Background: Over the past decade, there has been rising interest in the interaction of Pneumocystis with the environment. This interest has arisen in part from the demonstration that environmental factors have important effects on the viability and transmission of microbes, including Pneumocystis. Environmental factors include climatological factors such as temperature, humidity, and precipitation, and air pollution factors including carbon monoxide, nitrogen dioxide, sulfur dioxide, and particulate matter. Method [...]

by Alberto Arias-Pérez  , Daniel Ramírez-Torres  , María E. Rodríguez  , Silvia Portela-Bens  , Emilio García-Suarez  , Manuel A. Merlo  , Aglaya García-Angulo  , Ismael Cross  , Thomas Liehr  and Laureana Rebordinos

Received: 31 July 2018;  Published: 24 October 2018;  doi: 10.21926/obm.genet.1804044

MicroRNAs (miRNAs) are small non-coding RNAs that play a very important role in gene expression through regulation of mRNA cleavage and translation. The Senegalese sole, Solea senegalensis (Kaup 1858), is a flatfish species that shows great potential for marine aquaculture. Nevertheless, the existence of sexual dysfunction of males reared in captivity, high larval mortality and diseases have hampered its production. The integration of sequence information with data on chromosomal physical location is useful for un [...]

by Albena Staynova  , Ljubomira Hadjiiska  , Valeria Hadjidekova  and Rositsa Hristova

Received: 14 August 2018;  Published: 22 October 2018;  doi: 10.21926/obm.genet.1804043

Background: The purpose of the present study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome and centromere-negative micronuclei containing acentric fragment pointing to clastogenic action of ionizing radiation. Methods: The effect of low dose occupational exposure was estimated in 32 nuclear power plant workers [...]

by Adayabalam S. Balajee

Received: 26 August 2018;  Published: 19 October 2018;  doi: 10.21926/obm.genet.1804042

The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific DNA sequences. Since then, the technique has undergone various modifications for detecting single genes, chromosomes and whole genome on various targets such as interphase nucleus, prematurely condensed chromosomes, metap [...]

by Chenggong Han  , Hancong Tang  , Shuyuan Lou  , Yuan Gao  , Min Ho Cho  and Shili Lin

Received: 23 May 2018;  Published: 14 October 2018;  doi: 10.21926/obm.genet.1804041

Whole genome profiling of differential DNA methylation between diseased and normal samples has significant implications in research to understand the role of epigenetic regulations of cells. In recent years, the development of bisulfite sequencing (BS-seq) based molecular technology has enabled the measurement of DNA methylation at a nucleotide resolution throughout the genome. Given the availability of this new type of DNA methylation data with certain features challenging traditional analytical methods such as th [...]