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Allelic exclusion

Mia J Smith, Marynette Rihanek, Clive Wasserfall, Clayton E Mathews, Mark A Atkinson, Peter A Gottlieb, John C Cambier
Although B cells reactive with islet autoantigens are silenced by tolerance mechanisms in healthy individuals, they can become activated and contribute to development of type 1 diabetes. We previously demonstrated that high-affinity insulin-binding B cells (IBCs) occur exclusively in the anergic (BND) compartment in peripheral blood of healthy subjects. Consistent with their activation early in disease development, high-affinity IBCs are absent from the BND compartment of some first-degree relatives (FDRs) as well as all autoantibody positive pre-diabetic and new-onset type 1 diabetes patients, a time when they are found in pancreatic islets...
January 17, 2018: Diabetes
Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
BACKGROUND: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families. METHODS: A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital...
January 20, 2018: Chinese Medical Journal
Binbin Song, Shigeki Aoki, Cong Liu, Takeshi Susukida, Kousei Ito
Genome-wide association studies indicate that several idiosyncratic adverse drug reactions are highly associated with specific human leukocyte antigen (HLA) alleles. For instance, abacavir, a human immunodeficiency virus reverse transcriptase inhibitor, induces multi-organ toxicity exclusively in patients carrying the HLA-B*57:01 allele. However, the underlying mechanism is unclear due to a lack of appropriate animal models. Previously, we developed HLA-B*57:01 transgenic mice and found that topical application of abacavir to the ears induced proliferation of CD8+ lymphocytes in local lymph nodes...
January 8, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
Guanglin He, Zheng Wang, Yongdong Su, Xing Zou, Mengge Wang, Jing Liu, Yiping Hou
Understanding the origin and genetic background of Chinese high-altitude Tibetans play a pivotal role in medical genetics, archeology, anthropology, and forensics. In this study, to investigate the forensic characterization and genetic diversity of Chinese Tibetan, allele frequencies and corresponding forensic statistical parameters of 15 autosomal STRs included in the AmpFℓSTR® Sinofiler™ kit were obtained from 1220 Tibetan individuals residing in Lhasa country, Tibet Autonomous Region. We identified 191 alleles with corresponding allele frequencies varied from 0...
January 8, 2018: International Journal of Legal Medicine
Elizabeth Gensterblum-Miller, Weisheng Wu, Amr H Sawalha
The MHC region encodes HLA genes and is the most complex region in the human genome. The extensively polymorphic nature of the HLA hinders accurate localization and functional assessment of disease risk loci within this region. Using targeted capture sequencing and constructing individualized genomes for transcriptome alignment, we identified 908 novel transcripts within the human MHC region. These include 593 novel isoforms of known genes, 137 antisense strand RNAs, 119 novel long intergenic noncoding RNAs, and 5 transcripts of 3 novel putative protein-coding human endogenous retrovirus genes...
January 8, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
Michael Kalnoky, Germana Bancone, Maria Kahn, Cindy S Chu, Nongnud Chowwiwat, Pornpimon Wilaisrisak, Sampa Pal, Nicole LaRue, Brandon Leader, Francois Nosten, Gonzalo J Domingo
BACKGROUND: Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with one allele encoding a G6PD deficient protein and the other a normal protein produce two RBC populations each expressing exclusively one allele. The G6PD mosaic is not captured with routine G6PD tests. METHODS: An open-source software tool for G6PD cytofluorometric data interpretation is described...
December 14, 2017: European Journal of Haematology
Christian Paludan-Müller, Gustav Ahlberg, Jonas Ghouse, Jesper H Svendsen, Stig Haunsø, Morten S Olesen
BACKGROUND: De novo variants in the exome occur at a rate of 1 per individual per generation, and because of the low reproductive fitness for de novo variants causing severe disease, the likelihood of finding these as standing variations in the general population is low. Therefore, this study sought to evaluate the pathogenicity of de novo variants previously associated with cardiac disease based on a large population-representative exome database. METHODS AND RESULTS: We performed a literature search for previous publications on de novo variants associated with severe arrhythmias and structural heart diseases and investigated whether these variants were present in the Exome Aggregation Consortium (ExAC) database (n=60 706)...
December 2017: Circulation. Cardiovascular Genetics
Y L Wang, X Sheng, M Li, Y L Chen, Y Lin, L Q Chen
OBJECTIVES: To investigate the genetic polymorphism of 23 autosomal STR loci of Huaxia™ Platinum kit in Chinese Han population, and to evaluate the forensic efficiency of Huaxia™ Platinum kit. METHODS: A total of 500 unrelated healthy individuals from Han population were genotyped with Huaxia™ Platinum kit. The frequency distribution and the parameter of population genetics of STR loci were analysed statistically. Huaxia™ Platinum kit was compared with other 7 commercial STR kits commonly seen at home and abroad in the number of STR loci, interior label, fluorescent mark, total number of alleles in Ladder and system effectiveness...
April 2017: Fa Yi Xue za Zhi
Wanyun Yang, Junjun Zheng, Boyin Jia, Haijun Wei, Guiwu Wang, Fuhe Yang
Every part of the sika deer (Cervus nippon) body is valuable traditional Chinese medicine. And sika deer is the most important semi-domestic medicinal animal that is widely bred in Jilin province northeast of China. But few studies had been conducted to characterize the microsatellite markers derived from sika deer. We firstly used IlluminaHiSeq™2500 sequencing technology obtained 125Mbp genomic data of sika deer. Using microsatellite identification tool (MISA), 22,479 microsatellites were identified. From these data, 100 potential primers were selected for further polymorphic validation, finally, 76 primer pairs were successfully amplified and 29 primer pairs were found to be obvious polymorphic in 8 different individuals...
December 6, 2017: Gene
Q S Zhao, Z Ren, H L Zhang, J L Dai, J Wang, F Yu, J Huang
OBJECTIVES: To investigate the allelic distribution of 19 autosomal STR loci in Guizhou Han population, and to estimate the forensic application value. METHODS: The 19 autosomal STR loci in 520 unrelated healthy individuals from Guizhou Han population were studied using Goldeneye™ 20A kit. The 310 genetic analyzer was used for capillary electrophoresis, and the GeneMapper®ID v3.1 for genotyping. RESULTS: The heterozygosis, the discrimination power, the probability of exclusion, the polymorphism information content, the cumulative discrimination power and the cumulative probability of exclusion of the 19 STR loci were 0...
August 2017: Fa Yi Xue za Zhi
M Zhou, H Q Zhang, J Wang
OBJECTIVES: To derive and experiment validate the probability of exclusion (PE) formulas in the cases of standard triplet parentage testing. METHODS: The formulas were derived voluntarily based on the PE definition: [Formula: see text]. This formula was compared with the 5 formulas (1)-(5) reported previously, and the PE values of 19 autosomal STR loci in AGCU EX20 system were calculated. Based on 1 000 samples of single-parentage cases and 1 000 unrelated individuals, the real experiment was designed and the real experiment results of PE were calculated...
August 2017: Fa Yi Xue za Zhi
Hamid Reza Seyedabadi, Sima Savar Sofla, Elham Kazemi
The aim of this study was to evaluate genetic characterization of the Caspian horse population using microsatellite markers. This study determined the efficiency of microsatellite markers for conservation plans and breeding strategies in Caspian horse population. For this purpose, 120 Caspian horse samples including 95 adults and 25 foals were genotyped by using seventeen microsatellite markers recommended by ISAG. The number of allele per locus varied from 5 (HMS01 and HTG07) to 9 (HTG10) with an average value of 7...
November 30, 2017: Cellular and Molecular Biology
Samantha L P Schilit, Cynthia C Morton
Recent advances in molecular cytogenetics highlight the importance of noncoding structural variation in human disease. Genomic rearrangements can disrupt chromatin architecture, leading to long-range alterations in gene expression. With increasing ability to assess distal gene dysregulation comes new challenges in clinical interpretation of rearrangements. While haplotyping methods to determine compound heterozygosity in a single gene with two pathogenic variants are established, such methods are insufficient for phasing larger distances between a pathogenic variant and a genomic rearrangement breakpoint...
December 1, 2017: Human Genetics
Marcia Regina Dezan, Luis Giovani O Guardalini, Elaine Pessoa, Ingrid Helena Ribeiro, Valeria Brito Oliveira, Fabio Luz, Denise Rossite Novac, António Gallucci, Silvia Bonifácio, Francisco Gomes, José E Levi, Alexandre C Pereira, Jose E Krieger, Alfredo Mendrone-Junior, Vanderson Rocha, Carla Luana Dinardo
BACKGROUND: Molecular tests designed to detect the presence of active RHD gene among D- donors have been successfully applied in people of European ancestry, but not in admixed populations with a considerable frequency of RHD*Ψ. Our goal was to evaluate the performance of a molecular screening tool for identifying active RHD alleles among Brazilian blood donors classified as D- C+ and/or E+. STUDY DESIGN AND METHODS: Pools of five DNA samples of serologically D- C+ and/or E+ donors were checked by a RHD polymerase chain reaction (PCR) assay specific for RHD Intron 4 and Exon 7...
November 28, 2017: Transfusion
Min Cai, Zongchao Liu, Wenjian Li, Ying Wang, An-Mu Xie
Numerous published case-control studies have investigated a role of PARK16 gene in susceptibility to Parkinson's disease (PD), but the results remain conflicting and under-powered. Herein, we performed this meta-analysis to evaluate the possible association between the polymorphism of the PARK16 rs8231128 (A/G) and PD.A comprehensive search of six databases was conducted to identify all case-control studies involving PARK16rs823128variants and PD risk up to August 2017. The strict inclusion and exclusion criteria were applied...
November 27, 2017: Neuroscience Letters
Zhang Yuhui, Huang Ping, Lin Jing, Zhao Jin
OBJECTIVE: This study aims to investigate the association between interleukin (IL)-10-597 (C/A) single-nucleotide polymorphisms and chronic periodontitis of Moyu Uygur population in Xinjiang Uygur Autonomous Region of China. METHODS: In accordance with the inclusion and exclusion criteria, the buccal swabs of 300 subjects were randomly selected from the epidemiological investigation of Uygur adults in Moyu county on April and May 2013. The study was conducted on a healthy control group, a mild chronic periodontitis group, and a moderate-to-severe chronic periodontitis group, with each comprising 100 samples...
October 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K D Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome...
November 28, 2017: Scientific Reports
Robyn S Lee, Torsten Seemann, Helen Heffernan, Jason C Kwong, Anders Gonçalves da Silva, Glen P Carter, Rosemary Woodhouse, Kristin H Dyet, Dieter M Bulach, Timothy P Stinear, Benjamin P Howden, Deborah A Williamson
Background: Antimicrobial-resistant Neisseria gonorrhoeae is a major threat to public health. No studies to date have examined the genomic epidemiology of gonorrhoea in the Western Pacific Region, where the incidence of gonorrhoea is particularly high. Methods: A population-level study of N. gonorrhoeae in New Zealand (October 2014 to May 2015). Comprehensive susceptibility testing and WGS data were obtained for 398 isolates. Relatedness was inferred using phylogenetic trees, and pairwise core SNPs...
November 22, 2017: Journal of Antimicrobial Chemotherapy
Ian M Bird, Susie H Kim, Devin K Schweppe, Joana Caetano-Lopes, Alexander G Robling, Julia F Charles, Steven P Gygi, Matthew L Warman, Patrick J Smits
Inactivating mutations in the ubiquitously expressed membrane trafficking component GMAP-210 (encoded by Trip11) cause Achondrogenesis type 1A (ACG1A). ACG1A is surprisingly tissue specific, mainly affecting cartilage development. Bone development is also abnormal, but since chondrogenesis and osteogenesis are closely coupled, this could be a secondary consequence of the cartilage defect. A possible explanation for the tissue specificity of ACG1A is that cartilage and bone are highly secretory tissues with a high usage of the membrane trafficking machinery...
November 27, 2017: Development
Manuel Geyer, Theresa Albrecht, Lorenz Hartl, Volker Mohler
Hybrid wheat breeding has the potential to significantly increase wheat productivity compared to line breeding. The induction of male sterility by the cytoplasm of Triticum timopheevii Zhuk. is a widely discussed approach to ensure cross-pollination between parental inbred lines in hybrid wheat seed production. As fertility restoration in hybrids with this cytoplasm is often incomplete, understanding the underlying genetics is a prerequisite to apply this technology. A promising component for fertility restoration is the restorer locus Rf1, which was first detected on chromosome 1A of the restorer accession R3...
November 24, 2017: Molecular Genetics and Genomics: MGG
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