Genetics and Epigenetics最新文献

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Comprehensive Evaluation of Commercial Bisulfite-Based DNA Methylation Kits and Development of an Alternative Protocol With Improved Conversion Performance. 基于亚硫酸氢盐的商业DNA甲基化试剂盒的综合评估和具有改进转化性能的替代方案的开发。
Genetics and Epigenetics Pub Date : 2018-03-22 eCollection Date: 2018-01-01 DOI: 10.1177/1179237X18766097
Sascha Tierling, Beate Schmitt, Jörn Walter
{"title":"Comprehensive Evaluation of Commercial Bisulfite-Based DNA Methylation Kits and Development of an Alternative Protocol With Improved Conversion Performance.","authors":"Sascha Tierling,&nbsp;Beate Schmitt,&nbsp;Jörn Walter","doi":"10.1177/1179237X18766097","DOIUrl":"https://doi.org/10.1177/1179237X18766097","url":null,"abstract":"<p><p>DNA methylation is the most studied epigenetic modification with a wide range of regulatory functions in mammalian genomes. It almost exclusively resides on CpG dinucleotides and, among others, plays important roles in early embryo development, onset, and maintenance of cancer. During the past 3 decades, many approaches have been developed to discriminate methylated from unmethylated DNA including antibody-based enrichment of methylated DNA, restriction enzyme-based, or hybridization-based methods. The conversion of unmethylated cytosines to uracils by sodium or ammonium bisulfite is regarded as golden standard as this approach requires no enzymatic reaction and provides deep and reliable insight in methylation patterns at single-base resolution. Nowadays, there are many commercial kits for bisulfite conversion available but they perform differently and also vary in protocols and chemicals used. Here, we provide the first comprehensive and comparative evaluation of bisulfite conversion kits observing major differences in conversion efficiency and DNA degradation which greatly affect the performance of downstream applications, ie, polymerase chain reactions (PCRs). Moreover, deep sequencing of amplicons containing oxidized derivates of 5'-methylC shows that none of the tested kits efficiently converts 5'-formylC without substantial conversion of 5'-methylC or 5'-hydroxymethylC. Consequently, we developed a robust and easy-to-use protocol that allows maximal discrimination between 5'-formylC and 5'-methylC/5'-hydroxymethylC with low DNA degradation and high PCR efficiency on the bisulfite-treated DNA. We highly recommend to use our time- and cost-efficient protocol for any genome-wide or local high-resolution bisulfite sequencing application to minimize conversion-dependent error rates.</p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"10 ","pages":"1179237X18766097"},"PeriodicalIF":0.0,"publicationDate":"2018-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1179237X18766097","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35992552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 15
Association of Tissue-Specific DNA Methylation Alterations with α-Thalassemia Southeast Asian Deletion. 组织特异性DNA甲基化改变与α-地中海贫血东南亚缺失的关联。
Genetics and Epigenetics Pub Date : 2017-11-15 eCollection Date: 2017-01-01 DOI: 10.1177/1179237X17736107
Tanapat Pangeson, Phanchana Sanguansermsri, Torpong Sanguansermsri, Teerapat Seeratanachot, Narutchala Suwanakhon, Metawee Srikummool, Worasak Kaewkong, Khwanruedee Mahingsa
{"title":"Association of Tissue-Specific DNA Methylation Alterations with α-Thalassemia Southeast Asian Deletion.","authors":"Tanapat Pangeson,&nbsp;Phanchana Sanguansermsri,&nbsp;Torpong Sanguansermsri,&nbsp;Teerapat Seeratanachot,&nbsp;Narutchala Suwanakhon,&nbsp;Metawee Srikummool,&nbsp;Worasak Kaewkong,&nbsp;Khwanruedee Mahingsa","doi":"10.1177/1179237X17736107","DOIUrl":"https://doi.org/10.1177/1179237X17736107","url":null,"abstract":"<p><p>In the wild-type allele, DNA methylation levels of 10 consecutive CpG sites adjacent to the upstream 5'-breakpoint of α-thalassemia Southeast Asian (SEA) deletion are not different between placenta and leukocytes. However, no previous study has reported the map of DNA methylation in the SEA allele. This report aims to show that the SEA mutation is associated with DNA methylation changes, resulting in differential methylation between placenta and leukocytes. Methylation-sensitive high-resolution analysis was used to compare DNA methylation among placenta, leukocytes, and unmethylated control DNA. The result indicates that the DNA methylation between placenta and leukocyte DNA is different and shows that the CpG status of both is not fully unmethylated. Mapping of individual CpG sites was performed by targeted bisulfite sequencing. The DNA methylation level of the 10 consecutive CpG sites was different between placenta and leukocyte DNA. When the 10th CpG of the mutation allele was considered as a hallmark for comparing DNA methylation level, it was totally different from the unmethylated 10th CpG of the wild-type allele. Finally, the distinct DNA methylation patterns between both DNA were extracted. In total, 24 patterns were found in leukocyte samples and 9 patterns were found in placenta samples. This report shows that the large deletion is associated with DNA methylation change. In further studies for clinical application, the distinct DNA methylation pattern might be a potential marker for detecting cell-free fetal DNA.</p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"9 ","pages":"1179237X17736107"},"PeriodicalIF":0.0,"publicationDate":"2017-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1179237X17736107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35273331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Epigenetic Regulation of Gene Expression Induced by Butyrate in Colorectal Cancer: Involvement of MicroRNA. 丁酸盐诱导结直肠癌基因表达的表观遗传学调控:MicroRNA的参与。
Genetics and Epigenetics Pub Date : 2017-09-25 eCollection Date: 2017-01-01 DOI: 10.1177/1179237X17729900
Karen S Bishop, Huawen Xu, Gareth Marlow
{"title":"Epigenetic Regulation of Gene Expression Induced by Butyrate in Colorectal Cancer: Involvement of MicroRNA.","authors":"Karen S Bishop,&nbsp;Huawen Xu,&nbsp;Gareth Marlow","doi":"10.1177/1179237X17729900","DOIUrl":"https://doi.org/10.1177/1179237X17729900","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is the third most common cause of cancer mortality globally. Development of CRC is closely associated with lifestyle, and diet may modulate risk. A Western-style diet is characterised by a high intake of red meat but low consumption of fruit, vegetables, and whole cereals. Such a diet is associated with CRC risks. It has been demonstrated that butyrate, produced by the fermentation of dietary plant fibre, can alter both genetic and epigenetic expressions. MicroRNAs (miRNAs) are small non-coding RNAs that are commonly present in both normal and tumour cells. Aberrant miRNA expression is associated with CRC initiation, progression, and metastasis. In addition, butyrate can modulate cell proliferation, differentiation, apoptosis, and miRNA expression in CRC. In this review, the effects of butyrate on modulating miRNA expression in CRC will be discussed. Furthermore, evidence on the effect of butyrate on CRC risk through reducing oncogenic miRNA expression will be presented.</p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"9 ","pages":"1179237X17729900"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1179237X17729900","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35474627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
Consistency and Variability of DNA Methylation in Women During Puberty, Young Adulthood, and Pregnancy. 青春期、青年期和妊娠期女性DNA甲基化的一致性和可变性。
Genetics and Epigenetics Pub Date : 2017-07-28 eCollection Date: 2017-01-01 DOI: 10.1177/1179237X17721540
Su Chen, Nandini Mukherjee, Vimala Devi Janjanam, S Hasan Arshad, Ramesh J Kurukulaaratchy, John W Holloway, Hongmei Zhang, Wilfried Karmaus
{"title":"Consistency and Variability of DNA Methylation in Women During Puberty, Young Adulthood, and Pregnancy.","authors":"Su Chen,&nbsp;Nandini Mukherjee,&nbsp;Vimala Devi Janjanam,&nbsp;S Hasan Arshad,&nbsp;Ramesh J Kurukulaaratchy,&nbsp;John W Holloway,&nbsp;Hongmei Zhang,&nbsp;Wilfried Karmaus","doi":"10.1177/1179237X17721540","DOIUrl":"https://doi.org/10.1177/1179237X17721540","url":null,"abstract":"<p><p>Prior DNA methylation (DNA-m) analyses have identified cytosine-phosphate-guanine (CpG) sites, which show either a significant change or consistency during lifetime. However, the proportion of CpGs that are neither significantly different nor consistent over time (indifferent CpGs) is unknown. We investigated the methylation dynamics, both longitudinal changes and consistency, in women from preadolescence to late pregnancy using DNA-m of peripheral blood cells. Consistency of cell type-adjusted DNA-m between paired individuals was assessed by regressing CpGs of subsequent age on the prior, stability by intraclass correlation coefficients (>0.5), and changes by linear mixed models. In the first 2 transitions (10-18 years and 18 years to early pregnancy), 19.5% and 20.9% CpGs were consistent, but only 0.35% in the third transition (from early to late pregnancy). Significant changes in methylation were found in 0.7%, 5.6%, and 0% CpGs, respectively. Functional enrichment analyses of genes with significant changes in DNA-m in early pregnancy (5.6%) showed that the maternal DNA-m seems to reflect signaling pathways between the uterus and the trophoblast. The transition from early to late pregnancy showed low consistency/stability and no changes, suggesting the presence of a large proportion of indifferent CpGs in late pregnancy.</p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"9 ","pages":"1179237X17721540"},"PeriodicalIF":0.0,"publicationDate":"2017-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1179237X17721540","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35273116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 16
Resetting Human Naïve Pluripotency. 重置人类Naïve多能性。
Genetics and Epigenetics Pub Date : 2016-08-04 eCollection Date: 2016-01-01 DOI: 10.4137/GEG.S38093
Jifang Xiao, Daniel H Mai, Liangqi Xie
{"title":"Resetting Human Naïve Pluripotency.","authors":"Jifang Xiao,&nbsp;Daniel H Mai,&nbsp;Liangqi Xie","doi":"10.4137/GEG.S38093","DOIUrl":"https://doi.org/10.4137/GEG.S38093","url":null,"abstract":"<p><p>The rodent naive pluripotent state is believed to represent the preimplantation inner cell mass state of the developing blastocyst and can derive self-renewing pluripotent embryonic stem cells (ESCs) in vitro. Nevertheless, human ESCs exhibit epigenetic, metabolic, and transcriptomic characteristics more akin to primed pluripotent stem cells (PSCs) derived from the postimplantation epiblast. Understanding the genetic and epigenetic mechanisms that constrain human ESCs in the primed state is crucial for the human naive pluripotent state resetting and numerous applications in regenerative medicine. In this review, we begin by defining the naive and primed states in the murine model and compare the epigenetic characteristics of those states to the human PSCs. We also examine the various reprogramming schemes to derive the human naive pluripotent state. Finally, we discuss future perspectives of studying and deriving the human naive PSCs in the context of cellular engineering and regenerative medicine. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"8 ","pages":"37-41"},"PeriodicalIF":0.0,"publicationDate":"2016-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S38093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34746192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
The Evolution of Epigenetics: From Prokaryotes to Humans and Its Biological Consequences. 表观遗传学的进化:从原核生物到人类及其生物学后果。
Genetics and Epigenetics Pub Date : 2016-08-03 eCollection Date: 2016-01-01 DOI: 10.4137/GEG.S31863
Amber Willbanks, Meghan Leary, Molly Greenshields, Camila Tyminski, Sarah Heerboth, Karolina Lapinska, Kathryn Haskins, Sibaji Sarkar
{"title":"The Evolution of Epigenetics: From Prokaryotes to Humans and Its Biological Consequences.","authors":"Amber Willbanks,&nbsp;Meghan Leary,&nbsp;Molly Greenshields,&nbsp;Camila Tyminski,&nbsp;Sarah Heerboth,&nbsp;Karolina Lapinska,&nbsp;Kathryn Haskins,&nbsp;Sibaji Sarkar","doi":"10.4137/GEG.S31863","DOIUrl":"https://doi.org/10.4137/GEG.S31863","url":null,"abstract":"<p><p>The evolution process includes genetic alterations that started with prokaryotes and now continues in humans. A distinct difference between prokaryotic chromosomes and eukaryotic chromosomes involves histones. As evolution progressed, genetic alterations accumulated and a mechanism for gene selection developed. It was as if nature was experimenting to optimally utilize the gene pool without changing individual gene sequences. This mechanism is called epigenetics, as it is above the genome. Curiously, the mechanism of epigenetic regulation in prokaryotes is strikingly different from that in eukaryotes, mainly higher eukaryotes, like mammals. In fact, epigenetics plays a significant role in the conserved process of embryogenesis and human development. Malfunction of epigenetic regulation results in many types of undesirable effects, including cardiovascular disease, metabolic disorders, autoimmune diseases, and cancer. This review provides a comparative analysis and new insights into these aspects. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"8 ","pages":"25-36"},"PeriodicalIF":0.0,"publicationDate":"2016-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S31863","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34746191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 57
Assessing the Causality Factors in the Association between (Abdominal) Obesity and Physical Activity among the Newfoundland Population-A Mendelian Randomization Analysis. 评估纽芬兰人群(腹部)肥胖与体育活动之间的因果关系——孟德尔随机分析
Genetics and Epigenetics Pub Date : 2016-07-24 eCollection Date: 2016-01-01 DOI: 10.4137/GEG.S38289
Frank Barning, Taraneh Abarin
{"title":"Assessing the Causality Factors in the Association between (Abdominal) Obesity and Physical Activity among the Newfoundland Population-A Mendelian Randomization Analysis.","authors":"Frank Barning,&nbsp;Taraneh Abarin","doi":"10.4137/GEG.S38289","DOIUrl":"https://doi.org/10.4137/GEG.S38289","url":null,"abstract":"<p><p>A total of 1,263 adults from Newfoundland and Labrador were studied in the research. Body mass index (BMI) and percent trunk fat (PTF) were analyzed as biomarkers for obesity. The Mendelian randomization (MR) approach with two single-nucleotide polymorphisms in the fat-mass and obesity (FTO) gene as instruments was employed to assess the causal effect. In both genders, increasing physical activity significantly reduced BMI and PTF when adjusted for age and the FTO gene. The effect of physical activity was stronger on PTF than BMI. Direct observational analyses showed significant increase in BMI/PTF when physical activity decreased. A similar association in MR analyses was not significant. The association between physical activity and BMI/PTF could be due to reversed causality or common confounding factors. Our study provides insights into the causal contributions of obesity to physical activity in adults. Health intervention strategies to increase physical activity among adults should include some other plans such as improving diet for reducing obesity. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"8 ","pages":"15-24"},"PeriodicalIF":0.0,"publicationDate":"2016-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S38289","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34720777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
A STAT6 Intronic Single-Nucleotide Polymorphism is Associated with Clinical Malaria in Ghanaian Children. STAT6内含子单核苷酸多态性与加纳儿童临床疟疾有关
Genetics and Epigenetics Pub Date : 2016-05-29 eCollection Date: 2016-01-01 DOI: 10.4137/GEG.S38307
Daniel Amoako-Sakyi, Selorme Adukpo, Kwadwo A Kusi, Daniel Dodoo, Michael F Ofori, George O Adjei, Dominic E Edoh, Richard H Asmah, Charles Brown, Bright Adu, Dorcas Obiri-Yeboah, Godfred Futagbi, Sharif Buari Abubakari, Marita Troye-Blomberg, Bartholomew D Akanmori, Bamenla Q Goka, John Arko-Mensah, Ben A Gyan
{"title":"A STAT6 Intronic Single-Nucleotide Polymorphism is Associated with Clinical Malaria in Ghanaian Children.","authors":"Daniel Amoako-Sakyi, Selorme Adukpo, Kwadwo A Kusi, Daniel Dodoo, Michael F Ofori, George O Adjei, Dominic E Edoh, Richard H Asmah, Charles Brown, Bright Adu, Dorcas Obiri-Yeboah, Godfred Futagbi, Sharif Buari Abubakari, Marita Troye-Blomberg, Bartholomew D Akanmori, Bamenla Q Goka, John Arko-Mensah, Ben A Gyan","doi":"10.4137/GEG.S38307","DOIUrl":"10.4137/GEG.S38307","url":null,"abstract":"<p><p>Malaria pathogenesis may be influenced by IgE responses and cytokine cross-regulation. Several mutations in the IL-4/STAT6 signaling pathway can alter cytokine cross-regulation and IgE responses during a Plasmodium falciparum malarial infection. This study investigated the relationship between a STAT6 intronic single-nucleotide polymorphism (rs3024974), total IgE, cytokines, and malaria severity in 238 Ghanaian children aged between 0.5 and 13 years. Total IgE and cytokine levels were measured by ELISA, while genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (RFLP). Compared with healthy controls, heterozygosity protected against clinical malaria: uncomplicated malaria (odds ratios [OR] = 0.13, P < 0.001), severe malarial anemia (OR = 0.18, P < 0.001), and cerebral malaria (OR = 0.39, P = 0.022). Levels of total IgE significantly differed among malaria phenotypes (P = 0.044) and rs3024974 genotypes (P = 0.037). Neither cytokine levels nor IL-6/IL-10 ratios were associated with malaria phenotypes or rs3024974 genotypes. This study suggests a role for rs3024974 in malaria pathogenesis and offers further insights into an IL-4/STAT6 pathway mutation in malaria pathogenesis. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"8 ","pages":"7-14"},"PeriodicalIF":0.0,"publicationDate":"2016-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34625775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Csf2 and Ptgs2 Epigenetic Dysregulation in Diabetes-prone Bicongenic B6.NODC11bxC1tb Mice. Csf2和Ptgs2在糖尿病易发双基因B6中的表观遗传失调。NODC11bxC1tb老鼠。
Genetics and Epigenetics Pub Date : 2015-10-11 eCollection Date: 2015-01-01 DOI: 10.4137/GEG.S29696
Erin Garrigan, Nicole S Belkin, Federica Seydel, Zhao Han, Jamal Carter, Marcia McDuffie, Laurence Morel, Ammon B Peck, Michael J Clare-Salzler, Mark Atkinson, Clive Wasserfall, Abdoreza Davoodi-Semiromi, Jing-da Shi, Carrie Haskell-Luevano, Li-Jun Yang, John J Alexander, Autumn Cdebaca, Teresa Piliant, Corin Riggs, Matthew Amick, Sally A Litherland
{"title":"Csf2 and Ptgs2 Epigenetic Dysregulation in Diabetes-prone Bicongenic B6.NODC11bxC1tb Mice.","authors":"Erin Garrigan,&nbsp;Nicole S Belkin,&nbsp;Federica Seydel,&nbsp;Zhao Han,&nbsp;Jamal Carter,&nbsp;Marcia McDuffie,&nbsp;Laurence Morel,&nbsp;Ammon B Peck,&nbsp;Michael J Clare-Salzler,&nbsp;Mark Atkinson,&nbsp;Clive Wasserfall,&nbsp;Abdoreza Davoodi-Semiromi,&nbsp;Jing-da Shi,&nbsp;Carrie Haskell-Luevano,&nbsp;Li-Jun Yang,&nbsp;John J Alexander,&nbsp;Autumn Cdebaca,&nbsp;Teresa Piliant,&nbsp;Corin Riggs,&nbsp;Matthew Amick,&nbsp;Sally A Litherland","doi":"10.4137/GEG.S29696","DOIUrl":"https://doi.org/10.4137/GEG.S29696","url":null,"abstract":"<p><p>In Type 1 diabetic (T1D) human monocytes, STAT5 aberrantly binds to epigenetic regulatory sites of two proinflammatory genes, CSF2 (encoding granulocyte-macrophage colony-stimulating factor) and PTGS2 (encoding prostaglandin synthase 2/cyclooxygenase 2). Bicongenic B6.NOD C11bxC1tb mice re-create this phenotype of T1D monocytes with only two nonobese diabetic (NOD) Idd subloci (130.8 Mb-149.7 Mb, of Idd5 on Chr 1 and 32.08-53.85 Mb of Idd4.3 on Chr11) on C57BL/6 genetic background. These two Idd loci interact through STAT5 binding at upstream regulatory regions affecting Csf2 (Chr 11) and Ptgs2 (Chr 1) expression. B6.NODC11bxC1tb mice exhibited hyperglycemia and immune destruction of pancreatic islets between 8 and 30 weeks of age, with 12%-22% penetrance. Thus, B6.NODC11bxC1tb mice embody NOD epigenetic dysregulation of gene expression in myeloid cells, and this defect appears to be sufficient to impart genetic susceptibility to diabetes in an otherwise genetically nonautoimmune mouse. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"7 ","pages":"5-17"},"PeriodicalIF":0.0,"publicationDate":"2015-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S29696","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34297563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players. 血管紧张素-1转换酶插入/缺失和α-肌动蛋白-3密码子577多态性在土耳其男子足球运动员中的分布
Genetics and Epigenetics Pub Date : 2015-09-20 eCollection Date: 2015-01-01 DOI: 10.4137/GEG.S31479
Korkut Ulucan, Canan Sercan, Türker Biyikli
{"title":"Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players.","authors":"Korkut Ulucan,&nbsp;Canan Sercan,&nbsp;Türker Biyikli","doi":"10.4137/GEG.S31479","DOIUrl":"https://doi.org/10.4137/GEG.S31479","url":null,"abstract":"<p><p>Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE. For ACE genotype, 16%, 44%, and 40% of the players had insertion/insertion (II), insertion/deletion (ID), and deletion/deletion (DD) genotypes, respectively, whereas 20% had XX, 36% had RX, and 44% had RR genotypes for ACTN3. When we examined the allelic percentages, for ACE, D allele was recorded as 62 and I as 38, and for ACTN3, R allele was 62 and X was 38. Our results were in agreement with the previous reports, indicating the presence of ACTN3 D and ACE X allele in soccer players. We suggest that ACE and ACTN3 genotypes are important biomarkers for genetic counseling for the individuals who are prone to be successful soccer players. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"7 ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2015-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S31479","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34138877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 26
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