Genetics and Epigenetics最新文献

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Maternal stress, preterm birth, and DNA methylation at imprint regulatory sequences in humans. 母体应激、早产和人类印记调控序列的DNA甲基化。
Genetics and Epigenetics Pub Date : 2014-09-14 eCollection Date: 2014-01-01 DOI: 10.4137/GEG.S18067
Adriana C Vidal, Sara E Benjamin Neelon, Ying Liu, Abbas M Tuli, Bernard F Fuemmeler, Cathrine Hoyo, Amy P Murtha, Zhiqing Huang, Joellen Schildkraut, Francine Overcash, Joanne Kurtzberg, Randy L Jirtle, Edwin S Iversen, Susan K Murphy
{"title":"Maternal stress, preterm birth, and DNA methylation at imprint regulatory sequences in humans.","authors":"Adriana C Vidal,&nbsp;Sara E Benjamin Neelon,&nbsp;Ying Liu,&nbsp;Abbas M Tuli,&nbsp;Bernard F Fuemmeler,&nbsp;Cathrine Hoyo,&nbsp;Amy P Murtha,&nbsp;Zhiqing Huang,&nbsp;Joellen Schildkraut,&nbsp;Francine Overcash,&nbsp;Joanne Kurtzberg,&nbsp;Randy L Jirtle,&nbsp;Edwin S Iversen,&nbsp;Susan K Murphy","doi":"10.4137/GEG.S18067","DOIUrl":"https://doi.org/10.4137/GEG.S18067","url":null,"abstract":"<p><p>In infants exposed to maternal stress in utero, phenotypic plasticity through epigenetic events may mechanistically explain increased risk of preterm birth (PTB), which confers increased risk for neurodevelopmental disorders, cardiovascular disease, and cancers in adulthood. We examined associations between prenatal maternal stress and PTB, evaluating the role of DNA methylation at imprint regulatory regions. We enrolled women from prenatal clinics in Durham, NC. Stress was measured in 537 women at 12 weeks of gestation using the Perceived Stress Scale. DNA methylation at differentially methylated regions (DMRs) associated with H19, IGF2, MEG3, MEST, SGCE/PEG10, PEG3, NNAT, and PLAGL1 was measured from peripheral and cord blood using bisulfite pyrosequencing in a sub-sample of 79 mother-infant pairs. We examined associations between PTB and stress and evaluated differences in DNA methylation at each DMR by stress. Maternal stress was not associated with PTB (OR = 0.98; 95% CI, 0.40-2.40; P = 0.96), after adjustment for maternal body mass index (BMI), income, and raised blood pressure. However, elevated stress was associated with higher infant DNA methylation at the MEST DMR (2.8% difference, P < 0.01) after adjusting for PTB. Maternal stress may be associated with epigenetic changes at MEST, a gene relevant to maternal care and obesity. Reduced prenatal stress may support the epigenomic profile of a healthy infant. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"6 ","pages":"37-44"},"PeriodicalIF":0.0,"publicationDate":"2014-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S18067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910855","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: 106
Copy Number Variation of TLR-7 Gene and its Association with the Development of Systemic Lupus Erythematosus in Female Patients from Yucatan Mexico. 墨西哥尤卡坦半岛女性患者TLR-7基因拷贝数变异及其与系统性红斑狼疮发展的关系
Genetics and Epigenetics Pub Date : 2014-07-22 eCollection Date: 2014-01-01 DOI: 10.4137/GEG.S16707
Guillermo Valencia Pacheco, Darig Cámara Cruz, Lizbeth J González Herrera, Gerardo J Pérez Mendoza, Guadalupe I Adrián Amaro, Yumi E Nakazawa Ueji, Angélica V Angulo Ramírez
{"title":"Copy Number Variation of TLR-7 Gene and its Association with the Development of Systemic Lupus Erythematosus in Female Patients from Yucatan Mexico.","authors":"Guillermo Valencia Pacheco,&nbsp;Darig Cámara Cruz,&nbsp;Lizbeth J González Herrera,&nbsp;Gerardo J Pérez Mendoza,&nbsp;Guadalupe I Adrián Amaro,&nbsp;Yumi E Nakazawa Ueji,&nbsp;Angélica V Angulo Ramírez","doi":"10.4137/GEG.S16707","DOIUrl":"https://doi.org/10.4137/GEG.S16707","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of autoantibodies against self-antigens, which occurs most often in women between 15 and 40 years of age. The innate immunity is involved in the pathogenesis of SLE through TLR- 7. Genetic factors such as copy number variation (CNV) of target genes may contribute to disease development, but this possible risk has not yet been studied in SLE patients from Yucatan, Mexico. The CNV of TLR-7 gene was determined by quantitative polymerase chain reaction assay using TaqMan probes in 80 SLE women and 150 control subjects. The results showed that 10% of SLE patients exhibited more than two copies of TLR-7 gene, whereas no mRNA overexpression was detected. These data suggested that increased CNV of the TLR-7 gene in Yucatan SLE women can be a risk factor for this disease. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"6 ","pages":"31-6"},"PeriodicalIF":0.0,"publicationDate":"2014-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S16707","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910854","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: 12
Effect of FTO Gene and Physical Activity Interaction on Trunk Fat Percentage Among the Newfoundland Population. FTO基因与运动互作对纽芬兰人群躯干脂肪率的影响
Genetics and Epigenetics Pub Date : 2014-06-11 eCollection Date: 2014-01-01 DOI: 10.4137/GEG.S14957
Anthony Payne, Farrell Cahill, Guang Sun, J Concepción Loredo-Osti, Taraneh Abarin
{"title":"Effect of FTO Gene and Physical Activity Interaction on Trunk Fat Percentage Among the Newfoundland Population.","authors":"Anthony Payne,&nbsp;Farrell Cahill,&nbsp;Guang Sun,&nbsp;J Concepción Loredo-Osti,&nbsp;Taraneh Abarin","doi":"10.4137/GEG.S14957","DOIUrl":"https://doi.org/10.4137/GEG.S14957","url":null,"abstract":"<p><strong>Objective: </strong>To explore the effect of FTO gene and physical activity interaction on trunk fat percentage.</p><p><strong>Design and methods: </strong>Subjects are 3,004 individuals from Newfoundland and Labrador whose trunk fat percentage and physical activity were recorded, and who were genotyped for 11 single-nucleotide polymorphisms (SNPs) in the FTO gene. Subjects were stratified by gender. Multiple tests and multiple regressions were used to analyze the effects of physical activity, variants of FTO, age, and their interactions on trunk fat percentage. Dietary information and other environmental factors were not considered.</p><p><strong>Results: </strong>Higher levels of physical activity tend to reduce trunk fat percentage in all individuals. Furthermore, in males, rs9939609 and rs1421085 were significant (α = 0.05) in explaining central body fat, but no SNPs were significant in females. For highly active males, trunk fat percentage varied significantly between variants of rs9939609 and rs1421085, but there is no significant effect among individuals with low activity. The other SNPs examined were not significant in explaining trunk fat percentage.</p><p><strong>Conclusions: </strong>Homozygous male carriers of non-obesity risk alleles at rs9939609 and rs1421085 will have significant reduction in central body fat from physical activity in contrast to homozygous males of the obesity-risk alleles. The additive effect of these SNPs is found in males with high physical activity only.</p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"6 ","pages":"21-30"},"PeriodicalIF":0.0,"publicationDate":"2014-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S14957","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910852","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: 5
Use of epigenetic drugs in disease: an overview. 表观遗传药物在疾病中的应用综述。
Genetics and Epigenetics Pub Date : 2014-05-27 eCollection Date: 2014-01-01 DOI: 10.4137/GEG.S12270
Sarah Heerboth, Karolina Lapinska, Nicole Snyder, Meghan Leary, Sarah Rollinson, Sibaji Sarkar
{"title":"Use of epigenetic drugs in disease: an overview.","authors":"Sarah Heerboth,&nbsp;Karolina Lapinska,&nbsp;Nicole Snyder,&nbsp;Meghan Leary,&nbsp;Sarah Rollinson,&nbsp;Sibaji Sarkar","doi":"10.4137/GEG.S12270","DOIUrl":"https://doi.org/10.4137/GEG.S12270","url":null,"abstract":"<p><p>Epigenetic changes such as DNA methylation and histone methylation and acetylation alter gene expression at the level of transcription by upregulating, downregulating, or silencing genes completely. Dysregulation of epigenetic events can be pathological, leading to cardiovascular disease, neurological disorders, metabolic disorders, and cancer development. Therefore, identifying drugs that inhibit these epigenetic changes are of great clinical interest. In this review, we summarize the epigenetic events associated with different disorders and diseases including cardiovascular, neurological, and metabolic disorders, and cancer. Knowledge of the specific epigenetic changes associated with these types of diseases facilitates the development of specific inhibitors, which can be used as epigenetic drugs. In this review, we discuss the major classes of epigenetic drugs currently in use, such as DNA methylation inhibiting drugs, bromodomain inhibitors, histone acetyl transferase inhibitors, histone deacetylase inhibitors, protein methyltransferase inhibitors, and histone methylation inhibitors and their role in reversing epigenetic changes and treating disease. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"6 ","pages":"9-19"},"PeriodicalIF":0.0,"publicationDate":"2014-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S12270","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910853","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: 246
Bioinformatic Dissecting of TP53 Regulation Pathway Underlying Butyrate-induced Histone Modification in Epigenetic Regulation. 表观遗传调控中丁酸盐诱导组蛋白修饰的TP53调控途径的生物信息学剖析。
Genetics and Epigenetics Pub Date : 2014-03-17 eCollection Date: 2014-01-01 DOI: 10.4137/GEG.S14176
Cong-Jun Li, Robert W Li
{"title":"Bioinformatic Dissecting of TP53 Regulation Pathway Underlying Butyrate-induced Histone Modification in Epigenetic Regulation.","authors":"Cong-Jun Li,&nbsp;Robert W Li","doi":"10.4137/GEG.S14176","DOIUrl":"https://doi.org/10.4137/GEG.S14176","url":null,"abstract":"<p><p>Butyrate affects cell proliferation, differentiation, and motility. Butyrate inhibits histone deacetylase (HDAC) activities and induces cell-cycle arrest and apoptosis. TP53 is one of the most active upstream regulators discovered by ingenuity pathways analysis (IPA) in our RNA-sequencing data set. TP53 signaling pathway plays key role in many cellular processes. TP53 pathway and their involvement in cellular functions modified by butyrate treatment were scrutinized in this report by data mining the RNA-sequencing data using IPA (Ingenuity System(®)). The TP53 mechanistic pathway targets more than 600 genes. Downstream analysis predicted the activation of the TP53 pathway after butyrate treatment. The data mining also revealed that nine transcription factors are downstream regulators in TP53 signaling pathways. The analysis results also indicated that butyrate not only inhibits the HDAC activities, but also regulates genes encoding the HDAC enzymes through modification of histones and epigenomic landscape. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"6 ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2014-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S14176","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910942","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: 5
Epigenetics of autoantigens: new opportunities for therapy of autoimmune diseases. 自身抗原的表观遗传学:自身免疫性疾病治疗的新机遇。
Genetics and Epigenetics Pub Date : 2013-10-29 eCollection Date: 2013-01-01 DOI: 10.4137/GEG.S12144
Marko Radic, Sylviane Muller
{"title":"Epigenetics of autoantigens: new opportunities for therapy of autoimmune diseases.","authors":"Marko Radic,&nbsp;Sylviane Muller","doi":"10.4137/GEG.S12144","DOIUrl":"https://doi.org/10.4137/GEG.S12144","url":null,"abstract":"<p><p>The field of epigenetics requires that traditional divisions between scientific disciplines give way to cross-fertilization of concepts and ideas from different areas of investigation. Such is the case with research in autoimmunity. Recent discoveries of stimuli that induce autoimmunity reveal that epigenetic marks of autoantigens are recognized by autoreactive B and T cell receptors. Thus, insights into the initiation of autoimmunity, its prevention and therapy will arise from understanding the biochemistry, cell biology and microbiology of autoantigen epigenetics. Here, we highlight potential benefits from the inhibition of a histone modifying enzyme and the administration of a phosphorylated, spliceosome-derived peptide, in the treatment of autoimmunity. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"5 ","pages":"63-70"},"PeriodicalIF":0.0,"publicationDate":"2013-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S12144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910941","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: 10
Changes in methylation patterns of kiss1 and kiss1r gene promoters across puberty. kiss1和kiss1r基因启动子甲基化模式在青春期的变化。
Genetics and Epigenetics Pub Date : 2013-10-24 eCollection Date: 2013-01-01 DOI: 10.4137/GEG.S12897
Amanda K Wyatt, Monika Zavodna, Jean L Viljoen, Jo-Ann L Stanton, Neil J Gemmell, Christine L Jasoni
{"title":"Changes in methylation patterns of kiss1 and kiss1r gene promoters across puberty.","authors":"Amanda K Wyatt,&nbsp;Monika Zavodna,&nbsp;Jean L Viljoen,&nbsp;Jo-Ann L Stanton,&nbsp;Neil J Gemmell,&nbsp;Christine L Jasoni","doi":"10.4137/GEG.S12897","DOIUrl":"https://doi.org/10.4137/GEG.S12897","url":null,"abstract":"<p><p>The initiation of mammalian puberty is underpinned by an increase in Kisspeptin (Kiss1) signaling via its receptor (Kiss1r/GPR54) on gonadotropin-releasing hormone (GnRH) neurons. Animals and humans with loss-of-function mutations in Kiss1 or Kiss1r fail to go through puberty. The timing of puberty is dependent on environmental factors, and malleability in puberty timing suggests a mechanism that can translate environmental signals into patterns of Kiss1/Kiss1r gene expression. Epigenetics is a powerful mechanism that can control gene expression in an environment-dependent manner. We investigated whether epigenetic DNA methylation is associated with gene expression changes at puberty. We used bisulfite-PCR-pyrosequencing to define the methylation in the promoters of Kiss1 and Kiss1r before and after puberty in female rats. Both Kiss1 and Kiss1r showed highly significant puberty-specific differential promoter methylation patterns. By identifying key differentially methylated residues associated with puberty, these findings will be important for further studies investigating the control of gene expression across the pubertal transition. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"5 ","pages":"51-62"},"PeriodicalIF":0.0,"publicationDate":"2013-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S12897","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910940","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: 22
DNA demethylation pathways: recent insights. DNA去甲基化途径:最近的见解。
Genetics and Epigenetics Pub Date : 2013-07-28 eCollection Date: 2013-01-01 DOI: 10.4137/GEG.S12143
Cong-Jun Li
{"title":"DNA demethylation pathways: recent insights.","authors":"Cong-Jun Li","doi":"10.4137/GEG.S12143","DOIUrl":"https://doi.org/10.4137/GEG.S12143","url":null,"abstract":"<p><p>DNA methylation is a major epigenetic regulatory mechanism for gene expression and cell differentiation. Until recently, it was still unclear how unmethylated regions in mammalian genomes are protected from de novo methylation and whether or not active demethylating activity is involved. Even the role of molecules and the mechanisms underlying the processes of active demethylation itself is blurred. Emerging sequencing technologies have led to recent insights into the dynamic distribution of DNA methylation during development and the role of this epigenetic mark within a distinct genome context, such as the promoters, exons, or imprinted control regions. This review summarizes recent insights on the dynamic nature of DNA methylation and demethylation, as well as the mechanisms regulating active DNA demethylation in mammalian cells, which have been fundamental research interests in the field of epigenomics. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"5 ","pages":"43-9"},"PeriodicalIF":0.0,"publicationDate":"2013-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S12143","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910938","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: 12
Unexplored potentials of epigenetic mechanisms of plants and animals-theoretical considerations. 植物和动物未开发的表观遗传机制的潜力-理论考虑。
Genetics and Epigenetics Pub Date : 2013-06-30 eCollection Date: 2013-01-01 DOI: 10.4137/GEG.S11752
Istvan Seffer, Zoltan Nemeth, Gyula Hoffmann, Robert Matics, A Gergely Seffer, Akos Koller
{"title":"Unexplored potentials of epigenetic mechanisms of plants and animals-theoretical considerations.","authors":"Istvan Seffer,&nbsp;Zoltan Nemeth,&nbsp;Gyula Hoffmann,&nbsp;Robert Matics,&nbsp;A Gergely Seffer,&nbsp;Akos Koller","doi":"10.4137/GEG.S11752","DOIUrl":"https://doi.org/10.4137/GEG.S11752","url":null,"abstract":"<p><p>Morphological and functional changes of cells are important for adapting to environmental changes and associated with continuous regulation of gene expressions. Genes are regulated-in part-by epigenetic mechanisms resulting in alternating patterns of gene expressions throughout life. Epigenetic changes responding to the environmental and intercellular signals can turn on/off specific genes, but do not modify the DNA sequence. Most epigenetic mechanisms are evolutionary conserved in eukaryotic organisms, and several homologs of epigenetic factors are present in plants and animals. Moreover, in vitro studies suggest that the plant cytoplasm is able to induce a nuclear reassembly of the animal cell, whereas others suggest that the ooplasm is able to induce condensation of plant chromatin. Here, we provide an overview of the main epigenetic mechanisms regulating gene expression and discuss fundamental epigenetic mechanisms and factors functioning in both plants and animals. Finally, we hypothesize that animal genome can be reprogrammed by epigenetic factors from the plant protoplast. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"5 ","pages":"23-41"},"PeriodicalIF":0.0,"publicationDate":"2013-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S11752","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910939","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: 9
Loss of Imprinting of IGF2 Gene in the Chorionic Tissues of Spontaneously Eliminated Human Embryos. IGF2基因印迹在自然淘汰的人类胚胎绒毛膜组织中的缺失。
Genetics and Epigenetics Pub Date : 2013-03-10 eCollection Date: 2013-01-01 DOI: 10.4137/GEG.S11460
Danuta Zastavna, Halyna Makukh, Bogdan Tretjak, Olena Bilevych, Miroslaw Tyrka
{"title":"Loss of Imprinting of IGF2 Gene in the Chorionic Tissues of Spontaneously Eliminated Human Embryos.","authors":"Danuta Zastavna,&nbsp;Halyna Makukh,&nbsp;Bogdan Tretjak,&nbsp;Olena Bilevych,&nbsp;Miroslaw Tyrka","doi":"10.4137/GEG.S11460","DOIUrl":"https://doi.org/10.4137/GEG.S11460","url":null,"abstract":"<p><p>Insulin-like growth factor-2 (IGF-2) is a mitogen, growth and differentiation modulator for many cell types. It is mainly expressed during the prenatal development, and its activity strongly depends on the genomic imprinting. Genomic imprinting in the chorionic tissues of spontaneously eliminated human embryos has been studied on the model of 820-AG (Apa1) of the IGF-2 gene locus. Molecular and genetic analysis was performed on the polymorphic 820-AG IGF2 locus in 107 samples of DNA extracted from the chorionic tissues of spontaneously eliminated human embryos within 5-10 weeks of gestation. Presence of AG genotype Apa1 single nucleotide polymorphisms of the IGF-2 was shown to cause more than a 7-fold increase in the risk of embryo elimination. Thus, the loss of genomic imprinting of the IGF-2 gene may be an important cause of the miscarriages in human. </p>","PeriodicalId":56361,"journal":{"name":"Genetics and Epigenetics","volume":"5 ","pages":"17-22"},"PeriodicalIF":0.0,"publicationDate":"2013-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GEG.S11460","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32910937","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: 3
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