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10.1016/j.ajhg.2016.06.032 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2016.06.032 27569549/?report=reader!5011056!27569549     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2016 ; 99 (3): 555-566 Nephropedia Template TP {{tp|p=27569549|t=2016. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome |pdf=|usr=}}{{27569549}} gab.com Text DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27569549 #FOAvip Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across approximately 1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects. Twit Text FOAVip DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27569549 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27569549 #FOAvip English Wikipedia <ref>{{Cite pmid|27569549}}</ref> DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome #MMPMID27569549 Joshi RS; Garg P; Zaitlen N; Lappalainen T; Watson CT; Azam N; Ho D; Li X; Antonarakis SE; Brunner HG; Buiting K; Cheung SW; Coffee B; Eggermann T; Francis D; Geraedts JP; Gimelli G; Jacobson SG; Le Caignec C; de Leeuw N; Liehr T; Mackay DJ; Montgomery SB; Pagnamenta AT; Papenhausen P; Robinson DO; Ruivenkamp C; Schwartz C; Steiner B; Stevenson DA; Surti U; Wassink T; Sharp AJ Am J Hum Genet 2016[Sep]; 99 (3): 555-566 PMID27569549show ga Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across approximately 1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects. |*Parents[MESH] |Alleles[MESH] |Angelman Syndrome/genetics[MESH] |Chromosome Aberrations[MESH] |Chromosomes, Human, Pair 15/genetics[MESH] |Chromosomes, Human/genetics[MESH] |Cohort Studies[MESH] |CpG Islands/genetics[MESH] |DNA Methylation/*genetics[MESH] |Epigenesis, Genetic/*genetics[MESH] |Female[MESH] |Genome, Human/*genetics[MESH] |Genomic Imprinting/genetics[MESH] |Humans[MESH] |Intellectual Disability/genetics[MESH] |Karyotype[MESH] |Male[MESH] |Microtubule-Associated Proteins/genetics[MESH] |Prader-Willi Syndrome/genetics[MESH] |Reproducibility of Results[MESH] |Sequence Analysis, RNA[MESH]DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Ma(epmc).pdf DeepDyve Pubget Overpricing