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10.1086/302233 http://scihub22266oqcxt.onion/10.1086/302233 9973278/?report=reader!1377750!9973278     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=9973278&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 1999 ; 64 (2): 397-413 Nephropedia Template TP {{tp|p=9973278|t=1999. Imprinting-mutation mechanisms in Prader-Willi syndrome |pdf=|usr=}}{{9973278}} gab.com Text Imprinting-mutation mechanisms in Prader-Willi syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=9973278 #FOAvip Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process. The IC controls resetting of parental imprints in 15q11-q13 during gametogenesis. We have identified a larger series of cases of familial PWS, including one case with a deletion of only 7.5 kb, that narrows the PWS critical region to <4. 3 kb spanning the SNRPN gene CpG island and exon 1. Identification of a strong DNase I hypersensitive site, specific for the paternal allele, and six evolutionarily conserved (human-mouse) sequences that are potential transcription-factor binding sites is consistent with this region defining the SNRPN gene promoter. These findings suggest that promoter elements at SNRPN play a key role in the initiation of imprint switching during spermatogenesis. We also identified three patients with sporadic PWS who have an imprinting mutation (IM) and no detectable mutation in the IC. An inherited 15q11-q13 mutation or a trans-factor gene mutation are unlikely; thus, the disease in these patients may arise from a developmental or stochastic failure to switch the maternal-to-paternal imprint during parental spermatogenesis. These studies allow a better understanding of a novel mechanism of human disease, since the epigenetic effect of an IM in the parental germ line determines the phenotypic effect in the patient. Twit Text FOAVip Imprinting-mutation mechanisms in Prader-Willi syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=9973278 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=9973278 #FOAvip English Wikipedia <ref>{{Cite pmid|9973278}}</ref> Imprinting-mutation mechanisms in Prader-Willi syndrome #MMPMID9973278 Ohta T; Gray TA; Rogan PK; Buiting K; Gabriel JM; Saitoh S; Muralidhar B; Bilienska B; Krajewska-Walasek M; Driscoll DJ; Horsthemke B; Butler MG; Nicholls RD Am J Hum Genet 1999[Feb]; 64 (2): 397-413 PMID9973278show ga Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process. The IC controls resetting of parental imprints in 15q11-q13 during gametogenesis. We have identified a larger series of cases of familial PWS, including one case with a deletion of only 7.5 kb, that narrows the PWS critical region to <4. 3 kb spanning the SNRPN gene CpG island and exon 1. Identification of a strong DNase I hypersensitive site, specific for the paternal allele, and six evolutionarily conserved (human-mouse) sequences that are potential transcription-factor binding sites is consistent with this region defining the SNRPN gene promoter. These findings suggest that promoter elements at SNRPN play a key role in the initiation of imprint switching during spermatogenesis. We also identified three patients with sporadic PWS who have an imprinting mutation (IM) and no detectable mutation in the IC. An inherited 15q11-q13 mutation or a trans-factor gene mutation are unlikely; thus, the disease in these patients may arise from a developmental or stochastic failure to switch the maternal-to-paternal imprint during parental spermatogenesis. These studies allow a better understanding of a novel mechanism of human disease, since the epigenetic effect of an IM in the parental germ line determines the phenotypic effect in the patient. |*Chromosomes, Human, Pair 15[MESH] |*Genomic Imprinting[MESH] |*Mutation[MESH] |*Ribonucleoproteins, Small Nuclear[MESH] |Adult[MESH] |Animals[MESH] |Autoantigens[MESH] |Base Sequence[MESH] |Child[MESH] |Child, Preschool[MESH] |DNA Methylation[MESH] |Deoxyribonuclease I[MESH] |Evolution, Molecular[MESH] |Female[MESH] |Gene Expression[MESH] |Genetic Markers[MESH] |Humans[MESH] |Male[MESH] |Mice[MESH] |Molecular Sequence Data[MESH] |Pedigree[MESH] |Prader-Willi Syndrome/*genetics[MESH]Imprinting-mutation mechanisms in Prader-Willi syndrome (epmc).pdf DeepDyve Pubget Overpricing