Abstract：
:The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13. Paternal only expression of SNRPN has previously been demonstrated by use of cell lines from PWS patients (maternal allele only) and Angelman syndrome (AS) patients (paternal allele only). We have characterized two previously unidentified 5' exons of the SNRPN gene and demonstrate that exons -1 and 0 are included in the full-length transcript. This gene is expressed in a wide range of somatic tissues and at high, approximately equal levels in all regions of the brain. Both the first exon of SNRPN (exon -1) and the putative transcription start site are embedded within a CpG island. This CpG island is extensively methylated on the repressed maternal allele and is unmethylated on the expressed paternal allele, in a wide range of fetal and adult somatic cells. This provides a quick and highly reliable diagnostic assay for PWS and AS, which is based on DNA-methylation analysis that has been tested on > 100 patients in a variety of tissues. Conversely, several CpG sites approximately 22 kb downstream of the transcription start site in intron 5 are preferentially methylated on the expressed paternal allele in somatic tissues and male germ cells, whereas these same sites are unmethylated in fetal oocytes. These findings are consistent with a key role for DNA methylation in the imprinted inheritance and subsequent gene expression of the human SNRPN gene.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Glenn CC,Saitoh S,Jong MT,Filbrandt MM,Surti U,Driscoll DJ,Nicholls RDsubject
Has Abstractpub_date
1996-02-01 00:00:00pages
335-46issue
2eissn
0002-9297issn
1537-6605journal_volume
58pub_type
杂志文章abstract：:Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, w...
journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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doi：
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.09.002
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journal_title：American journal of human genetics
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更新日期：1975-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,meta分析
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2018.10.025
更新日期：2018-12-06 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2003-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2019-03-07 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,meta分析
doi：10.1086/422475
更新日期：2004-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：
更新日期：1991-07-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
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pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.04.018
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302488
更新日期：1999-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/515457
更新日期：1997-06-01 00:00:00
