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| DELETIONS OF A DIFFERENTIALLY METHYLATED CPG ISLAND AT THE SNRPN GENE DEFINE A PUTATIVE IMPRINTING CONTROL REGION |
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| Author(s): SUTCLIFFE JS, NAKAO M, CHRISTIAN S, ORSTAVIK KH, TOMMERUP N, LEDBETTER DH, BEAUDET AL |
| Source: NATURE GENETICS Volume: 8 Issue: 1 Pages: 52-58 Published: SEP 1994 |
| Times Cited: 304 References: 48 |
| Abstract: To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), we have isolated new transcripts from chromosome 15q11-q13. Two novel transcripts located within 300 kilobases telomeric to the small nuclear ribonucleoprotein-associated polypeptide N gene (SNRPN) were paternally expressed in cultured cells, along with SNRPN, defining a large imprinted transcriptional domain. In three PWS patients (two sibs), small deletions remove a differentially methylated CpG island containing a newly described 5' exon alpha of SNRPN, and cause loss of expression for the three imprinted transcripts and altered methylation over hundreds of kilobases. The smallest PWS deletion is familial and asymptomatic with maternal transmission. Our data imply the presence of a paternal imprinting control region near exon alpha. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, DEPT MOLEC & HUMAN GENET, HOUSTON, TX 77030 USA
3. ULLEVAL UNIV HOSP, DEPT MED GENET, OSLO, NORWAY
4. JOHN F KENNEDY INST, DANISH CTR HUMAN GENOME RES, DK-2600 GLOSTRUP, DENMARK
5. NIH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PE157 |
| ISSN: 1061-4036 |
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