MOLECULAR DEFINITION OF THE PRADER-WILLI-SYNDROME CHROMOSOME REGION AND ORIENTATION OF THE SNRPN GENE

Authors
BUITING K DITTRICH B GROSS S GREGER V LALANDE M ROBINSON W MUTIRANGURA A LEDBETTER D HORSTHEMKE B
Citation
K. Buiting et al., MOLECULAR DEFINITION OF THE PRADER-WILLI-SYNDROME CHROMOSOME REGION AND ORIENTATION OF THE SNRPN GENE, Human molecular genetics, 2(12), 1993, pp. 1991-1994
Citations number
18
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
Human molecular genetics → ACNP
ISSN journal
09646906
Volume
2
Issue
12
Year of publication
1993
Pages
1991 - 1994
Database
ISI
SICI code
0964-6906(1993)2:12<1991:MDOTPC>2.0.ZU;2-T
Abstract
The Prader-Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromos ome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader-Willi syndrome comprises 320 kb. The region incl udes the anonymous DNA marker PW71 (D15S83) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb dista l to PW71 and is transcribed from centromere to telomere.