Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

K Buiting; B Dittrich; S Gross; V Greger; M Lalande; W Robinson; A Mutirangura; D Ledbetter; B Horsthemke

doi:10.1093/hmg/2.12.1991

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

Hum Mol Genet. 1993 Dec;2(12):1991-4. doi: 10.1093/hmg/2.12.1991.

Authors

K Buiting¹, B Dittrich, S Gross, V Greger, M Lalande, W Robinson, A Mutirangura, D Ledbetter, B Horsthemke

Affiliation

¹ Institut für Humangenetik, Universitätsklinikum Essen, Germany.

PMID: 8111365
DOI: 10.1093/hmg/2.12.1991

Abstract

The Prader-Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 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 includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Autoantigens / genetics*
Base Sequence
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 15*
Cloning, Molecular
DNA Primers
Humans
Molecular Sequence Data
Polymerase Chain Reaction
Prader-Willi Syndrome / genetics*
Restriction Mapping
Ribonucleoproteins, Small Nuclear / genetics*
Sequence Deletion
snRNP Core Proteins

Substances

Autoantigens
DNA Primers
Ribonucleoproteins, Small Nuclear
SNRPN protein, human
snRNP Core Proteins