A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

Apiwat Mutirangura, Arumugam Jayakumar, James S. Sutcliffe, Mitsuyoshi Nakao, Mary Jane Mckinney, Karin Buiting, Bernhard Horsthemke, Arthur L. Beaudet, A. Craig Chinault, David H. Ledbetter

Research output: Contribution to journalArticlepeer-review

84 Scopus citations

Abstract

Since a previous report of a partial YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13), a complete contig spanning approximately 3.5 Mb has been developed. YACs were isolated from two human genomic libraries by PCR and hybridization screening methods. Twenty-three sequence-tagged sites (STSs) were mapped within the contig, a density of ∼ 1 per 200 kb. Overlaps between YAC clones were identified by Alu-PCR dot-blot analysis and confirmed by STS mapping or hybridization with ends of YAC inserts. The gene encoding small nuclear ribonucleoprotein-associated peptide N (SNRPN), recently identified as a candidate gene for Prader-Willi syndrome, was localized within this contig between markers PW71 and TD3-21. Loci mapped within and immediately flanking the Prader-Willi/Angelman chromosome region contig are ordered as follows: cen-IR39-ML34-IR4-3R-TD189-1-PW71-SNRPN-TD3-21-LS6-1-GABRB3,D15S97-GABRA5-IR10-1-CMW1-tel. This YAC contig will be a useful resource for more detailed physical mapping of the region, for generation of new DNA markers, and for mapping or cloning candidate genes for the Prader-Willi and Angelman syndromes.

Original languageEnglish (US)
Pages (from-to)546-552
Number of pages7
JournalGenomics
Volume18
Issue number3
DOIs
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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