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

Genomics. 1993 Dec;18(3):546-52. doi: 10.1016/s0888-7543(11)80011-x.

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 approximately 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Angelman Syndrome / genetics*
  • Autoantigens / genetics*
  • Base Sequence
  • Chromosome Mapping*
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 15*
  • DNA Primers
  • DNA Probes
  • Female
  • Gene Library
  • Genetic Markers
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / genetics*
  • Ribonucleoproteins, Small Nuclear*
  • snRNP Core Proteins

Substances

  • Autoantigens
  • DNA Primers
  • DNA Probes
  • Genetic Markers
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • snRNP Core Proteins