Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

Nat Genet. 1992 Dec;2(4):259-64. doi: 10.1038/ng1292-259.

Abstract

Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 15q11-13, suggesting that PWS is caused by a deficiency in one or more maternally imprinted genes. We have now mapped a gene, Snrpn, encoding a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN, to mouse chromosome 7 in a region of homology with human chromosome 15q11-13 and demonstrated that Snrpn is a maternally imprinted gene in mouse. These studies, in combination with the accompanying human mapping studies showing that SNRPN maps in the Prader-Willi critical region, identify SNRPN as a candidate gene involved in PWS and suggest that PWS may be caused, in part, by defects in mRNA processing.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Autoantigens / genetics*
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Crosses, Genetic
  • DNA / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Models, Genetic
  • Molecular Sequence Data
  • Muridae
  • Prader-Willi Syndrome / genetics*
  • RNA Processing, Post-Transcriptional / genetics
  • Ribonucleoproteins, Small Nuclear / genetics*
  • snRNP Core Proteins

Substances

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