Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21

Genomics. 1997 Feb 15;40(1):123-31. doi: 10.1006/geno.1996.4542.

Abstract

Eleven balanced X-autosome translocations associated with premature ovarian failure (POF) were mapped to a YAC contig spanning most of Xq21 and constructed between the DXS223 and DXS1171 loci. The contig corresponds to a genomic region of about 15 Mb and contains the whole X-Y homologous region. The most proximal and most distal breakpoints associated with POF were mapped 15 Mb apart. The remaining breakpoints were localized along this large region, in the X-specific and in the X-Y homologous region. Four of the YACs contained two breakpoints in the same or in flanking STS intervals. Our results confirm the cytological findings and suggest that a minimum number of eight different genes in Xq21 may be involved with ovary development. Interruption of such loci could be the cause of POF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins*
  • Chromosome Breakage
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Female
  • Formins
  • Humans
  • In Situ Hybridization, Fluorescence
  • Primary Ovarian Insufficiency / genetics*
  • X Chromosome*

Substances

  • Carrier Proteins
  • DIAPH2 protein, human
  • Formins

Grants and funding