Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes

Cytogenet Genome Res. 2002;97(1-2):32-8. doi: 10.1159/000064052.


Balanced translocations with breakpoints in a critical region of the X chromosome, Xq13-->q26, are associated with premature ovarian failure (POF). Translocations may cause POF either by affecting expression of specific X-linked genes essential for maintenance of normal ovarian function or by a chromosomal effect such as inhibition of meiotic pairing or altered X inactivation. We previously mapped seven Xq translocation breakpoints associated with POF to approximately 75-kb intervals. One translocation disrupted an aminopeptidase gene, XPNPEP2. We have now refined the map location of the remaining six breakpoints with respect to known genes and transcription units predicted from the draft human genome sequence. Only one of the six breakpoints disrupts a gene, DACH2, the human ortholog of a mouse gene expressed in embryonic nervous tissue, sensory organs, and limbs. DACH2 has no obvious relationship to ovarian function. The other five breakpoints fall in apparently intragenic regions. Our results are most consistent with models for POF associated with X;autosome translocations that involve generalized chromosome effects.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Female
  • Genetic Linkage
  • Humans
  • In Situ Hybridization, Fluorescence
  • Mice
  • Models, Genetic
  • Molecular Sequence Data
  • Nuclear Proteins / genetics
  • Primary Ovarian Insufficiency / genetics*
  • Transcription Factors
  • Translocation, Genetic*
  • X Chromosome / genetics*


  • DACH2 protein, human
  • DNA-Binding Proteins
  • Dach2 protein, mouse
  • Nuclear Proteins
  • Transcription Factors
  • DNA