Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature

Flavio Rizzolio, Silvia Bione, Cinzia Sala, Mara Goegan, Mattia Gentile, Giuliana Gregato, Elena Rossi, Tiziano Pramparo, Orsetta Zuffardi, Daniela Toniolo

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Abstract

Background: Chromosomal rearrangements in Xq are frequently associated with premature ovarian failure (POF) and have defined a POF 'critical region'. Search for genes responsible for the disorder has been elusive. Methods: We report mapping of novel breakpoints of X;autosome-balanced translocations and interstitial deletions and a review of published X chromosome rearrangements. Results: All the novel POF-associated rearrangements were mapped outside and often very distant from genes. The majority mapped to a gene-poor region in Xq21. In the same region, deletions were reported in women who apparently did not have problems conceiving. Expression analysis of genes flanking breakpoints clustered in a 2-Mb region of Xq21 failed to demonstrate ovary-specific genes. Conclusions: Our results excluded most of the possible explanations for the POF phenotype and suggested that POF should be ascribed to a position effect of the breakpoints on flanking genes. We also showed that while the X breakpoint may affect X-linked genes in the distal part of Xq, from Xq23 to Xq28, interruption of the critical region in Xq21 could be explained by a position effect of the Xq critical region on genes flanking the autosomal breakpoints.

Original languageEnglish
Pages (from-to)1477-1483
Number of pages7
JournalHuman Reproduction
Volume21
Issue number6
DOIs
Publication statusPublished - Jun 2006

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Keywords

  • Chromosome rearrangements
  • Gene mapping
  • Premature ovarian failure
  • Xq

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine

Cite this

Rizzolio, F., Bione, S., Sala, C., Goegan, M., Gentile, M., Gregato, G., Rossi, E., Pramparo, T., Zuffardi, O., & Toniolo, D. (2006). Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature. Human Reproduction, 21(6), 1477-1483. https://doi.org/10.1093/humrep/dei495