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Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.

Authors
  • Rizzolio, F
  • Pramparo, T
  • Sala, C
  • Zuffardi, O
  • De Santis, L
  • Rabellotti, E
  • Calzi, F
  • Fusi, F
  • Bellazzi, R
  • Toniolo, D
Type
Published Article
Journal
Journal of Medical Genetics
Publisher
BMJ
Publication Date
Sep 01, 2009
Volume
46
Issue
9
Pages
585–592
Identifiers
DOI: 10.1136/jmg.2007.056093
PMID: 18628312
Source
Medline
License
Unknown

Abstract

This study reports that such position effect can indeed be demonstrated by analysis of breakpoint regions in somatic cells of POF patients and by the finding that CR1 has a highly heterochromatic organisation, very different from that of the euchromatic autosomal regions involved in the rearrangements. The chromatin organisation of the POF CR1 is likely to be responsible for the epigenetic modifications observed in POF patients. The characteristics of CR1 and its downregulation in oocytes may very well explain its role in POF and the frequency of the POF phenotype in chromosomal rearrangements involving Xq. This study also demonstrates a large and evolutionary conserved domain of the long arm of the X chromosome, largely corresponding to CR1, that may have structural or functional roles, in oocyte maturation or in X chromosome inactivation.

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