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

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...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2006-06, Vol.21 (6), p.1477-1483
Main Authors: Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Goegan, Mara, Gentile, Mattia, Gregato, Giuliana, Rossi, Elena, Pramparo, Tiziano, Zuffardi, Orsetta, Toniolo, Daniela
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome Mapping
chromosome rearrangements
Chromosomes, Human, X
Female
Gene Deletion
Gene Expression Regulation
gene mapping
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization
Karyotyping
Medical sciences
Middle Aged
Models, Genetic
Ovary - metabolism
premature ovarian failure
Primary Ovarian Insufficiency - genetics
Translocation, Genetic
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Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/dei495