Hum. Reprod. Advance Access originally published online on February 23, 2006
Human Reproduction 2006 21(6):1477-1483; doi:10.1093/humrep/dei495
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Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature
1 DIBIT, San Raffaele Scientific Institute, Milano, 2 Institute of Molecular Genetics, CNR, Pavia, 3 Department of Medical Genetics, I.R.C.C.S. Saverio de Bellis, Castellana Grotte (Bari) and 4 Department of Pathology and Medical Genetics, University of Pavia, Pavia, Italy
5 To whom correspondence should be addressed at: DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy. E-mail: daniela.toniolo{at}hsr.it
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.
Key words: chromosome rearrangements/gene mapping/premature ovarian failure/Xq
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