title: X-linked premature ovarian failure: a complex disease.
abstract: Involvement of the X chromosome in premature ovarian failure was demonstrated by the relatively frequent chromosomal rearrangements in patients, but the requirement of two X chromosomes for ovarian function was quite unexplained until recently. Review of the data on chromosomal rearrangements suggests that several genes along the X chromosomes contribute to ovarian function. In most instances, no single X chromosome gene has a causative role in premature ovarian failure, and the phenotype is likely to derive from the additive effect of X-linked and non-X-linked factors. Recent data on a small group of balanced X-autosome translocations showed that X-linked premature ovarian failure might also be caused by a different mechanism, namely position effect of the X chromosome on non-X-linked genes, and suggest a peculiar organization of the X chromosome during oogenesis.
authors.affiliation: Department of Molecular Biology and Functional Genomics, Via Olgettina 58, 20132 Milano, Italy. daniela.toniolo@hsr.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
mesh_terms: D000818:Animals; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D009006:Monosomy / Q000235:genetics; D009154:Mutation / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology; D014960:X Chromosome / Q000235:genetics