The X chromosome and the ovary.
X chromosome abnormalities are the leading identifiable cause of premature ovarian failure (POF). POF-related abnormalities range from the complete absence of one X chromosome to assorted deletions and translocations to mutations in specific genes. The diversity of X chromosome abnormalities associated with POF indicates that the disorder is genetically heterogeneous. Potential molecular mechanisms include both dominant and recessive mutations in X-linked genes as well as nonspecific chromosome effects that impair meiosis. A list of candidate X-linked POF genes is emerging from molecular studies of X chromosome abnormalities, data from the Human Genome Project and related functional genomics projects, and the results of gene targeting experiments in mice. Mutational analysis of candidate genes in a large number of women with idiopathic POF is needed to determine which of these genes contribute to the cause of this disorder.
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical School, Dallas, Texas 75390-8591, USA. andrew.zinn@email.swmed.edu
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D005260:Female; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome