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.
Zinn
A R
AR
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical School, Dallas, Texas 75390-8591, USA. andrew.zinn@email.swmed.edu
D005260:Female; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome