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 ab sence of one X chromosome to assorted deletions and translocations to mutat ions in specific genes. The diversity of X chromosome abnormalities associa ted with POF indicates that the disorder is genetically heterogeneous. Pote ntial molecular mechanisms include both dominant and recessive mutations in X-linked genes as well as nonspecific chromosome effects that impair meios is. A list of candidate X-linked POF genes is emerging from molecular studi es of X chromosome abnormalities, data from the Human Genome Project and re lated functional genomics projects, and the results of gene targeting exper iments in mice. Mutational analysis of candidate genes in a large number of women with idiopathic POF is needed to determine which of these genes cont ribute to the cause of this disorder. (J Soc Gynecol Investig 2001;8:S34-S3 6) Copyright (C) 2001 by the Society for Gynecologic Investigation.