The X chromosome and the ovary.

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
JournalJournal of the Society for Gynecologic Investigation
Volume8
Issue number1 Suppl Proceedings
StatePublished - Jan 2001

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Primary Ovarian Insufficiency
X Chromosome
Ovary
Chromosome Aberrations
Genes
Human Genome Project
X-Linked Genes
Mutation
Gene Targeting
Meiosis
Genetic Association Studies
Genomics
Chromosomes

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

The X chromosome and the ovary. / Zinn, A. R.

In: Journal of the Society for Gynecologic Investigation, Vol. 8, No. 1 Suppl Proceedings, 01.2001.

Research output: Contribution to journalArticle

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