In:
Reproductive Biology and Endocrinology, Springer Science and Business Media LLC, Vol. 4, No. 1 ( 2006-12)
Abstract:
The Deleted-in-AZoospermia-Like (DAZL) gene has homologs required for germ cell development in many organisms. Recently, we showed that there are several common polymorphisms within the DAZL gene that are associated with age at ovarian failure/menopause and sperm count. Methods Here we sought to identify rare mutations in DAZL and examine their phenotypes in men and women. We sequenced the DAZL gene in 519 individuals; sequences spanned the entire coding region of the gene. Results We report the identification of four putative missense mutations in DAZL . Three individuals that were heterozygous for a DAZL mutation reported having children, while two individuals that were homozygous reported no children. These mutations were found only in infertile men and women. Conclusion Given the strong data associating DAZL polymorphisms and deletions with fertility in humans and model organisms, we suggest that these mutations may be associated with age at menopause and/or sperm count and warrant further biochemical and genetic investigation.
Type of Medium:
Online Resource
ISSN:
1477-7827
DOI:
10.1186/1477-7827-4-40
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2006
detail.hit.zdb_id:
2119215-7
SSG:
12
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