Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men

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Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men

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Title: Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men
Author: Tung, Joyce Y; Rosen, Mitchell P; Nelson, Lawrence M; Turek, Paul J; Witte, John S; Cramer, Daniel William; Cedars, Marcelle I; Reijo Pera, Renee A

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Citation: Tung, Joyce Y., Mitchell P. Rosen, Lawrence M. Nelson, Paul J. Turek, John S. Witte, Daniel W. Cramer, Marcelle I. Cedars, and Renee A. Reijo-Pera. "Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men." Reprod Biol Endocrinol 4 (2006): 40.
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Abstract: Background

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.
Published Version: doi:10.1186/1477-7827-4-40
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1557510/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:27337011
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