Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women |
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| Authors: | Joyce Y Tung Mitchell P Rosen Lawrence M Nelson Paul J Turek John S Witte Daniel W Cramer Marcelle I Cedars Renee A Reijo Pera |
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| Institution: | (1) Department of Obstetrics, Gynecology, and Reproductive Sciences, Department of Urology, Program in Human Embryonic Stem Cell Biology, Center for Reproductive Sciences, University of California at San Francisco, San Francisco, CA 94143, USA;(2) Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA;(3) Department of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, CA 94143, USA;(4) OB/gyn Epidemiology Center, Brigham and Women’s Hospital, Boston, MA 02115, USA |
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| Abstract: | Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at
least in part by genetic factors Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41–s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this study, we examined
whether variants of the Deleted in AZoospermia-Like (DAZL) gene are associated with measures of germ cell production in three distinct populations of men and women. We identified
95 sequence variants in DAZL and further analyzed twelve single nucleotide polymorphisms (SNPs) that were present across ethnicities. We found that seven
of the twelve SNPs were associated with at least one of the parameters studied (age at premature ovarian failure or menopause,
total sperm count, or total motile sperm count). Surprisingly, many alleles exhibited opposing effects in men and women, which
may be a result of different genetic requirements in male and female germ cells. Single SNP and haplotype analysis suggested
that SNPs in the DAZL gene may act jointly to affect common reproductive characteristics in the human population.
Electronic Supplementary Material Supplementary material is available for this article at and is accessible for authorized users.
Joyce Y. Tung and Mitchell P. Rosen have contributed equally |
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| Keywords: | DAZL Menopause Spermatogenesis Reproduction Germ cells |
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