Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women.
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.
Tung
Joyce Y
JY
Department of Obstetrics, Program in Human Embryonic Stem Cell Biology, Center for Reproductive Sciences, University of California at San Francisco, San Francisco, CA 94143, USA. reijo@itsa.ucsf.edu
Rosen
Mitchell P
MP
Nelson
Lawrence M
LM
Turek
Paul J
PJ
Witte
John S
JS
Cramer
Daniel W
DW
Cedars
Marcelle I
MI
Pera
Renee A Reijo
RA
D000293:Adolescent; D000328:Adult; D002452:Cell Count; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008593:Menopause; D008875:Middle Aged; D009866:Oogenesis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D012098:Reproduction / Q000235:genetics*; D013076:Sperm Count; D013091:Spermatogenesis / Q000235:genetics
C101358:DAZL protein, human; D016601:RNA-Binding Proteins