Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women
- 22 November 2005
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 118 (6) , 730-740
- https://doi.org/10.1007/s00439-005-0098-5
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.Keywords
This publication has 37 references indexed in Scilit:
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- Lack of the T54A polymorphism of the DAZL gene in infertile Italian patientsMolecular Human Reproduction, 2004
- A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype DataAmerican Journal of Human Genetics, 2003
- Genetic dissection of mammalian fertility pathwaysNature Cell Biology, 2002
- A New Statistical Method for Haplotype Reconstruction from Population DataAmerican Journal of Human Genetics, 2001
- A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human SterilityAmerican Journal of Human Genetics, 1998
- Fragile X Premutations Are Not a Major Cause of Early MenopauseAmerican Journal of Human Genetics, 1997
- Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failureCell, 1995
- Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein geneNature Genetics, 1995
- Translational regulation of nanos by RNA localizationNature, 1994