Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women
Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women
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DOI：
10.1007/s00439-005-0098-5
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发表时间：
2006-02-01
期刊：
影响因子：
5.3
通讯作者：
Pera, RAR
中科院分区：
文献类型：
--
作者：
Tung, JY;Rosen, MP;Pera, RAR
导致不育的人类生殖细胞产生的定性和定量缺陷很常见，并且至少部分由遗传因素决定[Matzuk 和 Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]。然而，与人类生殖细胞缺陷相关的基因很少被发现。在这项研究中，我们检查了 AZoo 精子样缺失 (DAZL) 基因的变异是否与三个不同男性和女性群体的生殖细胞生成测量相关。我们在 DAZL 中鉴定了 95 个序列变异，并进一步分析了跨种族存在的 12 个单核苷酸多态性 (SNP)。我们发现 12 个 SNP 中有 7 个与至少一个所研究的参数（卵巢早衰或绝经年龄、精子总数或活动精子总数）相关。令人惊讶的是，许多等位基因在男性和女性中表现出相反的作用，这可能是由于男性和女性生殖细胞的遗传要求不同所致。单个 SNP 和单倍型分析表明 DAZL 基因中的 SNP 可能共同作用，影响人类的共同生殖特征。
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 AZoo-spermia-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.