Haplotype structure of FSHB, the beta-subunit gene for fertility-associated follicle-stimulating hormone: possible influence of balancing selection.
Haplotype structure of FSHB, the beta-subunit gene for fertility-associated follicle-stimulating hormone: possible influence of balancing selection.
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DOI：
10.1111/j.1469-1809.2006.00299.x
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发表时间：
2007-01
影响因子：
1.9
通讯作者：
Laan M
中科院分区：
文献类型：
--
作者：
Grigorova M;Rull K;Laan M
卵泡刺激素(FSH)是人类生殖所必需的。这种激素的独特功能是由FSHB基因编码的FSH受体结合β亚基提供的。对3个欧洲种群、2个亚洲种群和1个非洲种群以及大猩猩(黑猩猩、大猩猩、猩猩)的FSHB基因进行了重新测序和基因分型，结果显示，FSHB基因的多样性较低，且存在明显的中频等位基因多态。对FSHB的统计检验表明，所有种群都偏离了中性，这表明可能存在平衡选择的影响。确定了两种核心单倍型(每个群体样本的76%-96.6%携带)，它们的序列明显彼此分离。由于生育能力最直接地影响到生物体的适合性，这些单倍型的携带者显然在人类历史上更成功地为下一代做出了贡献。有初步观察表明，第二常见的FSHB单倍型可能与女性快速受孕成功有关。有趣的是，相同的单倍型与与类人猿祖先共享的祖先FSHB变体有关。确定FSHB两个核心变异体的功能结果可能对理解和调节人类生育能力以及辅助不孕症治疗具有重要意义。
Follicle-stimulating hormone (FSH) is essential for human reproduction. The unique functions of this hormone are provided by the FSH receptor-binding beta-subunit encoded by the FSHB gene. Resequencing and genotyping of FSHB in three European, two Asian and one African population, as well as in the great apes (chimpanzee, gorilla, orangutan), revealed low diversity and significant excess of polymorphisms with intermediate frequency alleles. Statistical tests for FSHB showed deviations from neutrality in all populations suggesting a possible effect of balancing selection. Two core haplotypes were identified (carried by 76-96.6% of each population's sample), the sequences of which are clearly separated from each other. As fertility most directly affects an organism's fitness, the carriers of these haplotypes have apparently had more success in human history to contribute to the next generation. There is a preliminary observation suggesting that the second most frequent FSHB haplotype may be associated with rapid conception success in females. Interestingly, the same haplotype is related to an ancestral FSHB variant shared with the ancestor of the great apes. The determination of the functional consequence of the two core FSHB variants may have implications for understanding and regulating human fertility, as well as in assisting infertility treatments.
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影响因子：
9.8
作者：
Akey JM;Eberle MA;Rieder MJ;Carlson CS;Shriver MD;Nickerson DA;Kruglyak L
通讯作者：
Kruglyak L
影响因子：
6.7
作者：
Berger, K;Souza, H;Latronico, AC
通讯作者：
Latronico, AC
影响因子：
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作者：
Huhtaniemi, I
通讯作者：
Huhtaniemi, I
DOI：
10.1098/rstb.2003.1396
发表时间：
2004-02-29
影响因子：
6.3
作者：
Gamble, C;Davies, W;Richards, M
通讯作者：
Richards, M
影响因子：
9.8
作者：
Chen, FC;Li, WH
通讯作者：
Li, WH