Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.

Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.
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DOI:
10.1016/j.mce.2010.04.024
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发表时间:
2010-11-25
影响因子:
4.1
通讯作者:
Laan, Maris
Laan, Maris
中科院分区:
医学2区
文献类型:
--
作者:
Nagirnaja, Liina;Rull, Kristiina;Uuskuela, Liis;Hallast, Pille;Grigorova, Marina;Laan, Maris

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促卵泡激素(FSH)、促黄体生成激素(LH)和绒毛膜促性腺激素(HCG)在人类生殖过程中起着关键作用。尽管促性腺激素β(GtHB)基因具有共同的进化祖先和功能相关性,但单拷贝FSHB(11 p13)和多拷贝LHB/CGB基因(19q13.32)在基因组背景、进化、遗传变异和表达谱方面表现出位点特异性差异。FSHB是一个功能独特的保守基因,位于结构稳定的基因缺失区。与此相反,灵长类特异性LHB/CGB基因簇位于基因丰富的基因组背景下,并展示了进化年轻和不稳定的基因组区域的一个例子。基因簇是由作用于基因座的特定功能的选择和重复子之间频繁的基因转换事件之间的恒定平衡形成的。由于GtHB基因的转录在相应激素的组装中是限速的,因此FSHB和LHB/CGB基因的基因组和遗传背景在很大程度上影响激素产生的概况。
The follicle stimulating hormone (FSH), luteinizing hormone (LH) and chorionic gonadotropin (HCG) play a critical role in human reproduction. Despite the common evolutionary ancestry and functional relatedness of the gonadotropin hormone beta (GtHB) genes, the single-copy FSHB (at 11p13) and the multi-copy LHB/CGB genes (at 19q13.32) exhibit locus-specific differences regarding their genomic context, evolution, genetic variation and expressional profile. FSHB represents a conservative vertebrate gene with a unique function and it is located in a structurally stable gene-poor region. In contrast, the primate-specific LHB/CGB gene cluster is located in a gene-rich genomic context and demonstrates an example of evolutionary young and unstable genomic region. The gene cluster is shaped by a constant balance between selection that acts on specific functions of the loci and frequent gene conversion events among duplicons. As the transcription of the GtHB genes is rate-limiting in the assembly of respective hormones, the genomic and genetic context of the FSHB and the LHB/CGB genes largely affects the profile of the hormone production.
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