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

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• 作者：Liina Nagirnaja ; Kristiina Rull ; Liis Uuskü ; la ; Pille Hallast ; Marina Grigorova ; Maris Laan
• 关键词：Gonadotropin hormones ; FSHB ; LHB ; HCG beta ; Gene duplications ; Gene conversion ; Selection ; Mutations ; Polymorphisms ; Gene expression
• 刊名：Molecular and Cellular Endocrinology
• 出版年：2010
• 出版时间：25 November 2010
• 年：2010
• 卷：329
• 期：1-2
• 页码：4-16
• 全文大小：969 K

文摘

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.