文献类型： 外文期刊
作者： Lin, Shudai 1 ; Li, Congjun 4 ; Li, Charles 5 ; Zhang, Xiquan 1 ;
作者机构： 1.South China Agr Univ, Dept Anim Genet Breeding & Reprod, Coll Anim Sci, Guangzhou 510642, Guangdong, Peoples R China
2.South China Agr Univ, Guangdong Prov Key Lab Agroanim Genom & Mol Breed, Guangzhou 510642, Guangdong, Peoples R China
3.South China Agr Univ, Key Lab Chicken Genet Breeding & Reprod, Minist Agr, Guangzhou 510642, Guangdong, Peoples R China
4.ARS, Anim Genom & Improvement Lab, USDA, Beltsville, MD 20705 USA
5.ARS, Anim Biosci & Biotechnol Lab, USDA, Beltsville, MD 20705 USA
关键词： growth hormone receptor; mutation; dwarfism; dysfunction
期刊名称：INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES （ 影响因子：5.923； 五年影响因子：6.132 ）
ISSN： 1422-0067
年卷期： 2018 年 19 卷 5 期
页码：
收录情况： SCI
摘要： Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH-GHR-IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH-GHR-IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development.
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