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- Title
Growth Hormone Receptor Mutations Related to Individual Dwarfism.
- Authors
Lin, Shudai; Li, Congjun; Li, Charles; Zhang, Xiquan
- Abstract
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 <italic>GHR</italic> mutations that lead to failures in the GH–GHR–IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 <italic>GHR</italic> mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four <italic>GHR</italic> defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human <italic>GHR</italic>, 68 occur extracellularly, 13 occur in <italic>GHR</italic> 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 <italic>GHR</italic>. 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.
- Subjects
SOMATOTROPIN receptors; DWARFISM; GENETIC mutation; INSULIN-like growth factor receptors; JANUS kinases
- Publication
International Journal of Molecular Sciences, 2018, Vol 19, Issue 5, p1433
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms19051433