Growth Hormone Receptor Mutations Related to Individual Dwarfism

International Journal of Molecular Sciences
Shudai LinXiquan Zhang

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 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 fun...Continue Reading

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Citations

Jan 17, 2020·International Journal of Environmental Research and Public Health·Jiajun ZhouDe Zhou
Jan 23, 2020·Journal of Clinical Medicine·Joanna SmyczyńskaAndrzej Lewiński
Jul 13, 2019·Frontiers in Endocrinology·Carlos DosoutoPeter Humaidan
Mar 7, 2021·Animals : an Open Access Journal From MDPI·ZeWen YuBao Yuan
Apr 6, 2021·Frontiers in Cell and Developmental Biology·Bowen HuXiquan Zhang
Apr 6, 2021·Frontiers in Cell and Developmental Biology·Rachel BleachMarie McIlroy
Aug 28, 2021·International Journal of Molecular Sciences·Andrzej LewińskiRenata Stawerska
Jun 18, 2021·The Journal of Clinical Endocrinology and Metabolism·Afiya AndrewsHelen L Storr
Jul 5, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Behiye Sarıkaya ÖzdemirŞenay Savaş Erdeve

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Methods Mentioned

BETA
glycosylation
ISS

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