Characteristic amino acid residues in the growth hormone receptor gene on underlying dwarfism.

MicroPubl Biol

Laboratory of Developmental Genetics, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Yamaguchi, Japan.

Published: September 2023

The African pygmy mouse ( ) displays a dwarfism phenotype distinctive from closely related species. This study aimed to investigate the growth hormone receptor (Ghr) gene sequence in . We identified several amino acid variations, including the P469L mutation. Our findings suggest that this mutation affects Ghr protein functionality, decreasing expression and contributing to the dwarfism observed in . Further studies utilizing genome editing technology are necessary to elucidate the mechanisms involved in mammalian body size determination.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10520728PMC
http://dx.doi.org/10.17912/micropub.biology.000955DOI Listing

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