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

小鼠侏儒症的生长激素受体基因中的特征性氨基酸残基

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Abstract

The African pygmy mouse ( Mus minutoides ) displays a dwarfism phenotype distinctive from closely related species. This study aimed to investigate the growth hormone receptor (Ghr) gene sequence in M. minutoides . We identified several amino acid variations, including the P469L mutation. Our findings suggest that this mutation affects Ghr protein functionality, decreasing Igf1 expression and contributing to the dwarfism observed in M. minutoides . Further studies utilizing genome editing technology are necessary to elucidate the mechanisms involved in mammalian body size determination.

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