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

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.

SUBMITTER: Matsuya S

PROVIDER: S-EPMC10520728 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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

Matsuya Sumito S Fujino Kaoru K Imai Hiroyuki H Kusakabe Ken Takeshi KT Kano Kiyoshi K

microPublication biology 20230911

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 util ...[more]

PMID: 37767364

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