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

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 finding...

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Autores principales: Matsuya, Sumito, Fujino, Kaoru, Imai, Hiroyuki, Kusakabe, Ken Takeshi, Kano, Kiyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Caltech Library 2023
Materias:
New Finding
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10520728/
https://www.ncbi.nlm.nih.gov/pubmed/37767364
http://dx.doi.org/10.17912/micropub.biology.000955
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author Matsuya, Sumito
Fujino, Kaoru
Imai, Hiroyuki
Kusakabe, Ken Takeshi
Kano, Kiyoshi
author_facet Matsuya, Sumito
Fujino, Kaoru
Imai, Hiroyuki
Kusakabe, Ken Takeshi
Kano, Kiyoshi
author_sort Matsuya, Sumito
collection PubMed
description 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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spelling pubmed-105207282023-09-27 Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism Matsuya, Sumito Fujino, Kaoru Imai, Hiroyuki Kusakabe, Ken Takeshi Kano, Kiyoshi MicroPubl Biol New Finding 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. Caltech Library 2023-09-11 /pmc/articles/PMC10520728/ /pubmed/37767364 http://dx.doi.org/10.17912/micropub.biology.000955 Text en Copyright: © 2023 by the authors https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle New Finding
Matsuya, Sumito
Fujino, Kaoru
Imai, Hiroyuki
Kusakabe, Ken Takeshi
Kano, Kiyoshi
Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title_full Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title_fullStr Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title_full_unstemmed Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title_short Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism
title_sort characteristic amino acid residues in the growth hormone receptor gene on mus minutoides underlying dwarfism
topic New Finding
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10520728/
https://www.ncbi.nlm.nih.gov/pubmed/37767364
http://dx.doi.org/10.17912/micropub.biology.000955
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