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Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice.
Sloan, Kourtney; Thomas, Jared; Blackwell, Matthew; Voisard, Deanna; Lana-Elola, Eva; Watson-Scales, Sheona; Roper, Daniel L; Wallace, Joseph M; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Roper, Randall J.
Afiliación
  • Sloan K; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
  • Thomas J; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
  • Blackwell M; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
  • Voisard D; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
  • Lana-Elola E; The Francis Crick Institute, London NW1 1AT, UK.
  • Watson-Scales S; The Francis Crick Institute, London NW1 1AT, UK.
  • Roper DL; Data Analytics Computing, Lehi, UT 84043, USA.
  • Wallace JM; Department of Biomedical Engineering, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
  • Fisher EMC; UCL Institute of Neurology, London WC1N 3BG, UK.
  • Tybulewicz VLJ; The Francis Crick Institute, London NW1 1AT, UK.
  • Roper RJ; Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Dis Model Mech ; 16(4)2023 04 01.
Article en En | MEDLINE | ID: mdl-36939025
Down syndrome (DS) phenotypes result from triplicated genes, but the effects of three copy genes are not well known. A mouse mapping panel genetically dissecting human chromosome 21 (Hsa21) syntenic regions was used to investigate the contributions and interactions of triplicated Hsa21 orthologous genes on mouse chromosome 16 (Mmu16) on skeletal phenotypes. Skeletal structure and mechanical properties were assessed in femurs of male and female Dp9Tyb, Dp2Tyb, Dp3Tyb, Dp4Tyb, Dp5Tyb, Dp6Tyb, Ts1Rhr and Dp1Tyb;Dyrk1a+/+/- mice. Dp1Tyb mice, with the entire Hsa21 homologous region of Mmu16 triplicated, display bone deficits similar to those of humans with DS and served as a baseline for other strains in the panel. Bone phenotypes varied based on triplicated gene content, sex and bone compartment. Three copies of Dyrk1a played a sex-specific, essential role in trabecular deficits and may interact with other genes to influence cortical deficits related to DS. Triplicated genes in Dp9Tyb and Dp2Tyb mice improved some skeletal parameters. As triplicated genes can both improve and worsen bone deficits, it is important to understand the interaction between and molecular mechanisms of skeletal alterations affected by these genes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Down Límite: Animals / Female / Humans / Male Idioma: En Revista: Dis Model Mech Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Down Límite: Animals / Female / Humans / Male Idioma: En Revista: Dis Model Mech Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido