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Null mutation of the endothelin receptor type B gene causes embryonic death in the GK rat.
Wang, Jinxi; Dang, Ruihua; Miyasaka, Yoshiki; Hattori, Kousuke; Torigoe, Daisuke; Okamura, Tadashi; Tag-Ei-Din-Hassan, Hassan T; Morimatsu, Masami; Mashimo, Tomoji; Agui, Takashi.
Afiliación
  • Wang J; Laboratory of Laboratory Animal Science and Medicine, Department of Applied Veterinary Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan.
  • Dang R; Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.
  • Miyasaka Y; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
  • Hattori K; Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.
  • Torigoe D; Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.
  • Okamura T; Laboratory of Laboratory Animal Science and Medicine, Department of Applied Veterinary Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan.
  • Tag-Ei-Din-Hassan HT; Section of Animal Models, Department of Infectious Diseases, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
  • Morimatsu M; Laboratory of Laboratory Animal Science and Medicine, Department of Applied Veterinary Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan.
  • Mashimo T; Poultry Production Department, Faculty of Agriculture, Mansoura University, Mansoura, Egypt.
  • Agui T; Laboratory of Laboratory Animal Science and Medicine, Department of Applied Veterinary Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan.
PLoS One ; 14(6): e0217132, 2019.
Article en En | MEDLINE | ID: mdl-31170185
The Hirschsprung disease (HSCR) is an inherited disease that is controlled by multiple genes and has a complicated genetic mechanism. HSCR patients suffer from various extents of constipation due to dysplasia of the enteric nervous system (ENS), which can be so severe as to cause complete intestinal obstruction. Many genes have been identified as playing causative roles in ENS dysplasia and HSCR, among them the endothelin receptor type B gene (Ednrb) has been identified to play an important role. Mutation of Ednrb causes a series of symptoms that include deafness, pigmentary abnormalities, and aganglionosis. In our previous studies of three rat models carrying the same spotting lethal (sl) mutation on Ednrb, the haplotype of a region on chromosome (Chr) 2 was found to be responsible for the differing severities of the HSCR-like symptoms. To confirm that the haplotype of the responsible region on Chr 2 modifies the severity of aganglionosis caused by Ednrb mutation and to recreate a rat model with severe symptoms, we selected the GK inbred strain, whose haplotype in the responsible region on Chr 2 resembles that of the rat strain in which severe symptoms accompany the Ednrbsl mutation. An Ednrb mutation was introduced into the GK rat by crossing with F344-Ednrbsl and by genome editing. The null mutation of Ednrb was found to cause embryonic death in F2 progeny possessing the GK haplotype in the responsible region on Chr 2. The results of this study are unexpected, and they provide new clues and animal models that promise to contribute to studies on the genetic regulatory network in the development of ENS and on embryogenesis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor de Endotelina B / Pérdida del Embrión / Mutación con Pérdida de Función Tipo de estudio: Etiology_studies Límite: Animals Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor de Endotelina B / Pérdida del Embrión / Mutación con Pérdida de Función Tipo de estudio: Etiology_studies Límite: Animals Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos