Inactivation of the mouse Huntington's disease gene homolog Hdh.
Science
; 269(5222): 407-10, 1995 Jul 21.
Article
en En
| MEDLINE
| ID: mdl-7618107
ABSTRACT
Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To distinguish between "loss of function" and "gain of function" models of HD, the murine HD homolog Hdh was inactivated by gene targeting. Mice heterozygous for Hdh inactivation were phenotypically normal, whereas homozygosity resulted in embryonic death. Homozygotes displayed abnormal gastrulation at embryonic day 7.5 and were resorbing by day 8.5. Thus, huntingtin is critical early in embryonic development, before the emergence of the nervous system. That Hdh inactivation does not mimic adult HD neuropathology suggests that the human disease involves a gain of function.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Enfermedad de Huntington
/
Proteínas del Tejido Nervioso
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Año:
1995
Tipo del documento:
Article
País de afiliación:
Estados Unidos