MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Nat Genet
; 47(11): 1260-3, 2015 Nov.
Article
em En
| MEDLINE
| ID: mdl-26437028
ABSTRACT
Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Vertebrados
/
Mutação Puntual
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Padronização Corporal
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Metaloproteinases da Matriz Secretadas
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Síndrome de Heterotaxia
Limite:
Animals
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Female
/
Humans
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Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
França