SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
Nat Genet
; 43(2): 138-41, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21240277
ABSTRACT
DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Recombinases
/
Anemia de Fanconi
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article