BRCA1

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BRCA1 (/ ˌbrækəwʌn / )[1] é um gene humano e o seu produto protéico, respectivamente. O símbolo oficial (BRCA1) e o nome oficial (breast cancer 1, early onset) são curados pelo HGNC - HUGO Gene Nomenclatura Committee[2] . Ortólogos, denominados Brca1, são comuns em outras espécies de mamíferos.[3] [4] O BRCA1 é um gene supressor de tumor humano[5] [6] (para ser mais específico, um gene cuidador), encontrado em todos os seres humanos; a proteína codificada por ele, também denominada pela sinonímia proteína do tipo 1 de suscetibilidade para câncer de mama, é responsável pela reparação de ADN [5]. BRCA1 e BRCA2 são normalmente expressos nas células de câncer da mama e de outros tecidos, onde ajudam a reparação do ADN danificado ou induzem à destruição as células se o ADN não puder ser reparado. Eles estão envolvidos na reparação de lesões cromossómicas com um papel importante na reparação livre de erros de quebras de cadeias duplas de ADN. [6] [7] Se o BRCA1 ou BRCA2 em si está danificado por uma mutação de BRCA, o ADN danificado não é reparado adequadamente , e isso aumenta o risco de câncer de mama. [8] [9] Assim, embora os termos "genes de suscetibilidade ao câncer de mama" e "proteína de suscetibilidade ao câncer de mama" (usados com freqüência, tanto dentro como fora da literatura médica) soam como se eles descrevessem um oncogene, BRCA1 e BRCA2 são genes normais; é a sua mutação que está associada com anormalidades. O BRCA1 trabalha em conjunto com outros supressores tumorais, sensores de danos no ADN, e transdutores de sinal para formar um grande complexo proteíco com múltiplas subunidades conhecido como o complexo de vigilância do genoma associado a BRCA1 (BASC). [10] A proteína BRCA1 associa-se com a ARN-polimerase II, e através do domínio C-terminal, também interage com complexos de histona-desacetilase. Desempenha um papel na transcrição, reparação de quebras de ADN de cadeia dupla [9], ubiquitinação, regulação da transcrição, bem como outras funções. [11]

Interações[editar | editar código-fonte]

O BRCA1 mostrou interação com:

Ver também[editar | editar código-fonte]

Referências

  1. Symbol report: BRCA1 HUGO Gene Nomenclature Committee. Visitado em 29/11/2014.
  2. HUGO Gene Nomenclature Committee. Visitado em 29/11/2014.
  3. Brca1 MGI Mouse Gene Detail - MGI 104537 - breast cancer 1. Visitado em 29/11/2014.
  4. Brca1 (breast cancer 1, early onset) - Rat Genome Database. Visitado em 29/11/2014.
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