NR0B1

NR0B1 é um gene que providencia instruções para a formação de uma proteína denominada DAX1. Esta proteína exerce um papel importante no desenvolvimento normal de vários tecidos produtores de hormonas. Estes tecidos incluem as glândulas adrenais, a pituitária e o hipotálamo. DAX1 controla a actividade de certos genes nas células que formam estestecidos, durante o desenvolvimento embrionário. As proteínas que controlam a actividade de outros genes denominam.se por factores de transcrição. DAX1 também exerce um papel na regulação da produção hormonal nestes tecidos, após terem sido formados.

O gene NR0B1 está localizado no braço curto do cromossoma X, entre as posições 21.3 e 21.2.

Leitura de apoio

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Muscatelli F, Strom TM, Walker AP; et al. (1995). «Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.». Nature. 372 (6507): 672–6. PMID 7990958. doi:10.1038/372672a0
Guo W, Burris TP, McCabe ER (1996). «Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.». Biochem. Mol. Med. 56 (1): 8–13. PMID 8593542. doi:10.1006/bmme.1995.1049
Yanase T, Takayanagi R, Oba K; et al. (1996). «New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.». J. Clin. Endocrinol. Metab. 81 (2): 530–5. PMID 8636263. doi:10.1210/jc.81.2.530
Guo W, Burris TP, Zhang YH; et al. (1996). «Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.». J. Clin. Endocrinol. Metab. 81 (7): 2481–6. PMID 8675564. doi:10.1210/jc.81.7.2481
Nakae J, Tajima T, Kusuda S; et al. (1996). «Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.». J. Clin. Endocrinol. Metab. 81 (10): 3680–5. PMID 8855822. doi:10.1210/jc.81.10.3680
Schwartz M, Blichfeldt S, Müller J (1997). «X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.». Hum. Genet. 99 (1): 83–7. PMID 9003500. doi:10.1007/s004390050316
Takahashi T, Shoji Y, Shoji Y; et al. (1997). «Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.». J. Pediatr. 130 (3): 485–8. PMID 9063431. doi:10.1016/S0022-3476(97)70217-8
Nakae J, Abe S, Tajima T; et al. (1997). «Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.». J. Clin. Endocrinol. Metab. 82 (11): 3835–41. PMID 9360549. doi:10.1210/jc.82.11.3835
Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P (1997). «DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.». Nature. 390 (6657): 311–5. PMID 9384387. doi:10.1038/36899

Ligações externas

GeneCard for NR0B1