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Versione delle 12:58, 8 nov 2010
PROP1 è un gene umano codificante per la proteina Homeobox protein prophet of Pit-1 .[1][2]
| Homeobox protein prophet of Pit-1 | |
|---|---|
| Gene | |
| HUGO | PROP-1 |
| Entrez | 5626 |
| Locus | Chr. 5 q |
| Proteina | |
| OMIM | 601538 |
PROP1 ha sia un'attività legante il DNA che attivante la trascrizione. La sua espressione porta a genesi delle cellule gonadotrope dell'ipofisi così come le somatotrope, lattotrope e tireotrope. Mutazioni inattivanti PROP-1 causano deficit di LH (LH; MIM 152780, follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolattina (PRL; MIM 176760), e thyroid-stimulating hormone (TSH; MIM 188540). (CPHD; MIM 262600).[supplied by OMIM][2]
Fonti
- ^ Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG, Mutations in PROP1 cause familial combined pituitary hormone deficiency, in Nat Genet, vol. 18, n. 2, Feb 1998, pp. 147–9, DOI:10.1038/ng0298-147.
- ^ a b Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor, su ncbi.nlm.nih.gov.
Approfondimenti
- Osorio MG, Kopp P, Marui S, et al., Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1., in J. Clin. Endocrinol. Metab., vol. 85, n. 8, 2000, pp. 2779–85, DOI:10.1210/jc.85.8.2779.
- Dasen JS, Rosenfeld MG, Signaling and transcriptional mechanisms in pituitary development., in Annu. Rev. Neurosci., vol. 24, 2001, pp. 327–55, DOI:10.1146/annurev.neuro.24.1.327.
- Mody S, Brown MR, Parks JS, The spectrum of hypopituitarism caused by PROP1 mutations., in Best Pract. Res. Clin. Endocrinol. Metab., vol. 16, n. 3, 2003, pp. 421–31, DOI:10.1053/beem.2002.0218.
- Rodriguez R, Andersen B, Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency., in Minerva Endocrinol., vol. 28, n. 2, 2003, pp. 123–33.
- Fofanova O, Takamura N, Kinoshita E, et al., Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency., in J. Clin. Endocrinol. Metab., vol. 83, n. 7, 1998, pp. 2601–4, DOI:10.1210/jc.83.7.2601.
- Amendt BA, Sutherland LB, Semina EV, Russo AF, The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities., in J. Biol. Chem., vol. 273, n. 32, 1998, pp. 20066–72, DOI:10.1074/jbc.273.32.20066.
- Cogan JD, Wu W, Phillips JA, et al., The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency., in J. Clin. Endocrinol. Metab., vol. 83, n. 9, 1998, pp. 3346–9, DOI:10.1210/jc.83.9.3346.
- Flück C, Deladoey J, Rutishauser K, et al., Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)., in J. Clin. Endocrinol. Metab., vol. 83, n. 10, 1998, pp. 3727–34, DOI:10.1210/jc.83.10.3727.
- Duquesnoy P, Roy A, Dastot F, et al., Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency., in FEBS Lett., vol. 437, n. 3, 1998, pp. 216–20, DOI:10.1016/S0014-5793(98)01234-4.
- Rosenbloom AL, Almonte AS, Brown MR, et al., Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene., in J. Clin. Endocrinol. Metab., vol. 84, n. 1, 1999, pp. 50–7, DOI:10.1210/jc.84.1.50.
- Mendonca BB, Osorio MG, Latronico AC, et al., Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene., in J. Clin. Endocrinol. Metab., vol. 84, n. 3, 1999, pp. 942–5, DOI:10.1210/jc.84.3.942.
- Nakamura Y, Usui T, Mizuta H, et al., Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans., in J. Clin. Endocrinol. Metab., vol. 84, n. 4, 1999, pp. 1414–9, DOI:10.1210/jc.84.4.1414.
- Deladoëy J, Flück C, Büyükgebiz A, et al., "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency., in J. Clin. Endocrinol. Metab., vol. 84, n. 5, 1999, pp. 1645–50, DOI:10.1210/jc.84.5.1645.
- Agarwal G, Bhatia V, Cook S, Thomas PQ, Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion., in J. Clin. Endocrinol. Metab., vol. 85, n. 12, 2001, pp. 4556–61, DOI:10.1210/jc.85.12.4556.
- Vallette-Kasic S, Barlier A, Teinturier C, et al., PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency., in J. Clin. Endocrinol. Metab., vol. 86, n. 9, 2001, pp. 4529–35, DOI:10.1210/jc.86.9.4529.
- Teinturier C, Vallette S, Adamsbaum C, et al., Pseudotumor of the pituitary due to PROP-1 deletion., in J. Pediatr. Endocrinol. Metab., vol. 15, n. 1, 2002, pp. 95–101.
- Crone J, Pfäffle R, Stobbe H, et al., Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects., in Horm. Res., vol. 57, n. 3-4, 2002, pp. 120–6.