PROP-1
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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 ormone luteinizzante (LH; MIM 152780, ormone follicolo-stimolante (FSH; MIM 136530), ormone della crescita (GH; MIM 139250), prolattina (PRL; MIM 176760) e ormone tireostimolante (TSH; MIM 188540). (CPHD; MIM 262600).[supplied by OMIM][2]
Note[modifica | modifica wikitesto]
- ^ 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, febbraio 1998, pp. 147–9, DOI:10.1038/ng0298-147, PMID 9462743.
- ^ a b Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor, su ncbi.nlm.nih.gov.
Bibliografia[modifica | modifica wikitesto]
- 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, PMID 10946881.
- 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, PMID 11283314.
- 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, PMID 12464226.
- 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, PMID 12717343.
- 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, PMID 9661653.
- 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, PMID 9685346.
- 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, PMID 9745452.
- 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, PMID 9768691.
- 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, PMID 9824293.
- 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, PMID 9920061.
- 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, PMID 10084575.
- 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, PMID 10199788.
- 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, PMID 10323394.
- 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, PMID 11134108.
- 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, PMID 11549703.
- 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, PMID 11822586.
- 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, PMID 12006708.
Collegamenti[modifica | modifica wikitesto]
- GeneReviews/NCBI/NIH/UW entry on PROP1- Related Combined Pituitary Hormone Deficiency (CPHD), su ncbi.nlm.nih.gov.
- (EN) PROP1 protein, human, in Medical Subject Headings (MeSH), National Library of Medicine, 2009.
