From Wikipedia, the free encyclopedia
Human gene
Homeobox protein prophet of
PIT-1 is a
protein that in humans is encoded by the PROP1
gene .
[5]
[6]
PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600).[supplied by OMIM]
[6]
References
^
a
b
c
ENSG00000175325, ENSG00000274382 GRCh38: Ensembl release 89: ENSG00000280635, ENSG00000175325, ENSG00000274382 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000044542 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA III, Rosenfeld MG (Feb 1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat Genet . 18 (2): 147–9.
doi :
10.1038/ng0298-147 .
PMID
9462743 .
S2CID
6882625 .
^
a
b
"Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor" .
Further reading
Osorio MG, Kopp P, Marui S, et al. (2000).
"Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1" . J. Clin. Endocrinol. Metab . 85 (8): 2779–85.
doi :
10.1210/jcem.85.8.6744 .
PMID
10946881 .
Dasen JS, Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci . 24 (1): 327–55.
doi :
10.1146/annurev.neuro.24.1.327 .
PMID
11283314 .
S2CID
19902876 .
Mody S, Brown MR, Parks JS (2003). "The spectrum of hypopituitarism caused by PROP1 mutations". Best Pract. Res. Clin. Endocrinol. Metab . 16 (3): 421–31.
doi :
10.1053/beem.2002.0218 .
PMID
12464226 .
Rodriguez R, Andersen B (2003). "Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency". Minerva Endocrinol . 28 (2): 123–33.
PMID
12717343 .
Fofanova O, Takamura N, Kinoshita E, et al. (1998).
"Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency" . J. Clin. Endocrinol. Metab . 83 (7): 2601–4.
doi :
10.1210/jcem.83.7.5094 .
PMID
9661653 .
Amendt BA, Sutherland LB, Semina EV, Russo AF (1998).
"The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities" . J. Biol. Chem . 273 (32): 20066–72.
doi :
10.1074/jbc.273.32.20066 .
PMID
9685346 .
Cogan JD, Wu W, Phillips JA, et al. (1998).
"The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency" (PDF) . J. Clin. Endocrinol. Metab . 83 (9): 3346–9.
doi :
10.1210/jcem.83.9.5142 .
hdl :
10400.17/2282 .
PMID
9745452 .
Flück C, Deladoey J, Rutishauser K, et al. (1998).
"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)" . J. Clin. Endocrinol. Metab . 83 (10): 3727–34.
doi :
10.1210/jcem.83.10.5172 .
PMID
9768691 .
S2CID
10386868 .
Duquesnoy P, Roy A, Dastot F, et al. (1998).
"Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency" . FEBS Lett . 437 (3): 216–20.
doi :
10.1016/S0014-5793(98)01234-4 .
PMID
9824293 .
S2CID
20169741 .
Rosenbloom AL, Almonte AS, Brown MR, et al. (1999).
"Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene" . J. Clin. Endocrinol. Metab . 84 (1): 50–7.
doi :
10.1210/jcem.84.1.5366 .
PMID
9920061 .
S2CID
35502053 .
Mendonca BB, Osorio MG, Latronico AC, et al. (1999).
"Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene" . J. Clin. Endocrinol. Metab . 84 (3): 942–5.
doi :
10.1210/jcem.84.3.5537 .
PMID
10084575 .
S2CID
22748592 .
Nakamura Y, Usui T, Mizuta H, et al. (1999).
"Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans" . J. Clin. Endocrinol. Metab . 84 (4): 1414–9.
doi :
10.1210/jcem.84.4.5630 .
PMID
10199788 .
Deladoëy J, Flück C, Büyükgebiz A, et al. (1999).
" "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency" . J. Clin. Endocrinol. Metab . 84 (5): 1645–50.
doi :
10.1210/jcem.84.5.5681 .
PMID
10323394 .
S2CID
2891639 .
Agarwal G, Bhatia V, Cook S, Thomas PQ (2001).
"Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion" . J. Clin. Endocrinol. Metab . 85 (12): 4556–61.
doi :
10.1210/jcem.85.12.7013 .
PMID
11134108 .
Vallette-Kasic S, Barlier A, Teinturier C, et al. (2001).
"PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency" . J. Clin. Endocrinol. Metab . 86 (9): 4529–35.
doi :
10.1210/jcem.86.9.7811 .
PMID
11549703 .
Teinturier C, Vallette S, Adamsbaum C, et al. (2002). "Pseudotumor of the pituitary due to PROP-1 deletion". J. Pediatr. Endocrinol. Metab . 15 (1): 95–101.
doi :
10.1515/jpem.2002.15.1.95 .
PMID
11822586 .
S2CID
9184549 .
Crone J, Pfäffle R, Stobbe H, et al. (2002). "Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects". Horm. Res . 57 (3–4): 120–6.
doi :
10.1159/000057962 .
PMID
12006708 .
S2CID
8619602 .
External links
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .
(1) Basic domains
(1.1) Basic
leucine zipper (
bZIP )(1.2) Basic helix-loop-helix (
bHLH )
Group A Group B Group C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(2.1)
Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors