Pituitary-specific positive transcription factor 1 explained
POU class 1 homeobox 1, also known as pituitary-specific positive transcription factor 1 (PIT1), POU domain, class 1, transcription factor 1 (POU1F1) and growth hormone factor 1 (GHF1), is a transcription factor for growth hormone encoded by the gene POU1F1.[1] [2]
Function
PIT1 is part of the POU family of transcription factors.[3] It is expressed by somatotrophic cells,[4] as well as thyrotrophs[5] and lactotrophs[6] of the anterior pituitary gland. It contains a C-terminal domain for transactivation.[5] Another domain is DNA binding—its C-terminal portion is homologous to the homeodomain consensus,[4] common to many genes involved in development, while the other portion is POU specific, affords PIT1 specificity in its transcriptional activation of the prolactin and growth hormone genes and is involved in protein-protein interactions.[5] Activity on thyroid stimulating hormone-beta expression is also known for PIT1.[5]
Interactions
Pituitary-specific positive transcription factor 1 has been shown to interact with GATA2[7] and PITX1.[8]
Further reading
- Parks JS, Brown MR . Transcription factors regulating pituitary development . Growth Horm. IGF Res. . 9 Suppl B . 2–8; discussion 8–11 . 1999 . 10549299 . 10.1016/S1096-6374(99)80074-4 .
- 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 . Minerva Endocrinol. . 28 . 2 . 123–33 . 2003 . 12717343 .
- Quentien MH, Barlier A, Franc JL, Pellegrini I, Brue T, Enjalbert A . Pituitary transcription factors: from congenital deficiencies to gene therapy . J. Neuroendocrinol. . 18 . 9 . 633–42 . 2006 . 16879162 . 10.1111/j.1365-2826.2006.01461.x . 21835164 .
- Cattini PA, Yang X, Jin Y, Detillieux KA . Regulation of the human growth hormone gene family: possible role for Pit-1 in early stages of pituitary-specific expression and repression . Neuroendocrinology . 83 . 3–4 . 145–53 . 2006 . 17047377 . 10.1159/000095522 . 34757447 .
- Li X, Giachelli CM . Sodium-dependent phosphate cotransporters and vascular calcification . Curr. Opin. Nephrol. Hypertens. . 16 . 4 . 325–8 . 2007 . 17565274 . 10.1097/MNH.0b013e3281c55ef1 . 25963053 .
- Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H . Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene . Nat. Genet. . 1 . 1 . 56–8 . 1993 . 1302000 . 10.1038/ng0492-56 . 36138691 .
- Tatsumi K, Notomi T, Amino N, Miyai K . Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1 . Biochim. Biophys. Acta . 1129 . 2 . 231–4 . 1992 . 1370379 . 10.1016/0167-4781(92)90494-k .
- Ohta K, Nobukuni Y, Mitsubuchi H, Fujimoto S, Matsuo N, Inagaki H, Endo F, Matsuda I . Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency . Biochem. Biophys. Res. Commun. . 189 . 2 . 851–5 . 1993 . 1472057 . 10.1016/0006-291X(92)92281-2 .
- Ohta K, Nobukuni Y, Mitsubuchi H, Ohta T, Tohma T, Jinno Y, Endo F, Matsuda I . Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1 . Gene . 122 . 2 . 387–8 . 1993 . 1487156 . 10.1016/0378-1119(92)90234-G .
- Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE . A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency . Science . 257 . 5073 . 1115–8 . 1992 . 1509262 . 10.1126/science.257.5073.1115 . 1992Sci...257.1115R . 33620091 .
- Pfäffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG, Ingraham HA . Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia . Science . 257 . 5073 . 1118–21 . 1992 . 1509263 . 10.1126/science.257.5073.1118 . 1992Sci...257.1118P . 32400112 .
- Lew AM, Elsholtz HP . Cloning of the human cDNA for transcription factor Pit-1 . Nucleic Acids Res. . 19 . 22 . 6329 . 1991 . 1956794 . 329149 . 10.1093/nar/19.22.6329 .
- He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG . Expression of a large family of POU-domain regulatory genes in mammalian brain development . Nature . 340 . 6228 . 35–41 . 1989 . 2739723 . 10.1038/340035a0 . 1989Natur.340...35H . 4275887 .
- Herr W, Sturm RA, Clerc RG, Corcoran LM, Baltimore D, Sharp PA, Ingraham HA, Rosenfeld MG, Finney M, Ruvkun G . The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products . Genes Dev. . 2 . 12A . 1513–6 . 1989 . 3215510 . 10.1101/gad.2.12a.1513 . free .
- de Zegher F, Pernasetti F, Vanhole C, Devlieger H, Van den Berghe G, Martial JA . The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency . J. Clin. Endocrinol. Metab. . 80 . 11 . 3127–30 . 1995 . 10.1210/jcem.80.11.7593413 . 7593413 .
- Bamberger AM, Bamberger CM, Pu LP, Puy LA, Loh YP, Asa SL . Expression of pit-1 messenger ribonucleic acid and protein in the human placenta . J. Clin. Endocrinol. Metab. . 80 . 7 . 2021–6 . 1995 . 10.1210/jcem.80.7.7608249 . 7608249 .
- Irie Y, Tatsumi K, Ogawa M, Kamijo T, Preeyasombat C, Suprasongsin C, Amino N . A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency . Endocr. J. . 42 . 3 . 351–4 . 1995 . 7670563 . 10.1507/endocrj.42.351 . free .
- Delhase M, Vila V, Hooghe-Peters EL, Castrillo JL . A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene . Gene . 155 . 2 . 273–5 . 1995 . 7721104 . 10.1016/0378-1119(94)00757-J .
- Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H, Hayashi A, Tatsumi K . Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype . Hum. Mol. Genet. . 3 . 9 . 1565–8 . 1995 . 7833912 . 10.1093/hmg/3.9.1565 .
Notes and References
- Web site: Entrez Gene: POU1F1 POU class 1 homeobox 1 [Homo sapiens (human) ] ]. 23 November 2023. 2 January 2024. National Library of Medicine, National Center for Biotechnology Information.
- Web site: Symbol report for POU1F1. HGNC. HUGO Gene Nomenclature Committee. 2 January 2024. 2023.
- Web site: POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1. Online Mendelian Inheritance in Man. O'Neill. Marla J.F.. Originally authored by Victor A. McKusick on 13 January 1989. 22 September 2021. 3 January 2024.
- Bodner M, Castrillo JL, Theill LE, Deerinck T, Ellisman M, Karin M . The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein . Cell . 55 . 3 . 505–518 . 1988 . 2902927 . 10.1016/0092-8674(88)90037-2 . 26376487 .
- Vallette-Kasic S, Pellegrini-Bouiller I, Sampieri F, Gunz G, Diaz A, Radovic S, Enjalbert A, Brue T. 2001. 15. 3. Molecular Endocrinology. Combined Pituitary Hormone Deficiency due to the F135C Human Pit-1 (Pituitary-Specific Factor 1) Gene Mutation: Functional and Structural Correlates. 411–420. 10.1210/mend.15.3.0601. free. 11222742.
- Cohen LE, Wondisford FE, Radovick S. Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin. Endocrinology and Metabolism Clinics of North America. 25. 3. 523–540. 10.1016/s0889-8529(05)70339-x. 8879985. 1996.
- Dasen JS, O'Connell SM, Flynn SE, Treier M, Gleiberman AS, Szeto DP, Hooshmand F, Aggarwal AK, Rosenfeld MG . Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types . Cell . 97 . 5 . 587–98 . May 1999 . 10367888 . 10.1016/S0092-8674(00)80770-9 . 15737684 . free .
- Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG . P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development . . 93 . 15 . 7706–10 . July 1996 . 8755540 . 38811 . 10.1073/pnas.93.15.7706 . 1996PNAS...93.7706S . free .