PITX1
paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[1][2][3]
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. According to an October 2008 press release by the Washington University School of Medicine, the gene is the first gene thought to be involved with clubfoot. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.[3]
Clinical relevance
Mutations in this gene have been associated with autism[4] and polydactyly[5] in humans.
Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome
Interactions
PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.[6]
References
- ↑ Crawford MJ, Lanctôt C, Tremblay JJ et al. (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome 8 (11): 841–5. doi:10.1007/s003359900589. PMID 9337397.
- ↑ Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.
- ↑ 3.0 3.1 "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
- ↑ Philippi A, Tores F, Carayol J et al. (2007). "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis". BMC Medical Genetics 8: 74. doi:10.1186/1471-2350-8-74. PMC 2222245. PMID 18053270.
- ↑ Klopocki, E; Kähler, C, Foulds, N, Shah, H, Joseph, B, Vogel, H, Lüttgen, S, Bald, R, Besoke, R, Held, K, Mundlos, S, Kurth, I (Jan 18, 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.". European journal of human genetics : EJHG 20 (6): 705–8. doi:10.1038/ejhg.2011.264. PMID 22258522.
- ↑ Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (July 1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development". Proceedings of the National Academy of Sciences of the United States of America 93 (15): 7706–10. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.
Further reading
- Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development.". Proc. Natl. Acad. Sci. U.S.A. 93 (15): 7706–10. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.
- Shang J, Luo Y, Clayton DA (1997). "Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb.". Dev. Dyn. 209 (2): 242–53. doi:10.1002/(SICI)1097-0177(199706)209:2<242::AID-AJA10>3.0.CO;2-0. PMID 9186059.
- Poulin G, Turgeon B, Drouin J (1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene.". Mol. Cell. Biol. 17 (11): 6673–82. PMC 232521. PMID 9343431.
- Tremblay JJ, Drouin J (1999). "Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription.". Mol. Cell. Biol. 19 (4): 2567–76. PMC 84049. PMID 10082522.
- Tremblay JJ, Marcil A, Gauthier Y, Drouin J (1999). "Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain.". EMBO J. 18 (12): 3431–41. doi:10.1093/emboj/18.12.3431. PMC 1171422. PMID 10369682.
- Pellegrini-Bouiller I, Manrique C, Gunz G et al. (1999). "Expression of the members of the Ptx family of transcription factors in human pituitary adenomas.". J. Clin. Endocrinol. Metab. 84 (6): 2212–20. doi:10.1210/jc.84.6.2212. PMID 10372733.
- Tahara S, Kurotani R, Sanno N et al. (2001). "Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas.". Mod. Pathol. 13 (10): 1097–108. doi:10.1038/modpathol.3880204. PMID 11048804.
- Quentien MH, Manfroid I, Moncet D et al. (2003). "Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.". J. Biol. Chem. 277 (46): 44408–16. doi:10.1074/jbc.M207824200. PMID 12223489.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ghosh AK, Majumder M, Steele R et al. (2003). "Modulation of interferon expression by hepatitis C virus NS5A protein and human homeodomain protein PTX1.". Virology 306 (1): 51–9. doi:10.1016/S0042-6822(02)00029-6. PMID 12620797.
- Hiroi N, Kino T, Bassett M et al. (2004). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase.". Horm. Metab. Res. 35 (5): 273–8. doi:10.1055/s-2003-41301. PMID 12915995.
- Schmutz J, Martin J, Terry A et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74. doi:10.1038/nature02919. PMID 15372022.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Kolfschoten IG, van Leeuwen B, Berns K et al. (2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity.". Cell 121 (6): 849–58. doi:10.1016/j.cell.2005.04.017. PMID 15960973.
- Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Lord RV, Brabender J, Wickramasinghe K et al. (2006). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma.". Surgery 138 (5): 924–31. doi:10.1016/j.surg.2005.05.007. PMID 16291394.
- Olsen JV, Blagoev B, Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Picard C, Azeddine B, Moldovan F et al. (2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis.". Clin. Orthop. Relat. Res. 462: 59–66. doi:10.1097/BLO.0b013e3180d09d9c. PMID 17549029.
- Qi DL, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, Ohshiro E, Seko T, Aoki S, Oshimura M, Kugoh H (Feb 7, 2011). "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Mol Cell Biol 31 (8): 1624–1636. doi:10.1128/MCB.00470-10. PMC 3126332. PMID 21300782.
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External links
- PITX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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