PITX2


PITX2

Paired-like homeodomain transcription factor 2, also known as PITX2, is a human gene.

PBB_Summary
section_title =
summary_text = This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. This protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes. This protein is involved in the development of the eye, tooth and abdominal organs. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Three transcript variants encoding distinct isoforms have been identified for this gene.cite web | title = Entrez Gene: PITX2 paired-like homeodomain transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5308| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Franco D, Campione M |title=The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. |journal=Trends Cardiovasc. Med. |volume=13 |issue= 4 |pages= 157–63 |year= 2003 |pmid= 12732450 |doi=10.1016/S1050-1738(03)00039-2
*cite journal | author=Hjalt TA, Semina EV |title=Current molecular understanding of Axenfeld-Rieger syndrome. |journal=Expert reviews in molecular medicine |volume=7 |issue= 25 |pages= 1–17 |year= 2007 |pmid= 16274491 |doi= 10.1017/S1462399405010082
*cite journal | author=Murray JC, Bennett SR, Kwitek AE, "et al." |title=Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. |journal=Nat. Genet. |volume=2 |issue= 1 |pages= 46–9 |year= 1993 |pmid= 1303248 |doi= 10.1038/ng0992-46
*cite journal | author=Héon E, Sheth BP, Kalenak JW, "et al." |title=Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). |journal=Hum. Mol. Genet. |volume=4 |issue= 8 |pages= 1435–9 |year= 1995 |pmid= 7581385 |doi=10.1093/hmg/4.8.1435
*cite journal | author=Walter MA, Mirzayans F, Mears AJ, "et al." |title=Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. |journal=Ophthalmology |volume=103 |issue= 11 |pages= 1907–15 |year= 1996 |pmid= 8942889 |doi=
*cite journal | author=Semina EV, Reiter R, Leysens NJ, "et al." |title=Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. |journal=Nat. Genet. |volume=14 |issue= 4 |pages= 392–9 |year= 1997 |pmid= 8944018 |doi= 10.1038/ng1296-392
*cite journal | author=Alward WL, Semina EV, Kalenak JW, "et al." |title=Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. |journal=Am. J. Ophthalmol. |volume=125 |issue= 1 |pages= 98–100 |year= 1998 |pmid= 9437321 |doi=10.1016/S0002-9394(99)80242-6
*cite journal | author=Arakawa H, Nakamura T, Zhadanov AB, "et al." |title=Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 8 |pages= 4573–8 |year= 1998 |pmid= 9539779 |doi=10.1073/pnas.95.8.4573
*cite journal | author=Kulak SC, Kozlowski K, Semina EV, "et al." |title=Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1113–7 |year= 1999 |pmid= 9618168 |doi=10.1093/hmg/7.7.1113
*cite journal | author=Amendt BA, Sutherland LB, Semina EV, Russo AF |title=The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20066–72 |year= 1998 |pmid= 9685346 |doi=10.1074/jbc.273.32.20066
*cite journal | author=Yoshioka H, Meno C, Koshiba K, "et al." |title=Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. |journal=Cell |volume=94 |issue= 3 |pages= 299–305 |year= 1998 |pmid= 9708732 |doi=10.1016/S0092-8674(00)81473-7
*cite journal | author=Doward W, Perveen R, Lloyd IC, "et al." |title=A mutation in the RIEG1 gene associated with Peters' anomaly. |journal=J. Med. Genet. |volume=36 |issue= 2 |pages= 152–5 |year= 1999 |pmid= 10051017 |doi=
*cite journal | author=Pellegrini-Bouiller I, Manrique C, Gunz G, "et al." |title=Expression of the members of the Ptx family of transcription factors in human pituitary adenomas. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 6 |pages= 2212–20 |year= 1999 |pmid= 10372733 |doi=10.1210/jc.84.6.2212
*cite journal | author=Hjalt TA, Amendt BA, Murray JC |title=PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome. |journal=J. Cell Biol. |volume=152 |issue= 3 |pages= 545–52 |year= 2001 |pmid= 11157981 |doi=10.1083/jcb.152.3.545
*cite journal | author=Priston M, Kozlowski K, Gill D, "et al." |title=Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1631–8 |year= 2001 |pmid= 11487566 |doi=10.1093/hmg/10.16.1631
*cite journal | author=Green PD, Hjalt TA, Kirk DE, "et al." |title=Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development. |journal=Gene Expr. |volume=9 |issue= 6 |pages= 265–81 |year= 2002 |pmid= 11763998 |doi=
*cite journal | author=Vincent AL, Billingsley G, Buys Y, "et al." |title=Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 448–60 |year= 2002 |pmid= 11774072 |doi=10.1086/338709
*cite journal | author=Borges AS, Susanna R, Carani JC, "et al." |title=Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. |journal=J. Glaucoma |volume=11 |issue= 1 |pages= 51–6 |year= 2002 |pmid= 11821690 |doi=10.1097/00061198-200202000-00010
*cite journal | author=Cox CJ, Espinoza HM, McWilliams B, "et al." |title=Differential regulation of gene expression by PITX2 isoforms. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 25001–10 |year= 2002 |pmid= 11948188 |doi= 10.1074/jbc.M201737200
*cite journal | author=Quentien MH, Pitoia F, Gunz G, "et al." |title=Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants. |journal=Endocrinology |volume=143 |issue= 8 |pages= 2839–51 |year= 2002 |pmid= 12130547 |doi=10.1210/en.143.8.2839

External links

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