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PITX1[edit]

paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[1][2][3]

Function[edit]

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain protein transcription factors[4]. Members of this family are involved in organ development[citation needed], left-right asymmetry[citation needed] and hindlimb development[5][6]. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.[3] PITX1 is associated with hindlimb development and when inactivated hindlimb development is severely hindered.[6]

Clinical relevance[edit]

Mutations in this gene have been associated with autism[7], club foot[8] and polydactyly[9] in humans.

Genetic Basis of Pathologies[edit]

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.[10] In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus[10]. A missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot[11].

Interactions[edit]

PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.[12]

References[edit]

  1. ^ Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (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.
  2. ^ Shang J, Li X, Ring HZ, Clayton DA, Francke U (Feb 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. ^ a b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
  4. ^ Pellegrini-Bouiller, Isabelle; Manrique, Christine; Gunz, Ginette; Grino, Michel; Zamora, Alfredo J.; Figarella-Branger, Dominique; Grisoli, François; Jaquet, Philippe; Enjalbert, Alain (1999-06). "Expression of the Members of the Ptx Family of Transcription Factors in Human Pituitary Adenomas1". The Journal of Clinical Endocrinology & Metabolism. 84 (6): 2212–2220. doi:10.1210/jcem.84.6.5760. ISSN 0021-972X. PMID 10372733. {{cite journal}}: Check date values in: |date= (help)
  5. ^ Duboc, Veronique; Logan, Malcolm P. O. (2011-12-15). "Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control". Development. 138 (24): 5301–5309. doi:10.1242/dev.074153. ISSN 0950-1991. PMC 3222209. PMID 22071103.
  6. ^ a b Lanctôt, C.; Moreau, A.; Chamberland, M.; Tremblay, M. L.; Drouin, J. (1999-5). "Hindlimb patterning and mandible development require the Ptx1 gene". Development (Cambridge, England). 126 (9): 1805–1810. doi:10.1242/dev.126.9.1805. ISSN 0950-1991. PMID 10101115. {{cite journal}}: Check date values in: |date= (help)
  7. ^ Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, Benajjou A, Fontaine K, Vazart C, Gesnouin P, Brooks P, Hager J (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  8. ^ Alvarado, D. M.; McCall, K.; Aferol, H.; Silva, M. J.; Garbow, J. R.; Spees, W. M.; Patel, T.; Siegel, M.; Dobbs, M. B. (2011-07-20). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular Genetics. 20 (20): 3943–3952. doi:10.1093/hmg/ddr313. ISSN 0964-6906. PMC 3177645. PMID 21775501.
  9. ^ Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I (Jun 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly". European Journal of Human Genetics. 20 (6): 705–8. doi:10.1038/ejhg.2011.264. PMC 3355260. PMID 22258522.
  10. ^ a b Spielmann, Malte; Brancati, Francesco; Krawitz, Peter M.; Robinson, Peter N.; Ibrahim, Daniel M.; Franke, Martin; Hecht, Jochen; Lohan, Silke; Dathe, Katarina; Nardone, Anna Maria; Ferrari, Paola; Landi, Antonio; Wittler, Lars; Timmermann, Bernd; Chan, Danny; Mennen, Ulrich; Klopocki, Eva; Mundlos, Stefan (2012-10-05). "Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus". The American Journal of Human Genetics. 91 (4): 629–635. doi:10.1016/j.ajhg.2012.08.014. ISSN 0002-9297. PMC 3484647. PMID 23022097.
  11. ^ Alvarado, David M.; McCall, Kevin; Aferol, Hyuliya; Silva, Matthew J.; Garbow, Joel R.; Spees, William M.; Patel, Tarpit; Siegel, Marilyn; Dobbs, Matthew B. (2011-10-15). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular Genetics. 20 (20): 3943–3952. doi:10.1093/hmg/ddr313. ISSN 0964-6906. PMC 3177645. PMID 21775501.
  12. ^ Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (Jul 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. Bibcode:1996PNAS...93.7706S. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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