PITX3 explained

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.^{[1] [2]}

Function

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development, and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.^[3]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.

Further reading

• Book: Smits SM, Smidt MP . The role of Pitx3 in survival of midbrain dopaminergic neurons . Parkinson's Disease and Related Disorders . Journal of Neural Transmission. Supplementum . 70 . 70 . 57–60 . 2006 . 17017509 . 10.1007/978-3-211-45295-0_10 . 978-3-211-28927-3 . Journal of Neural Transmission. Supplementa .
• Hittner HM, Kretzer FL, Antoszyk JH, Ferrell RE, Mehta RS . Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations . American Journal of Ophthalmology . 93 . 1 . 57–70 . January 1982 . 6801987 . 10.1016/0002-9394(82)90700-0.
• Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS . Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) . Journal of Medical Genetics . 41 . 8 . e109 . August 2004 . 15286169 . 1735853 . 10.1136/jmg.2004.020289 .
• Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O . Posterior polar cataract: genetic analysis of a large family . Ophthalmic Genetics . 26 . 3 . 125–30 . September 2005 . 16272057 . 10.1080/13816810500229124 . 9519631 .
• Martinat C, Bacci JJ, Leete T, Kim J, Vanti WB, Newman AH, Cha JH, Gether U, Wang H, Abeliovich A . Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype . Proceedings of the National Academy of Sciences of the United States of America . 103 . 8 . 2874–9 . February 2006 . 16477036 . 1413837 . 10.1073/pnas.0511153103 . 2006PNAS..103.2874M . free .
• Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI . Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities . Investigative Ophthalmology & Visual Science . 47 . 4 . 1274–80 . April 2006 . 16565358 . 10.1167/iovs.05-1095 .
• Burdon KP, McKay JD, Wirth MG, Russell-Eggit IM, Bhatti S, Ruddle JB, Dimasi D, Mackey DA, Craig JE . The PITX3 gene in posterior polar congenital cataract in Australia . Molecular Vision . 12 . 367–71 . 2006 . 16636655 .
• Sakazume S, Sorokina E, Iwamoto Y, Semina EV . Functional analysis of human mutations in homeodomain transcription factor PITX3 . BMC Molecular Biology . 8 . 84 . 2007 . 17888164 . 2093940 . 10.1186/1471-2199-8-84 . free .

Notes and References

1. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC . A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD . Nature Genetics . 19 . 2 . 167–70 . June 1998 . 9620774 . 10.1038/527 . 23213513 .
2. Web site: Entrez Gene: PITX3 paired-like homeodomain transcription factor 3.
3. Smidt MP, Smits SM, Bouwmeester H, Hamers FP, van der Linden AJ, Hellemons AJ, Graw J, Burbach JP . Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3 . Development . 131 . 5 . 1145–55 . March 2004 . 14973278 . 10.1242/dev.01022 . 20585228 .