Pax Genes: Evolution and Function

Maxime Bouchard, Research Institute of Molecular Pathology, Vienna, Austria
Alexander Schleiffer, Research Institute of Molecular Pathology, Vienna, Austria
Frank Eisenhaber, Research Institute of Molecular Pathology, Vienna, Austria
Meinrad Busslinger, Research Institute of Molecular Pathology, Vienna, Austria

Published online: May 2008

DOI: 10.1002/9780470015902.a0005114.pub2

The transcription factors of the Pax protein family have been conserved throughout metazoan evolution and play essential roles in brain development and organogenesis. Loss-of-function and gain-of-function mutations in PAX genes cause inherited disease syndromes and tumor formation respectively.

Keywords: Pax; transcription factor; paired domain; gene duplications; brain development; organogenesis; haploinsufficiency; inherited disease; tumorigenesis

Figure 1. Structure and classification of mammalian Pax proteins. The different domains of Pax proteins are indicated. The consensus sequence of the conserved octapeptide (OP) is (Y/H)SI(N/D/S)GILG. PD: paired domain; HD: homeodomain; TAD: transactivation domain; PST: proline–serine–threonine.
Figure 2. Structure and evolution of the paired domain. (a) Sequence conservation of the paired domain, the structure of which indicates the positions of helices and sheets. The paired domain sequences are shown without the additional amino acids that can be inserted by alternative splicing to modify the DNA-binding function of Pax proteins. GenBank protein accession numbers: human (hu) Pax1 (P15863), Pax2 (Q02962), Pax3 (14250714), Pax4 (O43316), Pax5 (Q02548), Pax6 (383296), Pax7 (P23759), Pax8 (Q06710), Pax9 (AAH01159); amphioxus (am) Branchiostoma floridae Pax19 (644847), Pax258 (3025752), Pax37 (9621907), Pax46 (3204114); cnidarian (cn) Acropora millepora PaxA (AAC15713), PaxB (AAF64460), PaxC (AAC15711), PaxD (AAF64461), and Caenorhabditis elegans (ce) Tc1 transposase (17510681). The cephalochordate amphioxus is considered to be at the phylogenetic base of vertebrates. (b) Phylogenetic tree based on the sequence alignment shown in (a). (c) The consensus recognition sequence of the Pax6 paired domain is shown together with the three-dimensional structure of the Pax6 paired domain–DNA complex (Xu et al., 1999).
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 References
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 Further Reading
    Chow RL, Altmann CR, Lang RA and Hemmati-Brivanlou A (1999) Pax6 induces ectopic eyes in a vertebrate. Development 126: 4213–4222.
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 Web Links
    ePath forkhead box O1A (rhabdomyosarcoma)(FOXO1A); LocusID: 2308. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2308
    ePath forkhead box O1A (rhabdomyosarcoma)(FOXO1A); MIM number: 136533. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?136533
    ePath paired box gene 6 (aniridia, keratitis)(PAX6); LocusID: 5080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5080
    ePath paired box gene 6 (aniridia, keratitis)(PAX6); MIM number: 106210. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?106210

Related Sub-Topics:

Development of Vertebrate Nervous System | Developmental Disorders | Development of Invertebrate Nervous System | Organogenesis | Evolution and Development | Macroevolution | Evolutionary Processes
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Article Title: Pax Genes: Evolution and Function
 
How to Cite close
Bouchard, Maxime, Schleiffer, Alexander, Eisenhaber, Frank, and Busslinger, Meinrad(May 2008) Pax Genes: Evolution and Function. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005114.pub2]