Paired box (Pax) genes are a family of genes coding for tissue specific transcription factors containing a paired domain and usually a partial, or in the case of four family members (PAX3, PAX4, PAX6 and PAX7), a complete homeodomain. An octapeptide may also be present. Pax proteins are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.
Within the mammalian family, there are four well defined groups of Pax genes.
- Pax group 1 (Pax 1 and 9),
- Pax group 2 (Pax 2, 5 and 8),
- Pax group 3 (Pax 3 and 7) and
- Pax group 4 (Pax 4 and 6).
- PAX1 has been identified in mice with the development of vertebrate and embryo segmentation, and some evidence this is also true in humans. It transcribes a 440 amino acid protein from 4 exons and 1,323bps in humans.
- PAX2 has been identified with kidney and optic nerve development. It transcribes a 417 amino acid protein from 11 exons and 4,261 bps in humans. Mutation of PAX2 in humans has been associated with renal-coloboma syndrome as well as oligomeganephronia.
- PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans. Mutations in it can cause Waardenburg syndrome. PAX3 is frequently expressed in melanomas and contributes to tumor cell survival.
- PAX4 has been identified with pancreatic islet beta cells. It transcribes a 350 amino acid protein from 9 exons and 2,010 bps in humans.
- PAX5 has been identified with neural and spermatogenesis development and b-cell differentiation. It transcribes a 391 amino acid protein from 10 exons and 3,644bps in humans.
- PAX6 (eyeless) is the most researched and appears throughout the literature as a "master control" gene for the development of eyes and sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues.
- PAX7 has been possibly associated with myogenesis. It transcribes a protein of 520 amino acids from 8 exons and 2,260bps in humans. PAX7 directs postnatal renewal and propagation of myogenic satellite cells but not for the specification.
- PAX8 has been associated with thyroid specific expression. It transcribes a protein of 451 amino acids from 11 exons and 2,526bps in humans.
- PAX9 has found to be associated with a number of organ and other skeletal developments, particularly teeth. It transcribes a protein of 341 amino acids from 4 exons and 1,644bps in humans.
- Chi, N; Epstein, JA (January 2002). "Getting your Pax straight: Pax proteins in development and disease.". Trends in genetics : TIG. 18 (1): 41–7. doi:10.1016/s0168-9525(01)02594-x. PMID 11750700.
- Online Mendelian Inheritance in Man (OMIM) 167409
- Medic S, Ziman M (April 2010). Soyer, H. Peter, ed. "PAX3 Expression in Normal Skin Melanocytes and Melanocytic Lesions (Naevi and Melanomas)". PLoS ONE. 5 (4): e9977. doi:10.1371/journal.pone.0009977. PMC 2858648. PMID 20421967.
- Scholl FA, Kamarashev J, Murmann OV, Geertsen R, Dummer R, Schäfer BW (Feb 2001). "PAX3 is expressed in human melanomas and contributes to tumor cell survival". Cancer Res. 61 (3): 823–6. PMID 11221862.
- Oustanina, S; et al. (2004). "PAX7 directs postnatal renewal and propagation of myogenic satellite cells but not their specification". The EMBO Journal. 23: 3430–3439. doi:10.1038/sj.emboj.7600346.
- Zuker, Charles S. (August 1994). "On the evolution of eyes: would you like it simple or compound?". Science. 265 (5173): 742–3. doi:10.1126/science.8047881. PMID 8047881.
- Quiring, Rebecca; Walldorf, Uwe; Kloter U; Gehring WJ (August 1994). "Homology of the eyeless gene of Drosophila to the small eye gene in mice and Aniridia in humans.". Science. 265 (5173): 785–9. doi:10.1126/science.7914031. PMID 7914031.
- A Review of the Highly Conserved PAX6 Gene in Eye Development Regulation
- Paired domain in PROSITE
- Pax Transcription Factors at the US National Library of Medicine Medical Subject Headings (MeSH)