Pax genes
| Paired domain | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CDD | cd00131 | ||||||||
| |||||||||
In
are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.The paired domain was initially described in 1987 as the "paired box" in the Drosophila protein paired (prd; P06601).[3][4]
Groups
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).
Two more families, Pox-neuro and Pax-α/β, exist in basal bilaterian species.
Members
- 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. In the mouse Pax1 mutation has been linked to undulated mutant suffering from skeletal malformations.[9]
- renal-coloboma syndrome as well as oligomeganephronia.[10]
- 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[11] and contributes to tumor cell survival.[12]
- 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. Knockout mice lacking Pax4 expression fail to develop insulin-producing cells.[13] Pax4 undergoes mutual reciprocal interaction with the transcription factor Arx to endow pancreatic endocrine cells with insulin and glucagon cells respectively[14]
- 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.[15]
- satellite cells but not for the specification.[16]
- PAX8 has been associated with thyroid specific expression. It transcribes a protein of 451 amino acids from 11 exons and 2,526bps in humans. Pax8 loss-of-function mutant mice lack follicular cells of the thyroid gland.[17]
- 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.
See also
References
- PMID 11750700.
- PMID 10811620.
- S2CID 21943167.
- PMID 3123319.
- PMID 28253300.
- S2CID 205095304.
- PMID 10461206.
- PMID 23359656.
- ^ Balling et al., 1988
- ^ Online Mendelian Inheritance in Man (OMIM): 167409
- PMID 20421967.
- PMID 11221862.
- ^ Sosa-Pineda et al., 1997
- ^ Collombat et al, 2003
- ^ Walter and Gruss, 1991
- PMID 15282552.
- ^ Mansouri et al.,1998
[1]==Further reading==
External links
- A Review of the Highly Conserved PAX6 Gene in Eye Development Regulation
- Paired domain[permanent dead link] in PROSITE
- Pax+Transcription+Factors at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ^ Mansouri A et al. 1996