This gene appears to influence the development in humans of the forebrain. It is also present in mice andxenopus frogs, which suggests a long evolutionary history, and in those organisms its expression is confined to the forebrain, optic and olfactory areas.[8]
VAX1 gene is atranscription factor that has ahomeodomain located in the 100-159 amino acid position and an Ala–rich region located in 216-253 amino acid position of the gene. Expression studies in mice show that it is expressed in thepalate,coloboma in the visual system, and the basaltelencephalon, optic stalk, and visual eye fields where it is expressed along with theShh andBmp4 genes.[8][9][10]
Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations includingcleft palate.[11]
Genome Wide Association Studies (GWAS) reported significant associations betweennon-syndromic clefts andSNPs in the VAX1 gene.[12][13] Replication studies have confirmed these associations in different population groups[14][15]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Hallonet M, Hollemann T, Wehr R, Jenkins NA, Copeland NG, Pieler T, Gruss P (Aug 1998). "Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain".Development.125 (14):2599–610.doi:10.1242/dev.125.14.2599.hdl:11858/00-001M-0000-0012-FCE1-A.PMID9636075.
^abHallonet M, Hollemann T, Wehr R, Jenkins NA, Copeland NG, Pieler T, Gruss P (July 1998). "Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain".Development.125 (14):2599–610.doi:10.1242/dev.125.14.2599.hdl:11858/00-001M-0000-0012-FCE1-A.PMID9636075.
^Nikopensius T, Birnbaum S, Ludwig KU, et al. (June 2010). "Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients".Eur. J. Oral Sci.118 (3):317–9.doi:10.1111/j.1600-0722.2010.00741.x.PMID20572868.
^Rojas-Martinez A, Reutter H, Chacon-Camacho O, et al. (July 2010). "Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25".Birth Defects Res. A.88 (7):535–7.doi:10.1002/bdra.20689.PMID20564431.
