Twotranscript variants encoding two differentisoforms have been found for this gene, with only one of the isoforms containing thehomeodomain region.[8]
In vertebrates, the genes encoding the class oftranscription factors calledhomeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated duringembryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulategene expression,morphogenesis, andcellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development.[8]
A common polymorphism in the HOXA1 gene is associated with a susceptibility toautism spectrum disorder, with individuals possessing these gene variant have an approximately doubled risk of developing the disorder.[9] Studies onknockout mice have indicated that the gene can alter embryological development of thebrain stem (specifically thefacial andsuperior olivary nuclei), as well as induce several other physical changes such as in ear shape.[10] Both of these sets of changes can also be seen in patients with autism.
^"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.
^Hong YS, Kim SY, Bhattacharya A, Pratt DR, Hong WK, Tainsky MA (July 1995). "Structure and function of the HOX A1 human homeobox gene cDNA".Gene.159 (2):209–14.doi:10.1016/0378-1119(95)92712-G.PMID7622051.
^Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters".Cytogenetics and Cell Genetics.73 (1–2):114–5.doi:10.1159/000134320.PMID8646877.
Barrow JR, Capecchi MR (November 1999). "Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants".Development.126 (22):5011–26.doi:10.1242/dev.126.22.5011.PMID10529419.
Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D, Risch N, Myers RM (January 2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families".American Journal of Medical Genetics.114 (1):24–30.doi:10.1002/ajmg.1618.PMID11840501.
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (February 2002). "Complete mutation analysis panel of the 39 human HOX genes".Teratology.65 (2):50–62.doi:10.1002/tera.10009.PMID11857506.
