Homeobox protein Hox-A1 is a
protein that in humans is encoded by the HOXA1gene.[5][6][7]
Gene
Two
transcript variants encoding two different
isoforms have been found for this gene, with only one of the isoforms containing the
homeodomain region.[8]
Function
In vertebrates, the genes encoding the class of
transcription factors called
homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during
embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate
gene expression,
morphogenesis, and
cellular 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]
Clinical significance
A common polymorphism in the HOXA1 gene is associated with a susceptibility to
autism spectrum disorder, with individuals possessing these gene variant have an approximately doubled risk of developing the disorder.[9] Studies on
knockout mice have indicated that the gene can alter embryological development of the
brain stem (specifically the
facial and
superior 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.
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.
Devlin B, Bennett P, Cook EH, Dawson G, Gonen D, Grigorenko EL, McMahon W, Pauls D, Smith M, Spence MA, Schellenberg GD (August 2002). "No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network". American Journal of Medical Genetics. 114 (6): 667–72.
doi:
10.1002/ajmg.10603.
PMID12210285.
S2CID23795745.