From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Homeobox protein Hox-A2 is a
protein that in humans is encoded by the HOXA2
gene .
[5]
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 differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.
[6]
HOXA2 controls the embryonic development of the lower and middle part of the face and of the
middle ear . Mutations in it are known to cause
microtia ,
hearing impairment , and
cleft palate .
See also
References
Further reading
Alasti F, Sadeghi A, Sanati MH, et al. (2008).
"A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family" . Am. J. Hum. Genet . 82 (4): 982–91.
doi :
10.1016/j.ajhg.2008.02.015 .
PMC
2427268 .
PMID
18394579 .
Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology . 65 (2): 50–62.
doi :
10.1002/tera.10009 .
PMID
11857506 .
Scherer SW, Cheung J, MacDonald JR, et al. (2003).
"Human Chromosome 7: DNA Sequence and Biology" . Science . 300 (5620): 767–72.
Bibcode :
2003Sci...300..767S .
doi :
10.1126/science.1083423 .
PMC
2882961 .
PMID
12690205 .
Hillier LW, Fulton RS, Fulton LA, et al. (2003).
"The DNA sequence of human chromosome 7" . Nature . 424 (6945): 157–64.
Bibcode :
2003Natur.424..157H .
doi :
10.1038/nature01782 .
PMID
12853948 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell . 71 (4): 551–3.
doi :
10.1016/0092-8674(92)90588-4 .
PMID
1358459 .
S2CID
13370372 .
Yerges LM, Klei L, Cauley JA, et al. (2009).
"High-Density Association Study of 383 Candidate Genes for Volumetric BMD at the Femoral Neck and Lumbar Spine Among Older Men" . J. Bone Miner. Res . 24 (12): 2039–49.
doi :
10.1359/jbmr.090524 .
PMC
2791518 .
PMID
19453261 .
Apiou F, Flagiello D, Cillo C, et al. (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet . 73 (1–2): 114–5.
doi :
10.1159/000134320 .
PMID
8646877 .
(1) Basic domains
(1.1) Basic
leucine zipper (
bZIP )(1.2) Basic helix-loop-helix (
bHLH )
Group A Group B Group C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(2.1)
Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors