Homeobox protein Hox-A3 is a
protein that in humans is encoded by the HOXA3gene.[5][6][7]
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. Three transcript variants encoding two different isoforms have been found for this gene.[7]
During normal
fetal development, HoxA3 is expressed in
mesenchymalneural crest cells and
endodermal cells found in the
third pharyngeal pouch.[8] Expression of HoxA3 in these cells affects the proper formation of the
thymus,
thyroid, and
parathyroid organs.[9][10] While the gene does not seem to affect the proliferation or migration of the pharyngeal neural crest cells, it does appear to trigger
cellular differentiation events required to form these organs.[9] Knockout of HoxA3 leads to failure in forming the thymus (
athymia) and parathyroid gland (aparthyroidism).[10] Mutant HoxA3 also causes a reduction in thyroid size. While the
follicular and
parafollicular cells still differentiate, their numbers are reduced and they are not evenly distributed throughout the gland.[9] Mutant HoxA3 models show similar
phenotypes as those seen in
DiGeorge's syndrome, and it is possible that the two are linked.[9]
^Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, Boncinelli E, Krumlauf R (October 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature. 353 (6347): 861–4.
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^
abcdManley NR, Capecchi MR (July 1995). "The role of Hoxa-3 in mouse thymus and thyroid development". Development. 121 (7): 1989–2003.
doi:
10.1242/dev.121.7.1989.
PMID7635047.
Mulder GB, Manley N, Maggio-Price L (December 1998). "Retinoic acid-induced thymic abnormalities in the mouse are associated with altered pharyngeal morphology, thymocyte maturation defects, and altered expression of Hoxa3 and Pax1". Teratology. 58 (6): 263–75.
doi:
10.1002/(SICI)1096-9926(199812)58:6<263::AID-TERA8>3.0.CO;2-A.
PMID9894676.
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.
Kim J, Bhinge AA, Morgan XC, Iyer VR (January 2005). "Mapping DNA-protein interactions in large genomes by sequence tag analysis of genomic enrichment". Nature Methods. 2 (1): 47–53.
doi:
10.1038/nmeth726.
PMID15782160.
S2CID6135437.