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 mesenchymal neural 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. Bibcode:1991Natur.353..861H. doi:10.1038/353861a0. PMID 1682814. S2CID 4312466.
^ 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. PMID 7635047.
^ abChojnowski JL, Masuda K, Trau HA, Thomas K, Capecchi M, Manley NR (October 2014). "Multiple roles for HOXA3 in regulating thymus and parathyroid differentiation and morphogenesis in mouse". Development. 141 (19): 3697–708. doi:10.1242/dev.110833. PMC4197593. PMID 25249461.
^Han L, Witmer PD, Casey E, Valle D, Sukumar S (August 2007). "DNA methylation regulates MicroRNA expression". Cancer Biology & Therapy. 6 (8): 1284–8. doi:10.4161/cbt.6.8.4486. PMID 17660710.
Further readingedit
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. PMID 8646877.
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Manley NR, Capecchi MR (March 1998). "Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands". Developmental Biology. 195 (1): 1–15. doi:10.1006/dbio.1997.8827. PMID 9520319.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
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. PMID 9894676.
Manzanares M, Nardelli J, Gilardi-Hebenstreit P, Marshall H, Giudicelli F, Martínez-Pastor MT, Krumlauf R, Charnay P (February 2002). "Krox20 and kreisler co-operate in the transcriptional control of segmental expression of Hoxb3 in the developing hindbrain". The EMBO Journal. 21 (3): 365–76. doi:10.1093/emboj/21.3.365. PMC125344. PMID 11823429.
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. PMID 11857506.
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. PMID 15782160. S2CID 6135437.
Wissmüller S, Kosian T, Wolf M, Finzsch M, Wegner M (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors". Nucleic Acids Research. 34 (6): 1735–44. doi:10.1093/nar/gkl105. PMC1421504. PMID 16582099.
hoxa3, homeobox, protein, protein, that, humans, encoded, gene, identifiersaliases, hox1, hox1e, homeobox, a3external, idsomim, 142954, 96175, homologene, 40725, genecards, gene, location, human, chromosome, human, band7p15, 2start27, end27, gene, location, mo. Homeobox protein Hox A3 is a protein that in humans is encoded by the HOXA3 gene 5 6 7 HOXA3IdentifiersAliasesHOXA3 HOX1 HOX1E homeobox A3External IDsOMIM 142954 MGI 96175 HomoloGene 40725 GeneCards HOXA3Gene location Human Chr Chromosome 7 human 1 Band7p15 2Start27 106 184 bp 1 End27 152 581 bp 1 Gene location Mouse Chr Chromosome 6 mouse 2 Band6 B3 6 25 4 cMStart52 146 042 bp 2 End52 190 316 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incaput epididymiscorpus epididymisright uterine tubeleft uterine tubeparietal pleurarenal medullatibiavisceral pleuragastric mucosatransverse colonTop expressed inascending aortaaortic valvetunica albuginea of testisthyroid glandrete testisleft lung lobetracheobronchial treetracheaintercostal musclepharynxMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsequence specific DNA binding DNA binding DNA binding transcription factor activity HMG box domain binding protein binding DNA binding transcription factor activity RNA polymerase II specific RNA polymerase II cis regulatory region sequence specific DNA bindingCellular componentnucleoplasm nucleusBiological processembryonic skeletal system morphogenesis glossopharyngeal nerve morphogenesis regulation of transcription DNA templated thymus development transcription DNA templated embryonic skeletal system development multicellular organism development animal organ formation blood vessel remodeling thyroid gland development cartilage development parathyroid gland development angiogenesis positive regulation of cell population proliferation animal organ morphogenesis specification of animal organ position anterior posterior pattern specification regulation of transcription by RNA polymerase II calcium ion transport gene expression magnesium ion homeostasis bone mineralization negative regulation of calcium ion transport phosphate ion homeostasis calcium ion homeostasis positive regulation of receptor binding positive regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez320015400EnsemblENSG00000105997ENSMUSG00000079560UniProtO43365P02831RefSeq mRNA NM 030661NM 153631NM 153632NM 010452RefSeq protein NP 109377NP 705895NP 034582Location UCSC Chr 7 27 11 27 15 MbChr 6 52 15 52 19 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Regulation 3 See also 4 References 5 Further reading 6 External linksFunction editIn 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 mesenchymal neural 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 Regulation editThe HOXA3 gene is repressed by the microRNA miR 10a 11 See also editHomeoboxReferences edit a b c GRCh38 Ensembl release 89 ENSG00000105997 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000079560 Ensembl May 2017 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 McAlpine PJ Shows TB July 1990 Nomenclature for human homeobox genes Genomics 7 3 460 doi 10 1016 0888 7543 90 90186 X PMID 1973146 Scott MP November 1992 Vertebrate homeobox gene nomenclature Cell 71 4 551 3 doi 10 1016 0092 8674 92 90588 4 PMID 1358459 S2CID 13370372 a b Entrez Gene HOXA3 homeobox A3 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 Bibcode 1991Natur 353 861H doi 10 1038 353861a0 PMID 1682814 S2CID 4312466 a b c d Manley 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 PMID 7635047 a b Chojnowski JL Masuda K Trau HA Thomas K Capecchi M Manley NR October 2014 Multiple roles for HOXA3 in regulating thymus and parathyroid differentiation and morphogenesis in mouse Development 141 19 3697 708 doi 10 1242 dev 110833 PMC 4197593 PMID 25249461 Han L Witmer PD Casey E Valle D Sukumar S August 2007 DNA methylation regulates MicroRNA expression Cancer Biology amp Therapy 6 8 1284 8 doi 10 4161 cbt 6 8 4486 PMID 17660710 Further reading editApiou 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 PMID 8646877 Bonaldo MF Lennon G Soares MB September 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Research 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Manley NR Capecchi MR March 1998 Hox group 3 paralogs regulate the development and migration of the thymus thyroid and parathyroid glands Developmental Biology 195 1 1 15 doi 10 1006 dbio 1997 8827 PMID 9520319 Sanger Centre The Washington University Genome Sequencing Cente The November 1998 Toward a complete human genome sequence Genome Research 8 11 1097 108 doi 10 1101 gr 8 11 1097 PMID 9847074 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 lt 263 AID TERA8 gt 3 0 CO 2 A PMID 9894676 Manzanares M Nardelli J Gilardi Hebenstreit P Marshall H Giudicelli F Martinez Pastor MT Krumlauf R Charnay P February 2002 Krox20 and kreisler co operate in the transcriptional control of segmental expression of Hoxb3 in the developing hindbrain The EMBO Journal 21 3 365 76 doi 10 1093 emboj 21 3 365 PMC 125344 PMID 11823429 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 PMID 11857506 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 PMID 15782160 S2CID 6135437 Wissmuller S Kosian T Wolf M Finzsch M Wegner M 2006 The high mobility group domain of Sox proteins interacts with DNA binding domains of many transcription factors Nucleic Acids Research 34 6 1735 44 doi 10 1093 nar gkl105 PMC 1421504 PMID 16582099 External links editHOXA3 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en 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