HOXA1
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| Homeobox A1 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | HOXA1 ; BSAS; HOX1; HOX1F; MGC45232 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 4032 | ||||||||||
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| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Homeobox A1, also known as HOXA1, is a human gene.[1]
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.[1]
See also
References
Further reading
- McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. PMID 1973146.
- Chariot A, Moreau L, Senterre G; et al. (1995). "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells". Biochem. Biophys. Res. Commun. 215 (2): 713–20. doi:10.1006/bbrc.1995.2522. PMID 7488013.
- Hong YS, Kim SY, Bhattacharya A; et al. (1995). "Structure and function of the HOX A1 human homeobox gene cDNA". Gene. 159 (2): 209–14. PMID 7622051.
- Apiou F, Flagiello D, Cillo C; et al. (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet. 73 (1–2): 114–5. PMID 8646877.
- Studer M, Gavalas A, Marshall H; et al. (1998). "Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning". Development. 125 (6): 1025–36. PMID 9463349.
- Green NC, Rambaldi I, Teakles J, Featherstone MS (1998). "A conserved C-terminal domain in PBX increases DNA binding by the PBX homeodomain and is not a primary site of contact for the YPWM motif of HOXA1". J. Biol. Chem. 273 (21): 13273–9. PMID 9582372.
- Barrow JR, Capecchi MR (1999). "Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants". Development. 126 (22): 5011–26. PMID 10529419.
- Calvo R, West J, Franklin W; et al. (2001). "Altered HOX and WNT7A expression in human lung cancer". Proc. Natl. Acad. Sci. U.S.A. 97 (23): 12776–81. doi:10.1073/pnas.97.23.12776. PMID 11070089.
- Ingram JL, Stodgell CJ, Hyman SL; et al. (2001). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.
- Li J, Tabor HK, Nguyen L; et al. (2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families". Am. J. Med. Genet. 114 (1): 24–30. PMID 11840501.
- 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.
- Devlin B, Bennett P, Cook EH; et al. (2003). "No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network". Am. J. Med. Genet. 114 (6): 667–72. doi:10.1002/ajmg.10603. PMID 12210285.
- Rodier PM (2003). "Converging evidence for brain stem injury in autism". Dev. Psychopathol. 14 (3): 537–57. PMID 12349873.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- Zhang X, Zhu T, Chen Y; et al. (2003). "Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene". J. Biol. Chem. 278 (9): 7580–90. doi:10.1074/jbc.M212050200. PMID 12482855.
- Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
- Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Conciatori M, Stodgell CJ, Hyman SL; et al. (2004). "Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism". Biol. Psychiatry. 55 (4): 413–9. doi:10.1016/j.biopsych.2003.10.005. PMID 14960295.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Tischfield MA, Bosley TM, Salih MA; et al. (2005). "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development". Nat. Genet. 37 (10): 1035–7. doi:10.1038/ng1636. PMID 16155570.
External links
- HOXA1+protein,+human at the US 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.
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