Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[1][2][3]
Contents
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.[3]
Clinical significance
Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[4]
See also
References
- ^ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- ^ Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
- ^ a b "Entrez Gene: HOXA13 homeobox A13".
- ^ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle.
Further reading
- Goodman FR, Scambler PJ (2001). "Human HOX gene mutations.". Clin. Genet. 59 (1): 1–11. doi:10.1034/j.1399-0004.2001.590101.x. PMID 11206481.
- Utsch B, Becker K, Brock D et al. (2002). "A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?". Hum. Genet. 110 (5): 488–94. doi:10.1007/s00439-002-0712-8. PMID 12073020.
- Acampora D, D'Esposito M, Faiella A et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
- 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.
- Mortlock DP, Innis JW (1997). "Mutation of HOXA13 in hand-foot-genital syndrome". Nat. Genet. 15 (2): 179–80. doi:10.1038/ng0297-179. PMID 9020844.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Post LC, Innis JW (1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biol. Reprod. 61 (6): 1402–8. doi:10.1095/biolreprod61.6.1402. PMID 10569982.
- de Stanchina E, Gabellini D, Norio P et al. (2000). "Selection of homeotic proteins for binding to a human DNA replication origin". J. Mol. Biol. 299 (3): 667–80. doi:10.1006/jmbi.2000.3782. PMID 10835276.
- Goodman FR, Bacchelli C, Brady AF et al. (2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". Am. J. Hum. Genet. 67 (1): 197–202. doi:10.1086/302961. PMC 1287077. PMID 10839976.
- Zhao Y, Potter SS (2001). "Functional specificity of the Hoxa13 homeobox". Development 128 (16): 3197–207. PMID 11688568.
- Fujino T, Suzuki A, Ito Y et al. (2002). "Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)". Blood 99 (4): 1428–33. doi:10.1182/blood.V99.4.1428. PMID 11830496.
- 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.
- Innis JW, Goodman FR, Bacchelli C et al. (2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome". Hum. Mutat. 19 (5): 573–4. doi:10.1002/humu.9036. PMID 11968094.
- Taketani T, Taki T, Ono R et al. (2002). "The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9". Genes Chromosomes Cancer 34 (4): 437–43. doi:10.1002/gcc.10077. PMID 12112533.
- Debeer P, Bacchelli C, Scambler PJ et al. (2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". J. Med. Genet. 39 (11): 852–6. doi:10.1136/jmg.39.11.852. PMC 1735011. PMID 12414828.
- 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. PMC 139241. PMID 12477932.
External links
- GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome
- HOXA13 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.
|