Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene.[1][2][3]
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly and Brachydactyly.[3] The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.[4]
See also
References
- ^ Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (February 1990). "The human HOX gene family". Nucleic Acids Res 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
- ^ McAlpine PJ, Shows TB (August 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- ^ a b "Entrez Gene: HOXD13 homeobox D13".
- ^ Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse". Development 122 (4): 1175–85. PMID 8620844.
Further reading
- Johnson RL, Tabin CJ (1997). "Molecular models for vertebrate limb development". Cell 90 (6): 979–90. doi:10.1016/S0092-8674(00)80364-5. PMID 9323126.
- Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256–65. doi:10.1002/ajmg.10776. PMID 12357469.
- Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
- D'Esposito M, Morelli F, Acampora D et al. (1991). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics 10 (1): 43–50. doi:10.1016/0888-7543(91)90482-T. PMID 1675198.
- Sarfarazi M, Akarsu AN, Sayli BS (1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker". Hum. Mol. Genet. 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.
- Muragaki Y, Mundlos S, Upton J, Olsen BR (1996). "Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13". Science 272 (5261): 548–51. doi:10.1126/science.272.5261.548. PMID 8614804.
- Akarsu AN, Stoilov I, Yilmaz E et al. (1997). "Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families". Hum. Mol. Genet. 5 (7): 945–52. doi:10.1093/hmg/5.7.945. PMID 8817328.
- Warren ST (1997). "Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13". Science 275 (5298): 408–9. doi:10.1126/science.275.5298.408. PMID 9005557.
- Goodman FR, Mundlos S, Muragaki Y et al. (1997). "Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract". Proc. Natl. Acad. Sci. U.S.A. 94 (14): 7458–63. doi:10.1073/pnas.94.14.7458. PMC 23843. PMID 9207113.
- Goodman F, Giovannucci-Uzielli ML, Hall C et al. (1998). "Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families". Am. J. Hum. Genet. 63 (4): 992–1000. doi:10.1086/302070. PMC 1377502. PMID 9758628.
- Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466.
- Harrington JJ, Sherf B, Rundlett S et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013.
- Goodman FR, Majewski F, Collins AL, Scambler PJ (2002). "A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly". Am. J. Hum. Genet. 70 (2): 547–55. doi:10.1086/338921. PMC 384929. PMID 11778160.
- 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.
- 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.
- Caronia G, Goodman FR, McKeown CM et al. (2003). "An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function". Development 130 (8): 1701–12. doi:10.1242/dev.00396. PMID 12620993.
External links
- HOXD13 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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