HOXD13

Homeobox D13, also known as HOXD13, is a human gene.cite web | title = Entrez Gene: HOXD13 homeobox D13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3239| accessdate = ]

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.cite web | title = Entrez Gene: HOXD13 homeobox D13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3239| accessdate = ] The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.cite journal | author = Davis AP, Capecchi MR | title = A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse | journal = Development | volume = 122 | issue = 4 | pages = 1175–85 | year = 1996 | month = April | pmid = 8620844 | url = http://dev.biologists.org/cgi/pmidlookup?view=long&pmid=8620844 | issn = ]

ee also

* Homeobox

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Johnson RL, Tabin CJ |title=Molecular models for vertebrate limb development. |journal=Cell |volume=90 |issue= 6 |pages= 979–90 |year= 1997 |pmid= 9323126 |doi=
*cite journal | author=Goodman FR |title=Limb malformations and the human HOX genes. |journal=Am. J. Med. Genet. |volume=112 |issue= 3 |pages= 256–65 |year= 2003 |pmid= 12357469 |doi= 10.1002/ajmg.10776
*cite journal | author=Scott MP |title=Vertebrate homeobox gene nomenclature. |journal=Cell |volume=71 |issue= 4 |pages= 551–3 |year= 1992 |pmid= 1358459 |doi=
*cite journal | author=D'Esposito M, Morelli F, Acampora D, "et al." |title=EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. |journal=Genomics |volume=10 |issue= 1 |pages= 43–50 |year= 1991 |pmid= 1675198 |doi=
*cite journal | author=McAlpine PJ, Shows TB |title=Nomenclature for human homeobox genes. |journal=Genomics |volume=7 |issue= 3 |pages= 460 |year= 1990 |pmid= 1973146 |doi=
*cite journal | author=Acampora D, D'Esposito M, Faiella A, "et al." |title=The human HOX gene family. |journal=Nucleic Acids Res. |volume=17 |issue= 24 |pages= 10385–402 |year= 1990 |pmid= 2574852 |doi=
*cite journal | author=Sarfarazi M, Akarsu AN, Sayli BS |title=Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. |journal=Hum. Mol. Genet. |volume=4 |issue= 8 |pages= 1453–8 |year= 1995 |pmid= 7581388 |doi=
*cite journal | author=Muragaki Y, Mundlos S, Upton J, Olsen BR |title=Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. |journal=Science |volume=272 |issue= 5261 |pages= 548–51 |year= 1996 |pmid= 8614804 |doi=
*cite journal | author=Akarsu AN, Stoilov I, Yilmaz E, "et al." |title=Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. |journal=Hum. Mol. Genet. |volume=5 |issue= 7 |pages= 945–52 |year= 1997 |pmid= 8817328 |doi=
*cite journal | author=Warren ST |title=Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. |journal=Science |volume=275 |issue= 5298 |pages= 408–9 |year= 1997 |pmid= 9005557 |doi=
*cite journal | author=Goodman FR, Mundlos S, Muragaki Y, "et al." |title=Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 14 |pages= 7458–63 |year= 1997 |pmid= 9207113 |doi=
*cite journal | author=Goodman F, Giovannucci-Uzielli ML, Hall C, "et al." |title=Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. |journal=Am. J. Hum. Genet. |volume=63 |issue= 4 |pages= 992–1000 |year= 1998 |pmid= 9758628 |doi=
*cite journal | author=Limongi MZ, Pelliccia F, Gaddini L, Rocchi A |title=Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1. |journal=Cytogenet. Cell Genet. |volume=90 |issue= 1-2 |pages= 151–3 |year= 2000 |pmid= 11060466 |doi=
*cite journal | author=Harrington JJ, Sherf B, Rundlett S, "et al." |title=Creation of genome-wide protein expression libraries using random activation of gene expression. |journal=Nat. Biotechnol. |volume=19 |issue= 5 |pages= 440–5 |year= 2001 |pmid= 11329013 |doi= 10.1038/88107
*cite journal | author=Goodman FR, Majewski F, Collins AL, Scambler PJ |title=A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 547–55 |year= 2002 |pmid= 11778160 |doi=
*cite journal | author=Kosaki K, Kosaki R, Suzuki T, "et al." |title=Complete mutation analysis panel of the 39 human HOX genes. |journal=Teratology |volume=65 |issue= 2 |pages= 50–62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009
*cite journal | author=Debeer P, Bacchelli C, Scambler PJ, "et al." |title=Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. |journal=J. Med. Genet. |volume=39 |issue= 11 |pages= 852–6 |year= 2002 |pmid= 12414828 |doi=
*cite journal | author=Caronia G, Goodman FR, McKeown CM, "et al." |title=An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. |journal=Development |volume=130 |issue= 8 |pages= 1701–12 |year= 2003 |pmid= 12620993 |doi=

External links

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