HOXD13

HOXD13
Identifiers
Aliases	HOXD13, BDE, BDSD, HOX4I, SPD, SPD1, homeobox D13
External IDs	OMIM: 142989 MGI: 96205 HomoloGene: 20147 GeneCards: HOXD13
Gene location (Human) Chr. Chromosome 2 (human) Band 2q31.1 Start 176,092,721 bp End 176,095,944 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 44.13 cM Start 74,498,654 bp End 74,501,943 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in urethra vagina Achilles tendon seminal vesicula prostate canal of the cervix vulva rectum urinary bladder human penis Top expressed in left colon hand rectum foot vas deferens urethra footplate Hindgut female urethra male urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity sequence-specific double-stranded DNA binding Cellular component nucleus Biological process pattern specification process skeletal system development regulation of branching involved in prostate gland morphogenesis male genitalia development regulation of transcription, DNA-templated limb morphogenesis embryonic digit morphogenesis embryonic hindgut morphogenesis branch elongation of an epithelium transcription, DNA-templated multicellular organism development gland morphogenesis regulation of cell population proliferation embryonic limb morphogenesis prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis anterior/posterior pattern specification morphogenesis of an epithelial fold transcription by RNA polymerase II prostate gland development response to testosterone positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3239 15433 Ensembl ENSG00000128714 ENSMUSG00000001819 UniProt P35453 P70217 RefSeq (mRNA) NM_000523 NM_008275 RefSeq (protein) NP_000514 NP_032301 Location (UCSC) Chr 2: 176.09 – 176.1 Mb Chr 2: 74.5 – 74.5 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene. 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 9–11 genes arranged in tandem. HOXD13 is the first of several 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. The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.

Changes in the expression of the Hoxd13 gene in early lobe-finned fish may have also contributed to the evolution of the tetrapod limb. Experiments investigating the impact of 5′ Hoxd overexpression in zebrafish embryos observed modified development of distal fin structures, resulting in increased proliferation, distal expansion of cartilage tissue and fin fold reduction. A number of similar studies conducted with a range of animals, including catsharks and marsupials, lend further credibility to the role of the Hoxd13 gene in the fin-to-limb transition.

Clinical significance

Mutations in HOXD13 can cause several types of autosomal dominant syndactyly and brachydactyly, including brachydactyly type D ("club thumb"), brachydactyly type E, syndactyly type 5 and synpolydactyly type 1.

See also

• Homeobox

Further reading

• Johnson RL, Tabin CJ (September 1997). "Molecular models for vertebrate limb development". Cell. 90 (6): 979–90. doi:10.1016/S0092-8674(00)80364-5. PMID 9323126. S2CID 16213729.
• Goodman FR (October 2002). "Limb malformations and the human HOX genes". American Journal of Medical Genetics. 112 (3): 256–65. doi:10.1002/ajmg.10776. PMID 12357469.
• 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.
• D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (May 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 (August 1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker". Human Molecular Genetics. 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.
• Muragaki Y, Mundlos S, Upton J, Olsen BR (April 1996). "Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13". Science. 272 (5261): 548–51. Bibcode:1996Sci...272..548M. doi:10.1126/science.272.5261.548. PMID 8614804. S2CID 25054058.
• Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M (July 1996). "Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families". Human Molecular Genetics. 5 (7): 945–52. doi:10.1093/hmg/5.7.945. PMID 8817328.
• Warren ST (January 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, Donnai D, Giovannucci-Uzielli ML, Lapi E, et al. (July 1997). "Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract". Proceedings of the National Academy of Sciences of the United States of America. 94 (14): 7458–63. Bibcode:1997PNAS...94.7458G. doi:10.1073/pnas.94.14.7458. PMC 23843. PMID 9207113.
• Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P (October 1998). "Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families". American Journal of Human Genetics. 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". Cytogenetics and Cell Genetics. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466. S2CID 35579702.
• Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, et al. (May 2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nature Biotechnology. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
• Goodman FR, Majewski F, Collins AL, Scambler PJ (February 2002). "A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly". American Journal of Human Genetics. 70 (2): 547–55. doi:10.1086/338921. PMC 384929. PMID 11778160.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, et al. (February 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, De Smet L, Fryns JP, Goodman FR (November 2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of Medical Genetics. 39 (11): 852–6. doi:10.1136/jmg.39.11.852. PMC 1735011. PMID 12414828.
• Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V (April 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 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.