HOXD13

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene.^[5][6][7] 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.^[8]

Changes in the expression of the Hoxd13 gene in early lobe-finned fish may have also contributed to the evolution of the tetrapod limb.^[9] 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.^[10] A number of similar studies conducted with a range of animals, including catsharks^[11] and marsupials,^[12] 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

• Homeobox

References

Further reading

• Johnson RL, Tabin CJ (September 1997). "Molecular models for vertebrate limb development". Cell. 90 (6): 979–90.
  S2CID 16213729
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• Goodman FR (October 2002). "Limb malformations and the human HOX genes". American Journal of Medical Genetics. 112 (3): 256–65.
  PMID 12357469
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• Scott MP (November 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3.
  S2CID 13370372
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• 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.
  PMID 1675198
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• 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.
  PMID 7581388
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• 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.
  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.
  PMID 8817328
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• Warren ST (January 1997). "Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13". Science. 275 (5298): 408–9.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  PMID 12620993
  .

External links

• HOXD13+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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