HOXD9 explained

Homeobox protein Hox-D9 is a protein that in humans is encoded by the HOXD9 gene.^{[1] [2] [3]}

Function

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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined.^[3]

See also

• Homeobox

Further reading

• Zappavigna V, Renucci A, Izpisúa-Belmonte JC, Urier G, Peschle C, Duboule D . HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities . EMBO J. . 10 . 13 . 4177–87 . 1992 . 1756725 . 453170 . 10.1002/j.1460-2075.1991.tb04996.x.
• Oliver G, Sidell N, Fiske W, Heinzmann C, Mohandas T, Sparkes RS, De Robertis EM . Complementary homeo protein gradients in developing limb buds . Genes Dev. . 3 . 5 . 641–50 . 1989 . 2568311 . 10.1101/gad.3.5.641 . free .
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E . The human HOX gene family . Nucleic Acids Res. . 17 . 24 . 10385–402 . 1990 . 2574852 . 335308 . 10.1093/nar/17.24.10385 .
• Kanzler B, Viallet JP, Le Mouellic H, Boncinelli E, Duboule D, Dhouailly D . Differential expression of two different homeobox gene families during mouse tegument morphogenesis . Int. J. Dev. Biol. . 38 . 4 . 633–40 . 1995 . 7779685 .
• Zappavigna V, Sartori D, Mavilio F . Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain . Genes Dev. . 8 . 6 . 732–44 . 1994 . 7926763 . 10.1101/gad.8.6.732 . free .
• Zappavigna V, Falciola L, Helmer-Citterich M, Mavilio F, Bianchi ME . HMG1 interacts with HOX proteins and enhances their DNA binding and transcriptional activation . EMBO J. . 15 . 18 . 4981–91 . 1996 . 8890171 . 452236 . 10.1002/j.1460-2075.1996.tb00878.x.
• Phelan ML, Featherstone MS . Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers . J. Biol. Chem. . 272 . 13 . 8635–43 . 1997 . 9079695 . 10.1074/jbc.272.13.8635 . free .
• Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W . Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster . Am. J. Hum. Genet. . 65 . 1 . 104–10 . 1999 . 10364522 . 1378080 . 10.1086/302467 .
• de la Cruz CC, Der-Avakian A, Spyropoulos DD, Tieu DD, Carpenter EM . Targeted disruption of Hoxd9 and Hoxd10 alters locomotor behavior, vertebral identity, and peripheral nervous system development . Dev. Biol. . 216 . 2 . 595–610 . 2000 . 10642795 . 10.1006/dbio.1999.9528. free .
• Limongi MZ, Pelliccia F, Gaddini L, Rocchi A . Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1 . Cytogenet. Cell Genet. . 90 . 1–2 . 151–3 . 2000 . 11060466 . 10.1159/000015651 . 35579702 .
• Goodman FR, Majewski F, Collins AL, Scambler PJ . A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly . Am. J. Hum. Genet. . 70 . 2 . 547–55 . 2002 . 11778160 . 384929 . 10.1086/338921 .
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N . Complete mutation analysis panel of the 39 human HOX genes . Teratology . 65 . 2 . 50–62 . 2002 . 11857506 . 10.1002/tera.10009 .
• Nguyen NC, Hirose T, Nakazawa M, Kobata T, Nakamura H, Nishioka K, Nakajima T . Expression of HOXD9 in fibroblast-like synoviocytes from rheumatoid arthritis patients . Int. J. Mol. Med. . 10 . 1 . 41–8 . 2002 . 12060849 . 10.3892/ijmm.10.1.41 .
• Méchine-Neuville A, Lefebvre O, Bellocq JP, Kedinger M, Simon-Assmann P . [Increased expression of HOXA9 gene in Hirschsprung disease] . Gastroenterol. Clin. Biol. . 26 . 12 . 1110–7 . 2003 . 12520199 .
• Liu DB, Gu ZD, Cao XZ, Liu H, Li JY . Immunocytochemical detection of HoxD9 and Pbx1 homeodomain protein expression in Chinese esophageal squamous cell carcinomas . World J. Gastroenterol. . 11 . 10 . 1562–6 . 2005 . 15770739 . 10.3748/wjg.v11.i10.1562. 4305705 . free .
• Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X . Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome . Am. J. Hum. Genet. . 80 . 2 . 361–71 . 2007 . 17236141 . 1785357 . 10.1086/511387 .

Notes and References

1. McAlpine PJ, Shows TB . Nomenclature for human homeobox genes . Genomics . 7 . 3 . 460 . Aug 1990 . 1973146 . 10.1016/0888-7543(90)90186-X .
2. Scott MP . Vertebrate homeobox gene nomenclature . Cell . 71 . 4 . 551–3 . Dec 1992 . 1358459 . 10.1016/0092-8674(92)90588-4 . 13370372 .
3. Web site: Entrez Gene: HOXD9 homeobox D9.