HOXD12 explained

Homeobox protein Hox-D12 is a protein that in humans is encoded by the HOXD12 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. The product of the mouse Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis.^[4]

See also

Homeobox

Further reading

Johnson RL, Tabin CJ . Molecular models for vertebrate limb development. . Cell . 90 . 6 . 979–90 . 1997 . 9323126 . 10.1016/S0092-8674(00)80364-5 . 16213729 . free .
Goodman FR . Limb malformations and the human HOX genes. . Am. J. Med. Genet. . 112 . 3 . 256–65 . 2003 . 12357469 . 10.1002/ajmg.10776 .
Scott MP . Vertebrate homeobox gene nomenclature. . Cell . 71 . 4 . 551–3 . 1992 . 1358459 . 10.1016/0092-8674(92)90588-4 . 13370372 .
Acampora D, D'Esposito M, Faiella A, etal . The human HOX gene family . Nucleic Acids Res. . 17 . 24 . 10385–402 . 1990 . 2574852 . 10.1093/nar/17.24.10385 . 335308 .
Shen WF, Montgomery JC, Rozenfeld S, etal . AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins . Mol. Cell. Biol. . 17 . 11 . 6448–58 . 1997 . 9343407 . 10.1128/MCB.17.11.6448. 232497 .
Del Campo M, Jones MC, Veraksa AN, etal . 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 . 10.1086/302467 . 1378080 .
Kataoka K, Yoshitomo-Nakagawa K, Shioda S, Nishizawa M . A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities . J. Biol. Chem. . 276 . 1 . 819–26 . 2001 . 11036080 . 10.1074/jbc.M007643200 . 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 . 10.1086/338921 . 384929 .
Kosaki K, Kosaki R, Suzuki T, etal . Complete mutation analysis panel of the 39 human HOX genes . Teratology . 65 . 2 . 50–62 . 2002 . 11857506 . 10.1002/tera.10009 .
Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
Zhao X, Sun M, Zhao J, etal . Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome . Am. J. Hum. Genet. . 80 . 2 . 361–71 . 2007 . 17236141 . 10.1086/511387 . 1785357 .

Notes and References

D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E . 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 . July 1991. 1675198 . 10.1016/0888-7543(91)90482-T .
McAlpine PJ, Shows TB . Nomenclature for human homeobox genes . Genomics . 7 . 3 . 460 . August 1990. 1973146 . 10.1016/0888-7543(90)90186-X .
Web site: Entrez Gene: HOXD12 homeobox D12.
Davis AP, Capecchi MR . A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse . Development . 122 . 4 . 1175–85 . 1 April 1996. 10.1242/dev.122.4.1175 . 8620844 . subscription .