HOXD10 explained

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.^[1]

Function

This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development.

Clinical significance

Mutations in this gene have been associated with Wilms' tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease.^[1]

Regulation

The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.^{[2] [3] [4]}

See also

• Homeobox

Further reading

• Ma L, Teruya-Feldstein J, Weinberg RA . Tumour invasion and metastasis initiated by microRNA-10b in breast cancer . Nature . 449 . 7163 . 682–8 . Oct 2007 . 17898713 . 10.1038/nature06174 . 2007Natur.449..682M . 4421050 .
• Tabin CJ . Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs . Development . 116 . 2 . 289–96 . Oct 1992 . 10.1242/dev.116.2.289 . 1363084 .
• Goodman FR . Limb malformations and the human HOX genes . American Journal of Medical Genetics . 112 . 3 . 256–65 . Oct 2002 . 12357469 . 10.1002/ajmg.10776 .
• Redline RW, Williams AJ, Patterson P, Collins T . Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts . Genomics . 13 . 2 . 425–30 . Jun 1992 . 1351871 . 10.1016/0888-7543(92)90263-R .
• Scott MP . Vertebrate homeobox gene nomenclature . Cell . 71 . 4 . 551–3 . Nov 1992 . 1358459 . 10.1016/0092-8674(92)90588-4 . 13370372 .
• 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 . The EMBO Journal . 10 . 13 . 4177–87 . Dec 1991 . 1756725 . 453170 . 10.1002/j.1460-2075.1991.tb04996.x.
• McAlpine PJ, Shows TB . Nomenclature for human homeobox genes . Genomics . 7 . 3 . 460 . Jul 1990 . 1973146 . 10.1016/0888-7543(90)90186-X .
• Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A . Expression of HOX homeogenes in human neuroblastoma cell culture lines . Differentiation; Research in Biological Diversity . 45 . 1 . 61–9 . Oct 1990 . 1981366 . 10.1111/j.1432-0436.1990.tb00458.x .
• 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 Research . 17 . 24 . 10385–402 . Dec 1989 . 2574852 . 335308 . 10.1093/nar/17.24.10385 .
• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A . Organization of human class I homeobox genes . Genome . 31 . 2 . 745–56 . 1990 . 2576652 . 10.1139/g89-133 .
• Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F . The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins . The EMBO Journal . 13 . 14 . 3339–47 . Jul 1994 . 7913891 . 395231 . 10.1002/j.1460-2075.1994.tb06636.x.
• Redline RW, Hudock P, MacFee M, Patterson P . Expression of AbdB-type homeobox genes in human tumors . Laboratory Investigation; A Journal of Technical Methods and Pathology . 71 . 5 . 663–70 . Nov 1994 . 7967520 .
• Wulfsberg EA, Mirkinson LJ, Meister SJ . Autosomal dominant tetramelic postaxial oligodactyly . American Journal of Medical Genetics . 46 . 5 . 579–83 . Jun 1993 . 8100684 . 10.1002/ajmg.1320460524 .
• Osborne J, Hu C, Hawley C, Underwood LJ, O'Brien TJ, Baker VV . Expression of HOXD10 gene in normal endometrium and endometrial adenocarcinoma . Journal of the Society for Gynecologic Investigation . 5 . 5 . 277–80 . 1998 . 9773404 . 10.1016/S1071-5576(98)00020-3 .
• 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 . American Journal of Human Genetics . 65 . 1 . 104–10 . Jul 1999 . 10364522 . 1378080 . 10.1086/302467 .
• Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS . PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins . Molecular and Cellular Biology . 19 . 11 . 7577–88 . Nov 1999 . 10523646 . 84774 . 10.1128/mcb.19.11.7577 .
• Limongi MZ, Pelliccia F, Gaddini L, Rocchi A . 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 . 2000 . 11060466 . 10.1159/000015651 . 35579702 .
• Shen WF, Krishnan K, Lawrence HJ, Largman C . The HOX homeodomain proteins block CBP histone acetyltransferase activity . Molecular and Cellular Biology . 21 . 21 . 7509–22 . Nov 2001 . 11585930 . 99922 . 10.1128/MCB.21.21.7509-7522.2001 .
• Goodman FR, Majewski F, Collins AL, Scambler PJ . A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly . American Journal of Human Genetics . 70 . 2 . 547–55 . Feb 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 . Feb 2002 . 11857506 . 10.1002/tera.10009 .

Notes and References

1. Web site: Entrez Gene: HOXD10 homeobox D10.
2. Lund AH . miR-10 in development and cancer . Cell Death and Differentiation . 17 . 2 . 209–14 . Feb 2010 . 19461655 . 10.1038/cdd.2009.58 . free .
3. Ma L, Teruya-Feldstein J, Weinberg RA . Tumour invasion and metastasis initiated by microRNA-10b in breast cancer . Nature . 449 . 7163 . 682–8 . Oct 2007 . 17898713 . 10.1038/nature06174 . 2007Natur.449..682M . 4421050 .
4. Han L, Witmer PD, Casey E, Valle D, Sukumar S . DNA methylation regulates MicroRNA expression . Cancer Biology & Therapy . 6 . 8 . 1284–8 . Aug 2007 . 17660710 . 10.4161/cbt.6.8.4486 . free .