HOXD10
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Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.[4]
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.[4]
Regulation
The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.[5][6][7]
See also
References
- ↑ "Diseases that are genetically associated with HOXD10 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: HOXD10 homeobox D10".
- ↑ Lund AH (Feb 2010). "miR-10 in development and cancer". Cell Death and Differentiation. 17 (2): 209–14. doi:10.1038/cdd.2009.58. PMID 19461655.
- ↑ Ma L, Teruya-Feldstein J, Weinberg RA (Oct 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer". Nature. 449 (7163): 682–8. doi:10.1038/nature06174. PMID 17898713.
- ↑ Han L, Witmer PD, Casey E, Valle D, Sukumar S (Aug 2007). "DNA methylation regulates MicroRNA expression". Cancer Biology & Therapy. 6 (8): 1284–8. PMID 17660710.
Further reading
- Ma L, Teruya-Feldstein J, Weinberg RA (Oct 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer". Nature. 449 (7163): 682–8. doi:10.1038/nature06174. PMID 17898713.
- Tabin CJ (Oct 1992). "Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs". Development. 116 (2): 289–96. PMID 1363084.
- Goodman FR (Oct 2002). "Limb malformations and the human HOX genes". American Journal of Medical Genetics. 112 (3): 256–65. doi:10.1002/ajmg.10776. PMID 12357469.
- Redline RW, Williams AJ, Patterson P, Collins T (Jun 1992). "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts". Genomics. 13 (2): 425–30. doi:10.1016/0888-7543(92)90263-R. PMID 1351871.
- Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
- Zappavigna V, Renucci A, Izpisúa-Belmonte JC, Urier G, Peschle C, Duboule D (Dec 1991). "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities". The EMBO Journal. 10 (13): 4177–87. PMC 453170
. PMID 1756725. - McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A (Oct 1990). "Expression of HOX homeogenes in human neuroblastoma cell culture lines". Differentiation; Research in Biological Diversity. 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID 1981366.
- Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
- Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome / National Research Council Canada = Génome / Conseil National De Recherches Canada. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
- Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (Jul 1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". The EMBO Journal. 13 (14): 3339–47. PMC 395231. PMID 7913891.
- Redline RW, Hudock P, MacFee M, Patterson P (Nov 1994). "Expression of AbdB-type homeobox genes in human tumors". Laboratory Investigation; A Journal of Technical Methods and Pathology. 71 (5): 663–70. PMID 7967520.
- Wulfsberg EA, Mirkinson LJ, Meister SJ (Jun 1993). "Autosomal dominant tetramelic postaxial oligodactyly". American Journal of Medical Genetics. 46 (5): 579–83. doi:10.1002/ajmg.1320460524. PMID 8100684.
- Osborne J, Hu C, Hawley C, Underwood LJ, O'Brien TJ, Baker VV (1998). "Expression of HOXD10 gene in normal endometrium and endometrial adenocarcinoma". Journal of the Society for Gynecologic Investigation. 5 (5): 277–80. doi:10.1016/S1071-5576(98)00020-3. PMID 9773404.
- Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (Jul 1999). "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. doi:10.1086/302467. PMC 1378080. PMID 10364522.
- Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (Nov 1999). "PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins". Molecular and Cellular Biology. 19 (11): 7577–88. PMC 84774. PMID 10523646.
- 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.
- Shen WF, Krishnan K, Lawrence HJ, Largman C (Nov 2001). "The HOX homeodomain proteins block CBP histone acetyltransferase activity". Molecular and Cellular Biology. 21 (21): 7509–22. doi:10.1128/MCB.21.21.7509-7522.2001. PMC 99922. PMID 11585930.
- Goodman FR, Majewski F, Collins AL, Scambler PJ (Feb 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, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
External links
- HOXD10 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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