HOXD10
Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.[5]
Function
[edit]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
[edit]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.[5][citation needed]
Regulation
[edit]The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.[6][7][8]
See also
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000128710 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050368 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "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. Bibcode:2007Natur.449..682M. doi:10.1038/nature06174. PMID 17898713. S2CID 4421050.
- ^ Han L, Witmer PD, Casey E, Valle D, Sukumar S (Aug 2007). "DNA methylation regulates MicroRNA expression". Cancer Biology & Therapy. 6 (8): 1284–8. doi:10.4161/cbt.6.8.4486. PMID 17660710.
Further reading
[edit]- 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. Bibcode:2007Natur.449..682M. doi:10.1038/nature06174. PMID 17898713. S2CID 4421050.
- 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. doi:10.1242/dev.116.2.289. 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. S2CID 13370372.
- 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. doi:10.1002/j.1460-2075.1991.tb04996.x. 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. 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. doi:10.1002/j.1460-2075.1994.tb06636.x. 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. doi:10.1128/mcb.19.11.7577. 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. S2CID 35579702.
- 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
[edit]- HOXD10+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
| |||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.
Cover photo is available under {{::mainImage.info.license.name || 'Unknown'}} license.
Cover photo is available under {{::mainImage.info.license.name || 'Unknown'}} license.
Credit:
(see original file).
