HOXD4
Homeobox protein Hox-D4 is a protein that in humans is encoded by the HOXD4 gene.[3][4][5]
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 protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.[5]
See also
References
Further reading
- Cianetti L, Di Cristofaro A, Zappavigna V, Bottero L, Boccoli G, Testa U, Russo G, Boncinelli E, Peschle C (1990). "Molecular mechanisms underlying the expression of the human HOX-5.1 gene". Nucleic Acids Res. 18 (15): 4361–8. doi:10.1093/nar/18.15.4361. PMC 331252
. PMID 1975093.
- 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.
- Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E (1987). "Differential and stage-related expression in embryonic tissues of a new human homoeobox gene". Nature. 324 (6098): 664–8. doi:10.1038/324664a0. PMID 2879245.
- Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". EMBO J. 13 (14): 3339–47. PMC 395231. PMID 7913891.
- Kim YH, Choi CY, Lee SJ, Conti MA, Kim Y (1998). "Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors". J. Biol. Chem. 273 (40): 25875–9. doi:10.1074/jbc.273.40.25875. PMID 9748262.
- Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (1999). "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. doi:10.1086/302467. PMC 1378080. PMID 10364522.
- Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (1999). "PBX and MEIS as Non-DNA-Binding Partners in Trimeric Complexes with HOX Proteins". Mol. Cell. Biol. 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". Cytogenet. Cell Genet. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466.
- Shen WF, Krishnan K, Lawrence HJ, Largman C (2001). "The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity". Mol. Cell. Biol. 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 (2002). "A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly". Am. J. Hum. Genet. 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 (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
- van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C (2006). "Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function". Hum. Mutat. 25 (4): 384–95. doi:10.1002/humu.20155. PMID 15776434.
External links
|
|---|
|
|
|
(2) Zinc finger DNA-binding domains |
|---|
| | (2.1) Nuclear receptor (Cys4) | | subfamily 1 | |
|---|
| | subfamily 2 | |
|---|
| | subfamily 3 | |
|---|
| | subfamily 4 | |
|---|
| | subfamily 5 | |
|---|
| | subfamily 6 | |
|---|
| | subfamily 0 | |
|---|
|
|---|
| | (2.2) Other Cys4 | |
|---|
| | (2.3) Cys2His2 | |
|---|
| | (2.4) Cys6 | |
|---|
| | (2.5) Alternating composition | |
|---|
| | (2.6) WRKY | |
|---|
|
|
|
|
|
| (4) β-Scaffold factors with minor groove contacts |
|---|
| |
|
|
| (0) Other transcription factors |
|---|
| |
|
|
see also transcription factor/coregulator deficiencies |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.