Homeobox protein DLX-5

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DLX5
DLX5
Structure of the DLX5 protein

The homeobox protein Dlx5 is a protein for which the existing in people Dlx5 - gene coded.

function

The gene is very similar to the Drosophila “Distal-less” genes (DLX). The “Distal-less” (Dlx) gene family comprises at least six different elements, DLX1 – DLX6. The encoded protein has a role in bone development and fracture healing. Mutations in the gene, which occurs in a configuration with other members of the gene family on the long arm of chromosome 7 , can be associated with a malformation (“split-hand / split-foot”).

interaction

DLX5 exhibited protein-protein interactions in DLX2 , MSX1 and Msh homeobox 2 .

mutation

Mutations in the DLX5 gene are involved in ectrodactyly .

Individual evidence

  1. ↑ Simeone A, Acampora D, Pannese M, D'Esposito M, Stornaiuolo A, Gulisano M, Mallamaci A, Kastury K, Druck T, Huebner K, et al .: Cloning and characterization of two members of the vertebrate Dlx gene family . In: Proc Natl Acad Sci USA . 91, No. 6, April 1994, pp. 2250-4. doi : 10.1073 / pnas.91.6.2250 . PMID 7907794 . PMC 43348 (free full text).
  2. ↑ a b Entrez Gene: DLX5 distal-less homeobox 5 . Retrieved October 28, 2011.
  3. ↑ a b c H Zhang, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C: Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism . In: Mol. Cell. Biol . 17, No. 5, UNITED STATES, May 1997, ISSN  0270-7306 , pp. 2920-32. PMID 9111364 . PMC 232144 (free full text).
  4. ↑ Shamseldin HE, Faden MA, Alashram W, Alkuraya FS: Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation . In: J Med Genet . November 2011. doi : 10.1136 / jmedgenet-2011-100556 . PMID 22121204 .

literature

  • Bapat S, Galande S: Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome. . In: Bioessays . 27, No. 7, 2005, pp. 676-80. doi : 10.1002 / bies.20266 . PMID 15954098 .
  • Scherer SW, Poorkaj P, Massa H, et al. : Physical mapping of the split hand / split foot locus on chromosome 7 and implication in syndromic ectrodactyly. . In: Hum. Mol. Genet. . 3, No. 8, 1995, pp. 1345-54. doi : 10.1093 / hmg / 3.8.1345 . PMID 7987313 .
  • Hillier LD, Lennon G, Becker M, et al. : Generation and analysis of 280,000 human expressed sequence tags. . In: Genome Res. . 6, No. 9, 1997, pp. 807-28. doi : 10.1101 / gr.6.9.807 . PMID 8889549 .
  • Zhang H, Hu G, Wang H, et al. : Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism. . In: Mol. Cell. Biol . 17, No. 5, 1997, pp. 2920-32. PMID 9111364 . PMC 232144 (free full text).
  • Newberry EP, Latifi T, Towler DA: The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter. . In: Biochemistry . 38, No. 33, 1999, pp. 10678-90. doi : 10.1021 / bi990967j . PMID 10451362 .
  • Eisenstat DD, Liu JK, Mione M, et al. : DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal forebrain differentiation. . In: J. Comp. Neurol. . 414, No. 2, 1999, pp. 217-37. doi : 10.1002 / (SICI) 1096-9861 (19991115) 414: 2 <217 :: AID-CNE6> 3.0.CO; 2-I . PMID 10516593 .
  • Masuda Y, Sasaki A, Shibuya H, et al. : Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function. . In: J. Biol. Chem. . 276, No. 7, 2001, pp. 5331-8. doi : 10.1074 / jbc.M008590200 . PMID 11084035 .
  • Yu G, Zerucha T, Ekker M, Rubenstein JL: Evidence that GRIP, a PDZ-domain protein which is expressed in the embryonic forebrain, co-activates transcription with DLX homeodomain proteins. . In: Brain Res Dev Brain Res... . 130, No. 2, 2002, pp. 217-30. doi : 10.1016 / S0165-3806 (01) 00239-5 . PMID 11675124 .
  • Sasaki A, Masuda Y, Iwai K, et al. : A RING finger protein Praja1 regulates Dlx5-dependent transcription through its ubiquitin ligase activity for the Dlx / Msx-interacting MAGE / Necdin family protein, Dlxin-1. . In: J. Biol. Chem. . 277, No. 25, 2002, pp. 22541-6. doi : 10.1074 / jbc.M109728200 . PMID 11959851 .
  • Willis DM, Loewy AP, Charlton-Kachigian N, et al. : Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. . In: J. Biol. Chem. . 277, No. 40, 2002, pp. 37280-91. doi : 10.1074 / jbc.M206482200 . PMID 12145306 .
  • Strausberg RL, Feingold EA, Grouse LH, et al. : Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . In: Proc. Natl. Acad. Sci. USA . 99, No. 26, 2003, pp. 16899-903. doi : 10.1073 / pnas.242603899 . PMID 12477932 . PMC 139241 (free full text).
  • Scherer SW, Cheung J, MacDonald JR, et al. : Human chromosome 7: DNA sequence and biology. . In: Science . 300, No. 5620, 2003, pp. 767-72. doi : 10.1126 / science.1083423 . PMID 12690205 . PMC 2882961 (free full text).
  • Okita C, Meguro M, Hoshiya H, et al. : A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids. . In: Genomics . 81, No. 6, 2004, pp. 556-9. doi : 10.1016 / S0888-7543 (03) 00052-1 . PMID 12782124 .
  • Hillier LW, Fulton RS, Fulton LA, et al. : The DNA sequence of human chromosome 7 . In: Nature . 424, No. 6945, 2003, pp. 157-64. doi : 10.1038 / nature01782 . PMID 12853948 .
  • Ota T, Suzuki Y, Nishikawa T, et al. : Complete sequencing and characterization of 21,243 full-length human cDNAs. . In: Nat. Genet. . 36, No. 1, 2004, pp. 40-5. doi : 10.1038 / ng1285 . PMID 14702039 .
  • Gerhard DS, Wagner L, Feingold EA, et al. : The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . In: Genome Res. . 14, No. 10B, 2004, pp. 2121-7. doi : 10.1101 / gr.2596504 . PMID 15489334 . PMC 528928 (free full text).
  • Rual JF, Venkatesan K, Hao T, et al. : Towards a proteome-scale map of the human protein-protein interaction network. . In: Nature . 437, No. 7062, 2005, pp. 1173-8. doi : 10.1038 / nature04209 . PMID 16189514 .
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