Biology:DLX3

Short description: Mammalian protein found in Homo sapiens

Generic protein structure example

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.

Function

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Dlx3 transcription is mediated through Wnt, and colocalization of Dlx3 with phospho-SMAD1/5/8 is involved in the regulation of transcription by BMP signaling. Dlx3 transcription is also induced by BMP-2 through transactivation with SMAD1 and SMAD4.

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17.

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.

Further reading

• "Dlx Genes, p63, and Ectodermal Dysplasias". Birth Defects Res. C 75 (3): 163–71. 2005. doi:10.1002/bdrc.20047. PMID 16187309. 
• "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Nakamura S; Stock DW; Wydner KL et al. (1997). "Genomic analysis of a new mammalian distal-less gene: Dlx7". Genomics 38 (3): 314–24. doi:10.1006/geno.1996.0634. PMID 8975708. 
• Price JA; Bowden DW; Wright JT et al. (1998). "Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome". Hum. Mol. Genet. 7 (3): 563–9. doi:10.1093/hmg/7.3.563. PMID 9467018. 
• Roberson MS; Meermann S; Morasso MI et al. (2001). "A role for the homeobox protein Distal-less 3 in the activation of the glycoprotein hormone alpha subunit gene in choriocarcinoma cells". J. Biol. Chem. 276 (13): 10016–24. doi:10.1074/jbc.M007481200. PMID 11113121. 
• "Phosphorylation of murine homeodomain protein Dlx3 by protein kinase C". FEBS Lett. 496 (1): 60–5. 2001. doi:10.1016/S0014-5793(01)02398-5. PMID 11343707. 
• "AP-2 gamma and the homeodomain protein distal-less 3 are required for placental-specific expression of the murine 3 beta-hydroxysteroid dehydrogenase VI gene, Hsd3b6". J. Biol. Chem. 277 (10): 7945–54. 2002. doi:10.1074/jbc.M106765200. PMID 11773066. 
• Sumiyama K; Irvine SQ; Stock DW et al. (2002). "Genomic structure and functional control of the Dlx3-7 bigene cluster". Proc. Natl. Acad. Sci. U.S.A. 99 (2): 780–5. doi:10.1073/pnas.012584999. PMID 11792834. Bibcode: 2002PNAS...99..780S. 
• Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• Imabayashi H; Mori T; Gojo S et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157. 
• "A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells". Endocrinology 145 (3): 1096–105. 2004. doi:10.1210/en.2003-0777. PMID 14670999. 
• Haldeman RJ; Cooper LF; Hart TC et al. (2005). "Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome". Bone 35 (4): 988–97. doi:10.1016/j.bone.2004.06.003. PMID 15454107. 
• Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
• Dong J; Amor D; Aldred MJ et al. (2005). "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism". Am. J. Med. Genet. A 133 (2): 138–41. doi:10.1002/ajmg.a.30521. PMID 15666299. 
• "Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics 100 (6): 736–42. 2006. doi:10.1016/j.tripleo.2005.04.017. PMID 16301156. 
• Otsuki T; Ota T; Nishikawa T et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743. 
• Morsczeck C (2006). "Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2 in dental follicle cells during osteogenic differentiation in vitro". Calcif. Tissue Int. 78 (2): 98–102. doi:10.1007/s00223-005-0146-0. PMID 16467978. 
• Berghorn KA; Clark-Campbell PA; Han L et al. (2006). "Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding". J. Biol. Chem. 281 (29): 20357–67. doi:10.1074/jbc.M603049200. PMID 16687405. 

External links

• DLX3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: O60479 (Homeobox protein DLX-3) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.