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词条 DLX3
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{expert needed|1=Genetics|date=June 2015}}{{technical|date=June 2015}}{{Infobox_gene}}Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.[1][2]

Function

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Specifically, colocalization of phosphorylated Smad1 / 5 / 8 complex and Dlx3 regulate role for BMP signaling to Dlx3 during hair morphogenesis in animal models.[3][4]

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.[2]

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.[2]

References

1. ^{{cite journal | vauthors = Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC | title = Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization | journal = Mamm Genome | volume = 6 | issue = 4 | pages = 310–1 |date=Aug 1995 | pmid = 7613049 | pmc = | doi =10.1007/BF00352432 }}
2. ^{{cite web | title = Entrez Gene: DLX3 distal-less homeobox 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1747| accessdate = }}
3. ^{{cite journal | vauthors = Hwang J, Mehrani T, Millar SE, Morasso MI | title = Dlx3 is a crucial regulator of hair follicle differentiation and cycling | journal = Development | volume = 135 | issue = 18 | pages = 3149–59 |date=September 2008 | pmid = 18684741 | pmc = 2707782 | doi = 10.1242/dev.022202 }}
4. ^{{cite journal | vauthors = Park GT, Morasso MI | title = Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes | journal = Nucleic Acids Res. | volume = 30 | issue = 2 | pages = 515–22 |date=January 2002 | pmid = 11788714 | pmc = 99823 | doi = 10.1093/nar/30.2.515 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Morasso MI, Radoja N |title=Dlx Genes, p63, and Ectodermal Dysplasias |journal=Birth Defects Res. C Embryo Today |volume=75 |issue= 3 |pages= 163–71 |year= 2005 |pmid= 16187309 |doi= 10.1002/bdrc.20047 | pmc=1317295 }}
  • {{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
  • {{cite journal | author=Nakamura S |title=Genomic analysis of a new mammalian distal-less gene: Dlx7 |journal=Genomics |volume=38 |issue= 3 |pages= 314–24 |year= 1997 |pmid= 8975708 |doi= 10.1006/geno.1996.0634 |name-list-format=vanc| author2=Stock DW | author3=Wydner KL | display-authors=3 | last4=Bollekens | first4=Jacques A. | last5=Takeshita | first5=Kenichi | last6=Nagai | first6=Brian M. | last7=Chiba | first7=Shigeru | last8=Kitamura | first8=Toshio | last9=Freeland | first9=Thomas M. }}
  • {{cite journal | author=Price JA |title=Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 563–9 |year= 1998 |pmid= 9467018 |doi=10.1093/hmg/7.3.563 |name-list-format=vanc| author2=Bowden DW | author3=Wright JT | display-authors=3 | last4=Pettenati | first4=MJ | last5=Hart | first5=TC }}
  • {{cite journal | author=Roberson MS |title=A role for the homeobox protein Distal-less 3 in the activation of the glycoprotein hormone alpha subunit gene in choriocarcinoma cells |journal=J. Biol. Chem. |volume=276 |issue= 13 |pages= 10016–24 |year= 2001 |pmid= 11113121 |doi= 10.1074/jbc.M007481200 |name-list-format=vanc| author2=Meermann S | author3=Morasso MI | display-authors=3 | last4=Mulvaney-Musa | first4=JM | last5=Zhang | first5=T }}
  • {{cite journal | vauthors=Park GT, Denning MF, Morasso MI |title=Phosphorylation of murine homeodomain protein Dlx3 by protein kinase C |journal=FEBS Lett. |volume=496 |issue= 1 |pages= 60–5 |year= 2001 |pmid= 11343707 |doi=10.1016/S0014-5793(01)02398-5 | pmc=1283141 }}
  • {{cite journal | vauthors=Peng L, Payne AH |title=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 |journal=J. Biol. Chem. |volume=277 |issue= 10 |pages= 7945–54 |year= 2002 |pmid= 11773066 |doi= 10.1074/jbc.M106765200 }}
  • {{cite journal | author=Sumiyama K |title=Genomic structure and functional control of the Dlx3-7 bigene cluster |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 2 |pages= 780–5 |year= 2002 |pmid= 11792834 |doi= 10.1073/pnas.012584999 | pmc=117382 |name-list-format=vanc| author2=Irvine SQ | author3=Stock DW | display-authors=3 | last4=Weiss | first4=KM | last5=Kawasaki | first5=K | last6=Shimizu | first6=N | last7=Shashikant | first7=CS | last8=Miller | first8=W | last9=Ruddle | first9=FH }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
  • {{cite journal | author=Imabayashi H |title=Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis |journal=Exp. Cell Res. |volume=288 |issue= 1 |pages= 35–50 |year= 2003 |pmid= 12878157 |doi=10.1016/S0014-4827(03)00130-7 |name-list-format=vanc| author2=Mori T | author3=Gojo S | display-authors=3 | last4=Kiyono | first4=T | last5=Sugiyama | first5=T | last6=Irie | first6=R | last7=Isogai | first7=T | last8=Hata | first8=J | last9=Toyama | first9=Y }}
  • {{cite journal | vauthors=Holland MP, Bliss SP, Berghorn KA, Roberson MS |title=A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells |journal=Endocrinology |volume=145 |issue= 3 |pages= 1096–105 |year= 2004 |pmid= 14670999 |doi= 10.1210/en.2003-0777 }}
  • {{cite journal | author=Haldeman RJ |title=Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome |journal=Bone |volume=35 |issue= 4 |pages= 988–97 |year= 2005 |pmid= 15454107 |doi= 10.1016/j.bone.2004.06.003 |name-list-format=vanc| author2=Cooper LF | author3=Hart TC | display-authors=3 | last4=Phillips | first4=Ceib | last5=Boyd | first5=Courtney | last6=Lester | first6=Gayle E. | last7=Wright | first7=J.Timothy }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal | author=Dong J |title=DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism |journal=Am. J. Med. Genet. A |volume=133 |issue= 2 |pages= 138–41 |year= 2005 |pmid= 15666299 |doi= 10.1002/ajmg.a.30521 |name-list-format=vanc| author2=Amor D | author3=Aldred MJ | display-authors=3 | last4=Gu | first4=Tingting | last5=Escamilla | first5=Michael | last6=MacDougall | first6=Mary }}
  • {{cite journal | vauthors=Islam M, Lurie AG, Reichenberger E |title=Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity |journal=Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics |volume=100 |issue= 6 |pages= 736–42 |year= 2006 |pmid= 16301156 |doi= 10.1016/j.tripleo.2005.04.017 }}
  • {{cite journal | author=Otsuki T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 |name-list-format=vanc| author2=Ota T | author3=Nishikawa T | display-authors=3 | last4=Hayashi | first4=K | last5=Suzuki | first5=Y | last6=Yamamoto | first6=J | last7=Wakamatsu | first7=A | last8=Kimura | first8=K | last9=Sakamoto | first9=K }}
  • {{cite journal | author=Morsczeck C |title=Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2 in dental follicle cells during osteogenic differentiation in vitro |journal=Calcif. Tissue Int. |volume=78 |issue= 2 |pages= 98–102 |year= 2006 |pmid= 16467978 |doi= 10.1007/s00223-005-0146-0 }}
  • {{cite journal | author=Berghorn KA |title=Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding |journal=J. Biol. Chem. |volume=281 |issue= 29 |pages= 20357–67 |year= 2006 |pmid= 16687405 |doi= 10.1074/jbc.M603049200 |name-list-format=vanc| author2=Clark-Campbell PA | author3=Han L | display-authors=3 | last4=McGrattan | first4=M | last5=Weiss | first5=RS | last6=Roberson | first6=MS }}
{{refend}}

External links

  • {{MeshName|DLX3+protein,+human}}
{{NLM content}}{{Transcription factors|g3}}{{gene-17-stub}}

1 : Transcription factors

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