GTF2I and GTF2IRD1 genes located in Williams-Beuren syndrome (WBS) critical region encode TFII-I family transcription factors. The aim of this study was to map genomic sites bound by these proteins across promoter regions of developmental regulators associated with craniofacial development.
Design
Chromatin was isolated from human neural crest progenitor cells and the DNA-binding profile was generated using the human RefSeq tiling promoter ChIP-chip arrays.
Results
TFII-I transcription factors are recruited to the promoters of SEC23A, CFDP1, and NSD1 previously defined as TFII-I target genes. Moreover, our analysis revealed additional binding elements that contain E-boxes and initiator-like motifs.
Conclusions
Genome-wide promoter binding studies revealed SEC23A, CFDP1, and NSD1 linked to craniofacial or dental development as direct TFII-I targets. Developmental regulation of these genes by TFII-I factors could contribute to the WBS-specific facial dysmorphism.
AntonellA.Del CampoM.MaganoL.F.. Med Genet.2010; 47: 312–320.
2.
AxelssonS.Variability of the cranial and dental phenotype in Williams syndrome. Swed Dent J Suppl.2005; 170: 3–67.
3.
BajpaiR.CoppolaG.KaulM.TalantovaM.CimadamoreF.NilbrattM.GeschwindD.H.LiptonS.A.TerskikhA.V.Molecular stages of rapid and uniform neuralization of human embryonic stem cells. Cell Death Differ.2009; 16: 807–825.
4.
BayarsaihanD.RuddleF.H.Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. Proc Natl Acad Sci U S A.2000; 97: 7342–7347.
5.
BoyadjievS.A.JusticeC.M.EyaidW.McKusickV.A.LachmanR.S.ChowdryA.B.JabakM.ZwaanJ.WilsonA.F.JabsE.W.A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet.2003; 113: 1–9.
6.
ChenJ.MalcolmT.EstableM.C.RoederR.G.SadowskiI.TFII-I regulates induction of chromosomally integrated human immunodeficiency virus type 1 long terminal repeat in cooperation with USF. J Virol.2005; 79: 4396–4406.
7.
ChimgeN.O.MakeyevA.V.RuddleF.H.BayarsaihanD.Identification of the TFII-I family target genes in the vertebrate genome. Proc Natl Acad Sci U S A.2008; 105: 9006–9010.
8.
ChimgeN.O.MakeyevA.V.WaigelS.J.EnkhmandakhB.BayarsaihanD.PI3K/Akt-dependent functions of TFII-I transcription factors in mouse embryonic stem cells. J Cell Biochem.2012; 113: 1122–1131.
9.
Crusselle-DavisV.J.VieiraK.F.ZhouZ.AnantharamanA.BungertJ.Antagonistic regulation of beta-globin gene expression by helix-loop-helix proteins USF and TFII-I. Mol Cell Biol.2006; 26: 6832–6843.
10.
DiekwischT.G.H.LuanX.CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Gene.2002; 287: 141–147.
11.
EnkhmandakhB.MakeyevA.V.ErdenechimegL.RuddleF.H.ChimgeN.O.Tussie-LunaM.I.RoyA.L.BayarsaihanD.Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci U S A.2009; 106: 181–186.
12.
GruenebergD.A.HenryR.W.BrauerA.NovinaC.D.CheriyathV.RoyA.L.GilmanM.A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. Genes Dev.1997; 11: 2482–2493.
13.
JacksonT.A.TaylorH.E.SharmaD.DesiderioS.DanoffS.K.Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1. J Biol Chem.2005; 280: 29856–29863.
14.
JohnsonD.S.LiW.GordonD.B.. Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets. Genome Res.2008; 18: 393–403.
15.
KuM.SokolS.Y.WuJ.Tussie-LunaM.I.RoyA.L.HataA.Positive and negative regulation of the transforming growth factor beta/activin target gene goosecoid by the TFII-I family of transcription factors. Mol Cell Biol.2005; 16: 7144–7157.
16.
LangM.R.LapierreL.A.FrotscherM.GoldenringJ.R.KnapikE.W.Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nature Genet.2006; 38: 1198–1203.
17.
LazebnikM.B.Tussie-LunaM.I.RoyA.L.Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome. J Biol Chem.2008; 283: 11078–11082.
18.
MakeyevA.V.BayarsaihanD.New TFII-I family target genes involved in embryonic development. Biochem Biophys Res Commun.2009; 386: 554–558.
19.
MakeyevA.BayarsaihanD.Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in the Craniofacial Development. Cleft Palate Craniofac J.2011; 48: 109–116.
20.
OguraY.AzumaM.TsuboiY.KabeY.YamaguchiY.WadaT.WatanabeH.HandaH.TFII-I down-regulates a subset of estrogen-responsive genes through its interaction with an initiator element and estrogen receptor alpha. Genes Cells.2006; 11: 373–381.
21.
O'MahoneyJ.V.GuvenK.L.LinJ.JoyaJ.E.RobinsonC.S.WadeR.P.HardemanE.C.Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Mol Cell Biol.1998; 18: 6641–6652.
22.
PoberB.R.Williams-Beuren syndrome. N Engl J Med.2010; 362: 239–252.
23.
RingC.OgataS.MeekL.SongJ.OhtaT.MiyazonoK.ChoK.W.The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. Genes Dev.2002; 16: 820–835.
24.
RoyA.L.Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years later. Gene.2012; 492: 32–41.
25.
RoyA.L.DuH.GregorP.D.NovinaC.D.MartinezE.RoederR.G.Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. EMBO J.1997; 16: 7091–7104.
26.
TantinD.Tussie-LunaM.I.RoyA.L.SharpP.A.Regulation of immunoglobulin promoter activity by TFII-I class transcription factors. J Biol Chem.2004; 279: 5460–5469.
27.
TassabehjiM.HammondP.Karmiloff-SmithA.. GTF2IRD1 in craniofacial development of humans and mice. Science.2005; 310: 1184–1187.
28.
TürkmenS.Gillessen-KaesbachG.MeineckeP.. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Europ J Hum Genet.2003; 11: 858–865.
29.
VullhorstD.BuonannoA.Multiple GTF2I-like repeats of general transcription factor 3 exhibit DNA-binding properties: evidence for a common origin as a sequence- specific DNA interaction module. J Biol Chem.2005; 280: 31722–31731.
