Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development

Cleft Palate-Craniofacial Journal

Volumn 48, Issue 1, 2011, Pages 109-116

  Makeyev, Aleksandr V ^a   Bayarsaihan, Dashzeveg ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

Cfdp1 CP27; Craniofacial development; Embryonic expression; Gtf2i; Gtf2ird1; Nsd1; Sec23a; TFII I; Transcription factors; Williams Beuren syndrome

Indexed keywords

PROTEIN; PROTEIN CFDP1; PROTEIN NSD1; PROTEIN SEC23A; TRANSCRIPTION FACTOR II; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; FACE DYSMORPHIA; GENE CONTROL; GENE TARGETING; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; TRANSCRIPTION REGULATION; WILLIAMS BEUREN SYNDROME;

ABNORMALITIES, MULTIPLE; ANIMALS; CARRIER PROTEINS; CHROMATIN IMMUNOPRECIPITATION; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EMBRYONIC DEVELOPMENT; GENE EXPRESSION PROFILING; MICE; MICROARRAY ANALYSIS; MUSCLE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS, TFII; VESICULAR TRANSPORT PROTEINS; WILLIAMS SYNDROME;

EID: 79551546730     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/09-093     Document Type: Article

References (52)

1. Bayarsaihan D, Ruddle FH. 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.
2. Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet. 2004;74:715-720.
3. Bayarsaihan D, Dunai J, Greally JM, Kawasaki K, Sumiyama K, Enkhmandakh B, Shimizu N, Ruddle FH. Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. Genomics. 2002;79:137-143.
4. Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003;73:131-151.
5. Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet. 2003;113:1-9.
6. Chimge NO, Mungunsukh O, Ruddle F, Bayarsaihan D. Expression profiling of BEN regulated genes in mouse embryonic fibroblasts. J Exp Zool. 2007a;308:209-224. (Pubitemid 46847584)
7. Chimge NO, Mungunsukh O, Ruddle F, Bayarsaihan D. Gene expression analysis of TFII-I modulated genes in mouse embryonic fibroblasts. J Exp Zool. 2007b;308:225-235. (Pubitemid 46847585)
8. Chimge NO, Makeyev AV, Ruddle FH, Bayarsaihan D. Identification of the TFII-I family target genes in the vertebrate genome. Proc Natl Acad Sci U S A. 2008;106:9006-9010.
9. Crusselle-Davis VJ, Zhou Z, Anantharaman A, Moghimi B, Dodev T, Huang S, Bungert J. Recruitment of coregulator complexes to the beta-globin gene locus by TFII-I and upstream stimulatory factor. FEBS J. 2007;274:6065-6073.
10. Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Järvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, et al. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A. 2009;149:302-314.
11. Diekwisch TGH, Luan X. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Gene. 2002;287:141-147. (Pubitemid 34454804)
12. Diekwisch TGH, Marches F, Williams A, Luan X. Cloning, gene expression, and characterization of CP27, a novel gene in mouse embryogenesis. Gene. 1999;235:19-30.
13. Enkhmandakh E, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge NO, Tussie-Luna MI, Roy A, Bayarsaihan D. 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.
14. Era T, Witte ON. Regulated expression of P210 Bcr-Abl during embryonic stem cell differentiation stimulates multipotential progenitor expansion and myeloid cell fate. Proc Natl Acad Sci U S A. 2000;97:1737-1742.
15. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet. 1993;5:11-16.
16. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8:1947-1954.
17. Grimm T, Wesselhoeft H. Zur Genetik des Williams-Beuren-Syndroms und der isolierten Form der supravalvulaeren Aortenstenose (Untersuchungen von 128 Familien). Z Kardiol. 1980;69:168-172.
18. Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. J Biol Chem. 2003;278:7234-7239.
19. Järvinen-Pasley A, Bellugi U, Reilly J, Mills DL, Galaburda A, Reiss AL, Korenberg JR. Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior. Dev Psychopathol. 2008;20:1-35.
20. Jones KL, Smith DW. The Williams elfin facies syndrome. A new perspective. J Pediatr. 1975;86:718-723.
21. Kant SG, Wit JM, Breuning MH. Genetic analysis of tall stature. Horm Res. 2005;64:149-156.
22. Kelly JR, Barr ES. The elfin facies syndrome. Oral Surg Oral Med Oral Pathol. 1975;40:205-218.
23. Ku M, Sokol SY, Wu J, Tussie-Luna MI, Roy AL, Hata A. 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;25:7144-7157.
24. Lang MR, Lapierre LA, Frotscher M, Goldenring JR, Knapik EW. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nature Genet. 2006;38:1198-1203.
25. Leach KM, Vieira KF, Kang SH, Aslanian A, Teichmann M, Roeder RG, Bungert J. Characterization of the human beta-globin downstream promoter region. Nucleic Acids Res. 2003;31:1292-1301.
26. Linton LR, Harder LD. Biology 315 - Quantitative Biology Lecture Notes. Calgary, AB: University of Calgary; 2007.
27. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 2001;25:402-408. (Pubitemid 34164012)
28. Luan X, Diekwisch TG. CP27 affects viability, proliferation, attachment and gene expression in embryonic fibroblasts. Cell Prolif. 2002;35:207-219.
29. Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet. 1995;96:444-448.
30. Mass E, Belostoky L. Craniofacial morphology of children with Williams syndrome. Cleft Palate Craniofac J. 1993;30:343-349.
31. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-484.
32. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995;56:1156-1161.
33. Ohazama A, Sharpe PT. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Dev Dyn. 2007;236:2884-2888.
34. Osborne LR. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol Genet Metab. 1999;67:1-10.
35. Osborne LR, Martindale D, Scherer SW, Shi X-M, Huizenga J, Heng HHQ, Costa T, Pober B, Lew L, Brinkman J, et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996;36:328-336.
36. Perez Jurado AL. Williams-Beuren syndrome: a model of recurrent genomic mutation. Horm Res. 2003;1:106-113.
37. Polly P, Haddadi LM, Issa LL, Subramaniam N, Palmer SJ, Tay ES, Hardeman EC. hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. J Biol Chem. 2003;278:36603-36610.
38. Rajaiya J, Nixon JC, Ayers N, Desgranges ZP, Roy AL, Webb CF. Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. Mol Cell Biol. 2006;26:4758-4768.
39. Ring C, Ogata S, Meek L, Song J, Ohta T, Miyazono K, Cho KW. 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.
40. Roy AL. Biochemistry and biology of the inducible multifunctional transcription factor TFII-I. Gene. 2001;274:1-13.
41. Roy AL. Signal-induced functions of the transcription factor TFII-I. Biochim Biophys Acta. 2007;1769:613-621.
42. Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG. Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. EMBO J. 1997;16:7091-7104.
43. Suzuki Y, Yamashita R, Sugano S, Nakai K. DBTSS, database of transcriptional start sites: progress report 2004. Nucleic Acids Res. 2004;32:D78-D81.
44. Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003;12:229-237.
45. Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, et al. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005;310:1184-1187.
46. Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, et al. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet. 2003;11:858-865.
47. Tussie-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL. Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta. Proc Natl Acad Sci U S A. 2002a;99:12807-12812.
48. Tussie-Luna MI, Michel B, Hakre S, Roy AL. The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I. J Biol Chem. 2002b;277:43185-43193.
49. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59:958-962.
50. Valero MC, de Luis O, Cruces J, Perez Jurado LA. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome arose at breakpoint sites of an evolutionary inversion(s). Genomics. 2000;69:1-13.
51. Vullhorst D, Buonanno A. 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.
52. Wen YD, Cress WD, Roy AL, Seto E. Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I. J Biol Chem. 2003;278:1841-1847. (Pubitemid 36801422)