Characterization of FMR1 promoter elements by in vivo-footprinting analysis

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1354-1362

  Schwemmle, Sabine ^a   De Graaff, Esther ^b   Deissler, Heidrun ^c   Gläser, Dieter ^a   Wöhrle, Doris ^a   Kennerknecht, Ingo ^a   Just, Walter ^a   Oostra, Ben A ^b   Dörfler, Walter ^c   Vogel, Walther ^a   Steinbach, Peter ^a  

^a UNIVERSITY OF ULM   (Germany)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE DERIVATIVE; TRANSCRIPTION FACTOR;

ARTICLE; BINDING SITE; DNA FOOTPRINTING; DNA METHYLATION; DNA STRAND; FRAGILE X SYNDROME; GENE CONTROL; GENE REPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN DNA INTERACTION; PROTEIN METHYLATION; SEQUENCE ANALYSIS; SILENCER GENE; TRANSCRIPTION REGULATION;

EID: 16944362592     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515456     Document Type: Article

References (36)

1. Ariga H, Imamura Y, Iguchi-Ariga SM (1989) DNA replication origin and transcriptional enhancer in c-myc gene share the c-myc protein binding sequences. EMBO J 8: 4273-4279
2. Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, Jacobs PA, et al (1991) Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 64:861-866
3. Blackwell TK, Kretzner L, Blackwood EM, Eisenman RN, Weintraub H (1990) Sequence-specific DNA binding by the c-Myc protein. Science 250:1149-1151
4. Blackwood EM, Eisenman RN (1991) Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. Science 251:1211-1217
5. Chan JY, Han XL, Kan YW (1993a) Cloning of Nrf1, an NF-E2 related transcription factor, by genetic selection in yeast. Proc Natl Acad Sci USA 90:11371-11375
6. _ (1993b) Isolation of the cDNA encoding the human NF-E2 protein. Proc Natl Acad Sci USA 90:11366-11371
7. Dang CV, Barrett J, Villa-Garcia M, Resar LMS, Kato GJ, Fearon ER (1991) Intracellular leucine zipper interactions suggest c-Myc hetero-oligomerization. Mol Cell Biol 11: 954-962
8. De Graaff E, Willemsen R, Zhong N, de Die-Smulders CEM, Brown WT, Freling G, Oostra B (1995) Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. Am J Hum Genet 57: 609-618
9. Ehrlich M, Ehrlich KC (1993) Effect of DNA methylation on the binding of vertebrate and plant proteins to DNA. In: Jost JP, Saluz HP (eds) DNA methylation: molecular biology and biological significance. Birkhäuser Verlag, Basel, Boston, Berlin, pp 145-168
10. Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6-13
11. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe J, Richards S, Verkerk AJMH, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
12. Graessmann M, Graessmann A (1993) DNA methylation, chromatin structure, and the regulation of gene expression. In: Jost JP, Saluz HP (eds) DNA methylation: molecular biology and biological significance. Birkhäuser Verlag, Basel, Boston, Berlin, pp 404-424
13. Hansen RS, Gartler SU, Scott CR, Chen SH, Laird CD (1992) Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet 1:571-578
14. Harrington MA, Jones PA, Imagawa M, Karin M (1988) Cytosine methylation does not affect binding of transcription factor Sp1. Proc Natl Acad Sci USA 85:2066-2070
15. Hegersberg M, Matsuo K, Gassmann M, Schaffner W, Lüscher B, Rülicke T, Aguzzi A, et al (1995) Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. Hum Mol Genet 4:359-366
16. Höller M, Westin G, Jiricny J, Schaffner W (1988) Sp1 transcription factor binds DNA and activates transcription even when the binding site is CpG methylated. Genes Dev 2: 1127-1135
17. Hornstra IK, Nelson DL, Warren ST, Yang TP (1993) High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet 2:1659-1665
18. Hwu WL, Lee YM, Lee SC, Wang TR (1993) In vitro DNA methylation inhibits FMR-1 promoter. Biochem Biophys Res Commun 193:324-329
19. Jacob WF, Silverman TA, Cohen RB, Safer B (1989) Identification and characterization of a novel transcription factor participating in the expression of eukaryotic initiation factor 2α. J Biol Chem 264:20372-20384
20. La Thangue NB, Rigby PWJ (1988) Trans-acting protein factors and the regulation of eukaryotic transcription. In: Hames B, Glover D (eds) Transcription and splicing. IRL Press, Oxford, pp 3-42
21. Latchman DS (1991) Eukaryotic transcription factors. Academic Press, London
22. Mueller PR, Wold B (1989) In vivo footprinting of a muscle specific enhancer by ligation mediated PCR. Science 246: 780-786
23. Nakahori Y, Knight SJL, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, et al (1991) Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res 19:4355-4359
24. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, et al (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
25. Pfeifer GP, Riggs AD (1993) Genomic sequencing. In: Griffin H, Griffin A (eds) Methods in molecular biology. Vol 23: DNA sequencing protocols. Humana Press, Totowa, NJ, pp 169-181
26. Pfeifer GP, Steigerwald SD, Mueller PR, Wold B, Riggs AD (1989) Genomic sequencing and methylation analysis by Iigation mediated PCR. Science 246:810-813
27. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-822
28. Richards RI, Holman K, Yu S, Sutherland GR (1993) Fragile X syndrome unstable element, p(CGG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Hum Mol Genet 2:1429-1435
29. Smeets HJM, Smits APT, Verheij CE, Theelen JPG, Willemsen R, van de Burgt I, Hoogeven AT, et al (1995) Normal phenotype in two brothers with full FMR1 mutation. Hum Mol Genet 4:2103-2108
30. Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, et al (1993) Molecular analysis of mutations in the FMR-1 segregating in fragile X families. Hum Genet 92:491-498
31. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1: 397-400
32. Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, et al (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363:722-724
33. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
34. Vincent A, Heitz D, Petit C, Kretz C, Oberlé I, Mandel JL (1991) Abnormal pattern detected in fragile X patients by pulsed field gel electrophoresis. Nature 349:624-626
35. Wasylyk B (1988) Enhancers and transcription factors in the control of gene expression. Biochim Biophys Acta 951:17-35
36. Zhong N, Curley D, Dobkin C, Brown WT (1995) Determination of transcription factors binding to the FMR1 promoter region. Am J Hum Genet Suppl 57:A155