Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

Human Molecular Genetics

Volumn 13, Issue 5, 2004, Pages 543-549

  Beilina, Alexandra ^a   Tassone, Flora ^a   Schwartz, Phillip H ^b   Sahota, Parminder ^a   Hagerman, Paul J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE; MESSENGER RNA; RNA LIGASE; TRINUCLEOTIDE;

ALLELE; ARTICLE; ASTROCYTE; CONTROLLED STUDY; ENHANCER REGION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; NERVE CELL; PRIORITY JOURNAL; PROMOTER REGION; RNA ANALYSIS; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION REGULATION; TRINUCLEOTIDE REPEAT;

BASE SEQUENCE; BLOTTING, SOUTHERN; CELL LINE; DNA PRIMERS; FRAGILE X MENTAL RETARDATION PROTEIN; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PROMOTER REGIONS (GENETICS); RNA, MESSENGER; RNA-BINDING PROTEINS; TRANSCRIPTION FACTORS; TRANSCRIPTION INITIATION SITE; TRANSFORMATION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 1542359463     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh053     Document Type: Article

References (32)

1. Pieretti, M., Zhang, F.P., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
2. Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.P. and Mandel, J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet., 4, 335-340.
3. Verheij, C., Bakker, C.E., de Graaff, E., Keulemans, J., Willemsen, R., Verkerk, A.J., Galjaard, H., Reuser, A.J., Hoogeveen, A.T. and Oostra, B.A. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature, 363, 722-724.
4. Hagerman, P.J. (2002) Gene expression and molecular approaches to therapy. In Hagerman, R.J. and Hagerman, P.J. (eds), Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd edn. The Johns Hopkins University Press, Baltimore, MD, pp. 465-494.
5. Drouin, R., Angers, M., Dallaire, N., Rose, T.M., Khandjian, W. and Rousseau, F. (1997) Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region. Hum. Mol. Genet., 6, 2051-2060.
6. Hwu, W.L., Lee, Y.M., Lee, S.C. and Wang, T.R. (1993) In vitro DNA methylation inhibits FMR-1 promoter. Biochem. Biophys. Res. Commun., 193, 324-329.
7. Kumari, D. and Usdin, K. (2001) Interaction of the transcription factors USF1, USF2, and (alpha)-PAL/Nrf-1 with the FMR1 promoter. J. Biol. Chem., 276, 4357-4364.
8. Schwemmle, S., de Graaff, E., Deissler, H., Glaser, D., Wohrle, D., Kennerknecht, I., Just, W., Oostra, B.A., Dorfler, W., Vogel, W. et al. (1997) Characterization of FMR1 promoter elements by in vivo-footprinting analysis. Am. J. Hum. Genet., 60, 1354-1362.
9. Tassone, F., Hagerman, R.J., Chamberlain, W.D. and Hagerman, P.J. (2000) Transcription of the FMR1 gene in individuals with fragile X syndrome. Am. J. Med. Genet. (Semin. Med. Genet.), 97, 195-203.
10. Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E. and Hagerman, P.J. (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in fragile X syndrome. Am. J. Hum. Genet., 66, 6-15.
11. Kenneson, A., Zhang, F., Hagedorn, C.H. and Warren, S.T. (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet., 10, 1449-1454.
12. Primerano, B., Tassone, F., Hagerman, R.J., Hagerman, P., Amaldi, F. and Bagni, C. (2002) Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA, 8, 1482-1488.
13. Volloch, V., Schweitzer, B. and Rits, S. (1994) Ligation-mediated amplification of RNA from murine erythroid cells reveals a novel class of beta globin mRNA with an extended 5′-untranslated region. Nucl. Acids Res., 22, 2507-2511.
14. Suzuki, Y., Yoshitomo-Nakagawa, K., Maruyama, K., Suyama, A. and Sugano, S. (1997) Construction and characterization of a full length-enriched and a 5′-end-enriched cDNA library. Gene, 200, 149-156.
15. Niikura, M., Dornadula, G., Zhang, H., Mukhtar, M., Lingxun, D., Khalili, K., Bagasra, O. and Pomerantz, R.J. (1996) Mechanisms of transcriptional transactivation and restriction of human immunodeficiency virus type I replication in an astrocytic glial cell. Oncogene, 13, 313-322.
16. Schwartz, P.H., Bryant, P.J., Fuja, T.J., Su, H., O'Dowd, D.K. and Klassen, H. (2003) Isolation and characterization of neural progenitor cells from post-mortem human cortex. J. Neurosci. Res., 74, 838-851.
17. Kawai, Y., Asai, K., Miura, Y., Inoue, Y., Yamamoto, M., Moriyama, A., Yamamoto, N. and Kato, T. (2003) Structure and promoter activity of the human glia maturation factor-gamma gene: a TATA-less, GC-rich and bidirectional promoter. Biochim. Biophys. Acta, 1625, 246-252.
18. Weis, L. and Reinberg, D. (1992) Transcription by RNA polymerase II: initiator-directed formation of transcription-competent complexes. FASEB J., 6, 3300-3309.
19. Javahery, R., Khachi, A., Lo, K., Zenzie-Gregory, B. and Smale, S.T. (1994) DNA sequence requirements for transcriptional initiator activity in mammalian cells. Mol. Cell. Biol., 14, 116-127.
20. Chow, C.W., Clark, M.P., Rinaldo, J.E. and Chalkley, R. (1995) Multiple initiators and C/EBP binding sites are involved in transcription from the TATA-less rat XDH/XO basal promoter. Nucl. Acids Res., 23, 3132-3140.
21. Roy, A.L., Meisterernst, M., Pognonec, P. and Roeder, R.G. (1991) Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF. Nature, 354, 245-248.
22. Du, H., Roy, A.L. and Roeder, R.G. (1993) Human transcription factor USF stimulates transcription through the initiator elements of the HIV-1 and the Ad-ML promoters. EMBO J., 12, 501-511.
23. Clark, M.P., Chow, C.W., Rinaldo, J.E. and Chalkley, R. (1998) Correct usage of multiple transcription initiation sites and C/EBP-dependent transcription activation of the rat XDH/XO TATA-less promoter requires downstream elements located in the coding region of the gene. Nucl. Acids Res., 26, 1801-1806.
24. Wang, Y.H., Gellibolian, R., Shimizu, M., Wells, R.D. and Griffith, J. (1996) Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes. J. Mol. Biol., 263, 511-516.
25. Godde, J.S., Kass, S.U., Hirst, M.C. and Wolffe, A.P. (1996) Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter. J. Biol. Chem., 271, 24325-24328.
26. n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect. BMC Mol. Biol., 4, 3.
27. n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet., 12, 3067-3074.
28. Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B. and Hagerman, P.J. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130.
29. Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771.
30. Jacquemont, S., Hagerman, R.J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J.A., Greco, C., Des Portes, V., Jardini, T., Levine, R. et al. (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet., 72, 869-878.
31. Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick, R.G., Jr., Warren, S.T. 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.
32. Tassone, F. and Hagerman, P.J. (2003) Expression of the FMR1 gene. Cytogenet. Genome Res., 100, 124-128.