Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat (original) (raw)

• Brown, W.T. The fragile X: progress towards solving the puzzle. Am. J. hum. Genet. 47, 175–180 (1990).
  CAS PubMed PubMed Central Google Scholar
• Sherman, S.L. et al. The marker (X) syndrome: a cytogenetic and genetic analysis. Ann. Hum. Genet. 48, 21–37 (1984).
  Article CAS PubMed Google Scholar
• Sherman, S.L. et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69, 289–299 (1985).
  Article CAS PubMed Google Scholar
• Lubs, J.A.,Jr. A marker X chromosome. Am. J. hum. Genet. 21, 231–244 (1969).
  CAS PubMed PubMed Central Google Scholar
• Verkerk, A.J.M.H. et al. 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 (1991).
  Article CAS PubMed Google Scholar
• Oberle, I. et al. Instability of a 550-base pair DNA segment and abnormal methylation in fargile X syndrome. Science 252, 1097–1102 (1991).
  Article CAS PubMed Google Scholar
• Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucieotide repeat sequence p(CGG)n. Science 252, 1711–1714 (1991).
  Article CAS PubMed Google Scholar
• Vincent, A. et al. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 349, 624–626 (1991).
  Article CAS PubMed Google Scholar
• Yu, S. et al. Fragile X genotype characterized by an unstable region of DNA. Science 24, 1179–1181 (1991).
  Article Google Scholar
• Fu, Y.H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047–1058 (1991).
  Article CAS PubMed Google Scholar
• Bell, M.V. et al. Physical mapping across the fragile X: hypermethylation and clinical expression of fragile X syndrome. Cell 64, 861–866 (1991).
  Article CAS PubMed Google Scholar
• Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817–822 (1991).
  Article CAS PubMed Google Scholar
• Sutcliffe, J.S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. molec. Genet. 1, 397–400 (1992).
  Article CAS PubMed Google Scholar
• Hinds, H.L. et al. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genet. 3: 36–43 (1993).
  Article CAS PubMed Google Scholar
• Harper, P.S., Harley, H.G., Reardon, W. & Shaw, D.J. Anticipation in myotonic dystrophy: new light on an old problem. Am. J. hum Genet. 51, 10–16 (1992).
  CAS PubMed PubMed Central Google Scholar
• Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucieotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799–808 (1992).
  Article CAS PubMed Google Scholar
• FU, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256–1258 (1992).
  Article CAS PubMed Google Scholar
• Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253–1255 (1992).
  Article CAS PubMed Google Scholar
• La spada, A.R. et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991).
  Article CAS PubMed Google Scholar
• The Huntington's Disease Collaborative research Group. A novel gene containing a trinucieotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971–983 (1993).
  Article Google Scholar
• Short, J.M., Fernandez, J.M., Sorge, J.A. & Huse, W.D. IZAP: a bacteriophage I expression vector with in vivo excision properties. Nucl. Acids Res. 16, 7583–7600 (1988).
  Article CAS PubMed PubMed Central Google Scholar
• Verkerk, A.J.M.H. et al. Alternative splicing in the fragile X (FMR-1) gene. Hum. molec. Genet. 2, 399–404 (1993).
  Article CAS PubMed Google Scholar
• Theil, E.C. Regulation of ferritin and transferrin receptor mRNAs. J. Biol. Chem. 265, 4771–4774 (1990).
  CAS PubMed Google Scholar
• Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl. Acids Res. 15, 8125–8148 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• Kozak, M. Leader length and secondary structure modulate mRNA function under conditions of stress. Molec. cell. Biol. 8, 2737–2744 (1988).
  Article CAS PubMed PubMed Central Google Scholar
• Kozak, M. Structural features in eukaryotic mRNAs that modulate the initiation of translation. J. biol. Chem. 266, 19867–19870 (1991).
  CAS PubMed Google Scholar
• Muller, A.J. & Witte, O.N. The 5′ noncoding region of the human leukemia-associated oncogene BCR/ABL is a potent inhibitor of in vitro translation. Molec. cell. Biol. 9, 5234–5238 (1989).
  Article CAS PubMed PubMed Central Google Scholar
• Godeau, F., Persson, H., Gray, H.E. & Pardee, A.B. c-myc expression is dissociated from DNA synthesis and cell division in Xenopus oocyte and early embryonic development. EMBO J. 5, 3571–3577 (1986).
  Article CAS PubMed PubMed Central Google Scholar
• Taylor, M.V.M., Gusse, M., Evan, G.I., Dathan, N. & Mechali, M. Xenopus myc proto-oncogene during development: expression as a stable maternal mRNA uncoupled from cell division. EMBO J. 5, 3563–3570 (1986).
  Article CAS PubMed PubMed Central Google Scholar
• Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular cloning: a laboratory manual 2nd edn (Cold Spring Harbor Press, New York, 1989).
  Google Scholar
• Kyte, J. & Doolittle, R.F. A simple method for displaying hydropathic character of a protein. J. molec. Biol. 157, 105–132 (1982).
  Article CAS PubMed Google Scholar
• Chomczynski, P. & Sacchi, N. Single step method of RNA isolation by acid quanidinium thiocyanate -phenol-chloroform extraction. Analyt. Biochem. 162, 156–159 (1987).
  Article CAS PubMed Google Scholar