Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome (original) (raw)

• Junien, C. Beckwith-Wiedemann syndrome, tumorigenesis and imprinting. Curr. Op. genet. Develop. 2, 431–438 (1992).
  Article CAS PubMed Google Scholar
• Pettenati, M.J. et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum. Genet. 124, 140–151 (1986).
  Google Scholar
• Wiedemann, H.R. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur. J. Pediatr. 14, 129 (1983).
  Article Google Scholar
• Waziri, M., Patil, S.R., Hanson, J.W. & Batrley. J.A. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J. Paed. 102, 873–876 (1983).
  Article CAS Google Scholar
• Turleau, C. et al. Trisomy 11p15 and Beckwith-Wiedemann syndrome: A report of two cases. Hum. Genet. 67, 219–221 (1984).
  Article CAS PubMed Google Scholar
• Okano, Y. et al. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: correlation of symptoms between 11 p trisomy and Beckwith-Wiedemann syndrome Jpn. J. hum. Genet 31, 365–372 (1986).
  CAS Google Scholar
• Pueschel, S.M. & Padre-Mendoza, T. Chromosome 11 and Beckwith-Wiedemann syndrome. J. Paed. 104, 484–485 (1984).
  Article CAS Google Scholar
• Niikawa, N. et al. The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am. J. med. Genet. 24, 41–45 (1986).
  Article CAS PubMed Google Scholar
• Moutou, C., Junien, C., Henry, I., Bonaiti-Pellie, C. Beckwith-Wiedemann syndrome: A demonstration of the mechanisms responsible for the excess of transmitting females. J. med. Genet. 29, 217–220 (1992).
  Article CAS PubMed PubMed Central Google Scholar
• Best, L.G. & Hoekstra, R.E. Wiedemann-Beckwith Syndrome: Autosomal-Dominant Inheritance in a Family. Am. J. hum. Genet. 9, 291–299 (1981).
  Article CAS Google Scholar
• Henry, I. et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351, 665–667 (1991).
  Article CAS PubMed Google Scholar
• Henry, I. et al. Somatic mosaicism for partial isodisomy in Weidemann-Beckwith syndrome: A post-fertilization event. Eur. J. hum. Genet. 1, 19–29 (1993).
  Article CAS PubMed Google Scholar
• Nystrom, A., Cheetham, J.E., Engstrom, W. & Schofield, P.N. Molecular analysis of patients with Weidemann-Beckwith syndrome II. Paternally derived disomies of chromosome 11. Eur. J. Pediatr. 151, 511–514 (1992).
  Article CAS PubMed Google Scholar
• Schneid, H., Vazquet, M.P., Seurin, D., Ie Bouc, Y . Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome. Growth Regulation 1, 168–170 (1991).
  CAS PubMed Google Scholar
• Ping, A.J. et al. Genetic Linkage of Beckwith-Weidemann Syndrome to 11p15. Am. J. hum. Genet. 44, 720–723 (1989).
  CAS PubMed PubMed Central Google Scholar
• Koufos, A. et al. Familial Wiedemann-Beckwith syndrome and a second Wilms tumour locus both map to 11 p15.5. Am. J. hum. Genet. 44, 711–719 (1989).
  CAS PubMed PubMed Central Google Scholar
• Weksberg, R. et al. Molecular characterization of Beckwith-Weidemann Syndrome (BWS) patients with partial duplication of 11 p excludes the gene MYOD1 from the BWS region. Genomics 8, 693–698 (1990).
  Article CAS PubMed Google Scholar
• Henry, I. et al. Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum. Genet. 81, 273–277 (1989).
  Article CAS PubMed Google Scholar
• Mannens, M. et al. Characterization of breakpoints associated with the Beckwith-Wiedemann syndrome and aniridia. Evidence for involvement of genomic imprinting in the Beckwith-Wiedemann syndrome. Eur. J. hum. Genet. (in the press).
• Weksberg, R. et al. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum. molec. Genet. 2, 549–556 (1993).
  Article CAS PubMed Google Scholar
• Humbel, R. Insulin-like growth factors I and II. Euro. J. Biochem. 190, 445–462 (1990).
  Article CAS Google Scholar
• Gray, A. et al. Tissue-specific and developmentally regulated transcription of the insulin-like growth factor 2 gene. DNA 6, 283–295 (1987).
  Article CAS PubMed Google Scholar
• Bell, G.I., Gerhard, D.S., Fong, N.M., Sanchez-Pescador, R. & Rall, L.B. Isolation of the human insulin-like growth factor genes: insulin like growth factor II and insulin genes are contiguous. Proc. natn. Acad. Sci. U.S.A. 82, 6450–6454 (1985).
  Article CAS Google Scholar
• Reeve, A., Eccles, M., Wilkins, R., Bell, G. & Millow, L. Expression of insulin-like growth factor-ll transcripts in Wilms' tumour. Nature 317, 258–260 (1985).
  Article CAS PubMed Google Scholar
• Scott, J. et al. Insulin-like growth factor-ll gene expression in Wilms' tumour and embryonic tissues. Nature 317, 260–262 (1985).
  Article CAS PubMed Google Scholar
• DeChiara, T.M., Robertson, E.J. & Efstratiadias, A. Parental Imprinting of the Mouse Insulin-like Growth Factor II Gene. Cell 64, 849–859 (1991).
  Article CAS PubMed Google Scholar
• Giannoukakis, N., Deal, C., Pacquette, J., Goodyer, C. & Polychronakos, C. Parental genomic imprinting of the human IGF2 gene. Nature Genet. 4, 98–101 (1993).
  Article CAS PubMed Google Scholar
• Ohlsson, R. et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Weidemann syndrome. Nature Genet. 4, 94–97 (1993).
  Article CAS PubMed Google Scholar
• Ferguson-Smith, A.C., Cattanach, B.M., Barton, S.C., Beechey, C.V., Surani, M.A. Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351, 667–670 (1991).
  Article CAS PubMed Google Scholar
• Ogawa, O. et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362, 749–751 (1993).
  Article CAS PubMed Google Scholar
• Rainier, S. et al. Relaxation of imprinted genes in human cancer. Nature 362, 747–749 (1993).
  Article CAS PubMed Google Scholar
• Little, M., Van Heyningen, V. & Hastie, N. Dads & disomy and disease. Nature 351, 609–610 (1991).
  Article CAS PubMed Google Scholar
• Tadokoro, K., Fugii, H., Inoue, T. & Yamada, M. Polymerase chain reaction (PCR) for detection of Apa1 polymorphism at the insulin like growth factor II gene (IGF2). Nuc. Acids Res. 19, 6967 (1991).
  Article CAS Google Scholar
• Sasaki, H. et al. Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Genes Dev. 6, 1843–1856 (1992).
  Article CAS PubMed Google Scholar
• Zhang, Y. & Tycko, B. Monoallelic expression of the human H_19_ gene. Nature Genet. 1, 40–44 (1992).
  Article CAS PubMed Google Scholar
• Mannens, M. et al. Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. Hum. Genet 81, 41–48 (1988).
  Article CAS PubMed Google Scholar
• Williams, J.C., Brown, K.W., Mott, M.G., Maitland, N.J. Maternal allele loss in Wilms tumour. Lancet 1, 283–84 (1989).
  Article CAS PubMed Google Scholar
• Coppes, M.J. et al. Loss of heterozygosity mapping in Wilms tumour indicates the involvement of three distinct regions and a limited role for non-disjunction or mitotic recombination. Genes Chrom. Can. 5, 326–334 (1992).
  Article CAS Google Scholar
• Norman, A.M., Read, A.P., Clayton-Smith, J., Andrews, T., Donnai, D. Recurrent Wiedemann-Beckwith-syndrome with inversion of chromosome (11)(p11.2;p15.5). Am. J. med. Genet 42, 638–641 (1992).
  Article CAS PubMed Google Scholar
• Cole, M., myc Oncogene: Its Role in Transformation and Differentiation. Ann. Rev. Genet. 20, 361–384 (1988).
  Article Google Scholar
• Chao, L-Y. et al. Genetic mosaicism in normal tissues of Wilms' tumour patients. Nature Genet. 3, 127–131 (1993).
  Article CAS PubMed Google Scholar
• Zemel, S., Bartolomei, M.S., Tilghman, S.M. Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2. Nature Genet. 2, 61–65 (1992).
  Article CAS PubMed Google Scholar
• Ferguson-Smith, A., Sasaki, H., Cattanach, B. & Surani, A. Parental-origin-specific epigenetic modification of the mouse H_19_gene. Nature 362, 751–755 (1993).
  Article CAS PubMed Google Scholar
• Stoger, R. et al. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73, 61–71 (1993).
  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
• Frohman, M.A., Dush, M.K. & Martin, G.R. Rapid Production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleottide primer. Proc. natn. Acad. Sci. U.S.A. 85, 8998 (1987).
  Article Google Scholar
• Hoban, P.R. & Kelsey, A.M. Pstl polymorphism within the 3′ untranslated region of the insulin gene detectable by the polymerase chain reaction. Nucl. Acids Res. 19, 4576 (1991).
  Article CAS PubMed PubMed Central Google Scholar
• Edwards, A., Civitello, A., Hammond, H.A. & Caskey, T.A. DNA Typing and Genetic Mapping with Trimeric and Tetrameric Tandem Repeats. Am. J. hum. Genet. 49, 746–756 (1991).
  CAS PubMed PubMed Central Google Scholar