Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

M. Mannens, J. M.N. Hoovers, E. Redeker, M. Verjaal, A. P. Feinberg, P. Little, M. Boavida, N. Coad, M. Steenman, J. Bliek, N. Niikawa, H. Tonoki, Y. Nakamura, E. G. de Boer, R. M. Slater, R. John, John Kenneth Cowell, C. Junien, I. Henry

Research output: Contribution to journalArticle

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Abstract

Cytogenetic and DNA analyses of patients of with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions. One chromosome region (BWSCR1) is near the insulin (INS) and insulin-like growth factor 2 (IGF2) genes. The other region (BWSCR2) is more proximal near two sequences with zinc-biding finger motifs and a number of known and putative genes. This later region, at least, seems to be associated with the development of childhood tumors. Our results strongly support the proposed involvement of parental imprinting in the etiology of BWS since all balanced chromosomal abnormalities in these patients were maternally transmitted while the mothers were phenotypically normal. We demonstrate that such an autosomal balanced rearrangement can lead to a specific maternal hypomethylation of the INS/IGF2 genes localized distal to the breakpoint. This underlines the role of these genes in the etiology of the syndrome.

Original languageEnglish (US)
Pages (from-to)3-23
Number of pages21
JournalEuropean Journal of Human Genetics
Volume2
Issue number1
DOIs
StatePublished - Jan 1 1994
Externally publishedYes

Fingerprint

Beckwith-Wiedemann Syndrome
Genomic Imprinting
Human Chromosomes
Somatomedins
Genes
Neoplasms
Mothers
Insulin
Cytogenetic Analysis
Zinc Fingers
Chromosome Aberrations
Chromosomes
DNA

Keywords

  • Beckwith-Wiedemann Syndrome
  • Childhood tumors
  • Imprinting
  • Methylation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. / Mannens, M.; Hoovers, J. M.N.; Redeker, E.; Verjaal, M.; Feinberg, A. P.; Little, P.; Boavida, M.; Coad, N.; Steenman, M.; Bliek, J.; Niikawa, N.; Tonoki, H.; Nakamura, Y.; de Boer, E. G.; Slater, R. M.; John, R.; Cowell, John Kenneth; Junien, C.; Henry, I.

In: European Journal of Human Genetics, Vol. 2, No. 1, 01.01.1994, p. 3-23.

Research output: Contribution to journalArticle

Mannens, M, Hoovers, JMN, Redeker, E, Verjaal, M, Feinberg, AP, Little, P, Boavida, M, Coad, N, Steenman, M, Bliek, J, Niikawa, N, Tonoki, H, Nakamura, Y, de Boer, EG, Slater, RM, John, R, Cowell, JK, Junien, C & Henry, I 1994, 'Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia', European Journal of Human Genetics, vol. 2, no. 1, pp. 3-23. https://doi.org/10.1159/000472337
Mannens, M. ; Hoovers, J. M.N. ; Redeker, E. ; Verjaal, M. ; Feinberg, A. P. ; Little, P. ; Boavida, M. ; Coad, N. ; Steenman, M. ; Bliek, J. ; Niikawa, N. ; Tonoki, H. ; Nakamura, Y. ; de Boer, E. G. ; Slater, R. M. ; John, R. ; Cowell, John Kenneth ; Junien, C. ; Henry, I. / Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. In: European Journal of Human Genetics. 1994 ; Vol. 2, No. 1. pp. 3-23.
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abstract = "Cytogenetic and DNA analyses of patients of with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions. One chromosome region (BWSCR1) is near the insulin (INS) and insulin-like growth factor 2 (IGF2) genes. The other region (BWSCR2) is more proximal near two sequences with zinc-biding finger motifs and a number of known and putative genes. This later region, at least, seems to be associated with the development of childhood tumors. Our results strongly support the proposed involvement of parental imprinting in the etiology of BWS since all balanced chromosomal abnormalities in these patients were maternally transmitted while the mothers were phenotypically normal. We demonstrate that such an autosomal balanced rearrangement can lead to a specific maternal hypomethylation of the INS/IGF2 genes localized distal to the breakpoint. This underlines the role of these genes in the etiology of the syndrome.",
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AU - Junien, C.

AU - Henry, I.

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AB - Cytogenetic and DNA analyses of patients of with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions. One chromosome region (BWSCR1) is near the insulin (INS) and insulin-like growth factor 2 (IGF2) genes. The other region (BWSCR2) is more proximal near two sequences with zinc-biding finger motifs and a number of known and putative genes. This later region, at least, seems to be associated with the development of childhood tumors. Our results strongly support the proposed involvement of parental imprinting in the etiology of BWS since all balanced chromosomal abnormalities in these patients were maternally transmitted while the mothers were phenotypically normal. We demonstrate that such an autosomal balanced rearrangement can lead to a specific maternal hypomethylation of the INS/IGF2 genes localized distal to the breakpoint. This underlines the role of these genes in the etiology of the syndrome.

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