Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma (original) (raw)

Abstract

The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5′ end. Using methylation-sensitive restriction enzymes, we have investigated the methylation status of this island in 21 sporadic unilateral retinoblastomas and 30 hereditary retinoblastomas. Three sporadic unilateral tumors were found to have hypermethylated RB1 alleles. In two tumors, the paternal allele was methylated, whereas the maternal allele had been lost. Cultured cells from one of these tumors were studied by the reverse transcription polymerase chain reaction and found to have a reduced level of RB1 mRNA. The third tumor had retained constitutional heterozygosity, and the paternal allele was specifically methylated. The combined data from previously published reports and from this study show that hypermethylation of the RB1 gene occurs in 13% of sporadic unilateral tumors and may reduce gene activity.

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Author notes

1. Valerie Greger
   Present address: Howard Hughes Medical Institute and Genetics Division, Harvard Medical School, Boston, MA, 02115

Authors and Affiliations

1. Institut für Humangenetik, Universitätsklinikum Essen, D-45122, Essen, Germany
   Valerie Greger, Nils Debus, Dietmar Lohmann, Eberhard Passarge & Bernhard Horsthemke
2. Institut für Zellbiologie (Tumorforschung), Universitätsklinikum Essen, D-45122, Essen, Germany
   Nils Debus
3. Zentrum für Augenheilkunde, Universitätsklinikum Essen, D-45122, Essen, Germany
   Wolfgang Höpping

Authors

1. Valerie Greger
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2. Nils Debus
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3. Dietmar Lohmann
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4. Wolfgang Höpping
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5. Eberhard Passarge
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6. Bernhard Horsthemke
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On leave of absence from Max-Delbrück-Centrum für Molekulare Medizin, D-13125 Berlin, Germany

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Greger, V., Debus, N., Lohmann, D. et al. Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.Hum Genet 94, 491–496 (1994). https://doi.org/10.1007/BF00211013

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• Received: 06 May 1994
• Revised: 25 May 1994
• Issue Date: November 1994
• DOI: https://doi.org/10.1007/BF00211013

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