Abstract
We have examined insulin-like growth factor 1 receptor (IGF1R) gene expression for evidence of imprinting in 15 informative patients with embryonal tumours. Biallelic expression was observed in all but one sample of normal juvenile kidney and liver, and in 9/10 associated Wilms' tumours, 3/3 hepatoblastomas and 2/2 adrenal tumours. A single patient with Beckwith-Wiedemann Syndrome (BWS) demonstrated monoallelic expression of the maternally derived IGF1R allele in normal kidney, associated Wilms' tumour and in peripheral blood lymphocytes. The observed biallelic expression of the IGF1R gene in all but one patient strongly suggests that the human gene is not normally imprinted.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Gland Neoplasms / genetics
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Adrenal Gland Neoplasms / metabolism
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Adrenal Glands / metabolism*
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Alleles*
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Animals
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Base Sequence
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Beckwith-Wiedemann Syndrome / genetics
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Beckwith-Wiedemann Syndrome / metabolism
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Child
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DNA Primers
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Female
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Gene Expression*
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Genotype
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Hepatoblastoma / genetics
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Hepatoblastoma / metabolism
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Humans
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Kidney / metabolism*
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Kidney Neoplasms / genetics
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Kidney Neoplasms / metabolism
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Liver / metabolism*
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Liver Neoplasms / genetics
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Liver Neoplasms / metabolism
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Male
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Mice
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Molecular Sequence Data
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Neoplasms / genetics
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Neoplasms / metabolism*
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Organ Specificity
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Genetic*
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Receptor, IGF Type 1 / biosynthesis*
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Receptor, IGF Type 1 / genetics*
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Reference Values
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Repetitive Sequences, Nucleic Acid
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Wilms Tumor / genetics
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Wilms Tumor / metabolism
Substances
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DNA Primers
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Receptor, IGF Type 1