Neuroscience perspective| Volume 50, ISSUE 12, P927-931, December 15, 2001

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The role of tissue-specific imprinting as a source of phenotypic heterogeneity in human disease

  • Lee S. Weinstein
    Address reprint requests to Dr. L. S. Weinstein, NIH, National Institute of Diabetes and Digestive and Kidney Diseases, Metabolic Diseases Branch, Building 10/Room 8C101, Bethesda MD 20892-1752 USA
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
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      Genomic imprinting is an epigenetic phenomenon affecting a small number of genes that leads to expression from only one parental allele. Several imprinted genes are important for neurologic development and function and several neurobehavioral disorders are caused by genetic defects involving imprinted genes. For some genes, the imprinting is tissue specific, leading to biallelic expression in some tissues and monoallelic expression in other tissues. Defects involving these genes may produce one restricted phenotype due to loss of expression of the gene product in tissues where the gene is imprinted and, in some instances, a second phenotype due to haploinsufficiency of the gene product in tissues where it is biallelically expressed.


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