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The role of tissue-specific imprinting as a source of phenotypic heterogeneity in human disease
Authors:Lee S Weinstein  
Institution:

a Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA

Abstract: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.
Keywords:Genomic imprinting  uniparental disomy  DNA methylation  Prader-Willi syndrome  Angelman syndrome  pseudohypoparathyroidism
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