Identification of New Human Imprinted Genes: A Novel Approach

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"Imprinted" genes are critical for normal human growth and development. Almost all of our genes occur in pairs, with one copy of each gene pair inherited from our mother (maternal) and the other from our father (paternal). For the vast majority of our gene pairs, the copy inherited from each parent is expressed equally. However, imprinted genes are expressed in a parent of origin-specific manner. That is, the genes are transcribed (read) from either the maternal or paternal copy, not both, and the expression of these genes may differ in specific tissues. The mechanism by which this special type of transcription is achieved is termed epigenetic. Epigenetic marks, such as DNA methylation, essentially silence the gene by making it inaccessible to the transcription machinery in the cell. Imprinted genes typically have opposite epigenetic marks on the two parental genes in the pair, one methylated (silenced) and the other not methylated (transcribed). This is called differential DNA methylation.