Evolution of Imprinting: Imprinted Gene Function in Human Disease

Abstract

A subset of genes in mammals, known as imprinted genes, show a conditional expression strategy in which transcription depends on an allele's parental origin. Several explanations have been advanced to explain this phenomenon and these, with varying levels of success, predict the functions of imprinted genes. After outlining these explanations, we summarize what is known about human genetic disorders involving abnormal expression of imprinted genes and ask what this can tell us about the evolution of imprinting.

Keywords: imprinting; kinship; sexual conflict; human behaviour; growth disorders

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Tilghman SM (1999) The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96(2): 185–193.

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Dickins, Benjamin JA, and Kelsey, Gavin(Jul 2008) Evolution of Imprinting: Imprinted Gene Function in Human Disease. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0021014]