Abstract
This chapter discusses genomic imprinting in humans, which is a recently recognized phenomenon. It has already been implicated in a number of developmental and pathological processes. However, it is still unclear in terms of its functions in normal development, although there is evidence that some imprinted genes are important in growth. Imprinting shares a key property with mammalian X inactivation in that it results in the transcription of only one of two identical gene sequences in a given cell. Unlike eutherian X inactivation, it can be leaky and, on occasion, reactivated. Mendelian genetics is simple and straightforward, but it frequently does not adequately explain complicating factors such as variable expressivity and penetrance. Learning why mammals have genomic imprinting and learning the mechanisms of its regulation help to understand the pathogenesis of a number of birth defects, genetic diseases, and cancers.
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