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Cell. 2019 Feb 21;176(5):952-965. doi: 10.1016/j.cell.2019.01.043.

Genomic Imprinting and Physiological Processes in Mammals.

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Department of Neuroscience and Brain Technologies - Istituto Italiano di Tecnologia, via Morego, 30, 16163, Genova, Italy. Electronic address:
MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, CF24 44H, UK.
Epigenetics Programme, Babraham Institute, Cambridge, CB22 3AT, UK; Centre for Trophoblast Research, University of Cambridge, Cambridge, CB2 3EG, UK.
Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK.


Complex multicellular organisms, such as mammals, express two complete sets of chromosomes per nucleus, combining the genetic material of both parents. However, epigenetic studies have demonstrated violations to this rule that are necessary for mammalian physiology; the most notable parental allele expression phenomenon is genomic imprinting. With the identification of endogenous imprinted genes, genomic imprinting became well-established as an epigenetic mechanism in which the expression pattern of a parental allele influences phenotypic expression. The expanding study of genomic imprinting is revealing a significant impact on brain functions and associated diseases. Here, we review key milestones in the field of imprinting and discuss mechanisms and systems in which imprinted genes exert a significant role.


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