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Imprinting evolution and human health

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Abstract

Genomic imprinting results in parent-of-origin-dependent, monoallelic expression of genes. The functional haploid state of these genes has far-reaching consequences. Not only has imprinting been implicated in accelerating mammalian speciation, there is growing evidence that it is also involved in the pathogenesis of several human conditions, particularly cancer and neurological disorders. Epigenetic regulatory mechanisms govern the parental allele-specific silencing of imprinted genes, and many theories have attempted to explain the driving force for the evolution of this unique form of gene control. This review discusses the evolution of imprinting in Therian mammals, and the importance of imprinted genes in human health and disease.

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Acknowledgments

This work was supported by the NIH grant 5R01-ES008823, DOE DE-FG02-05ER64101, and an Esther B. O’Keeffe Charitable Foundation Award. The authors declare no competing financial interests.

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Authors and Affiliations

  1. Department of Radiation Oncology, Duke University Medical Center, Durham, NC, 27710, USA

    Radhika Das

  2. University Program in Genetics and Genomics, Duke University Medical Center, Durham, NC, 27710, USA

    Radhika Das & Randy L. Jirtle

  3. Department of Gastroenterology, Duke University Medical Center, Durham, NC, 27710, USA

    Daniel D. Hampton

  4. Department of Radiation Oncology, Duke University Medical Center, P. O Box 3433, Durham, NC, 27710, USA

    Randy L. Jirtle

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Das, R., Hampton, D.D. & Jirtle, R.L. Imprinting evolution and human health. Mamm Genome 20, 563–572 (2009). https://doi.org/10.1007/s00335-009-9229-y

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