4.7 Article

The landscape of genomic imprinting across diverse adult human tissues

Journal

GENOME RESEARCH
Volume 25, Issue 7, Pages 927-936

Publisher

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.192278.115

Keywords

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Funding

  1. National Institutes of Health [1K25HL121295-01A1, HHSN26820100029C, R01MH101814, 1R01HL124285-01, 1R01GM110251-01]
  2. Edmond J. Safra Center for Bioinformatics at Tel-Aviv University
  3. Israel Science Foundation [989/08]
  4. German-Israeli Foundation [1094-33.2/2010]
  5. Binational Science Foundation [2012304]
  6. Hewlett-Packard Stanford Graduate Fellowship
  7. Natural Science and Engineering Research Council of Canada
  8. Clarendon Scholarship
  9. NDM Studentship
  10. Green Templeton College Award from the University of Oxford
  11. Finnish Cultural Foundation
  12. Orion-Farmos Research Foundation
  13. Emil Aaltonen Foundation
  14. Common Fund of the Office of the Director of the National Institutes of Health
  15. National Cancer Institute (NCI)
  16. National Human Genome Research Institute (NHGRI)
  17. National Heart, Lung, and Blood Institute (NHLBI)
  18. National Institute on Drug Abuse (NIDA)
  19. National Institute of Mental Health (NIMH)
  20. National Institute of Neurological Disorders and Stroke (NINDS)
  21. NCI \ SAIC-Frederick, Inc. (SAIC-F) [10XS170, 10XS171, X10S172]
  22. SAIC-F [10ST1035]
  23. University of Miami grant [DA006227]
  24. University of Geneva [MH090941]
  25. University of Chicago [MH090951, MH090937]
  26. University of North Carolina-Chapel Hill [MH090936]
  27. Harvard University [MH090948]
  28. National Human Genome Research Institute Medical Sequencing Program grant [U54 HG003067]
  29. [HHSN268201000029C]

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Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we analyze tissue specificity of imprinting from allelic expression data in 1582 primary tissue samples from 178 individuals from the Genotype-Tissue Expression (GTEx) project. We characterize imprinting in 42 genes, including both novel and previously identified genes. Tissue specificity of imprinting is widespread, and gender. specific effects are revealed in a small number of genes in muscle with stronger imprinting in males. IGF2 shows maternal expression in the brain instead of the canonical paternal expression elsewhere. Imprinting appears to have only a subtle impact on tissue-specific expression levels, with genes lacking a systematic expression difference between tissues with imprinted and biallelic expression. In summary, our systematic characterization of imprinting in adult tissues highlights variation in imprinting between genes, individuals, and tissues.

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