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Genomic map of candidate human imprint control regions: the imprintome.

Publication ,  Journal Article
Jima, DD; Skaar, DA; Planchart, A; Motsinger-Reif, A; Cevik, SE; Park, SS; Cowley, M; Wright, F; House, J; Liu, A; Jirtle, RL; Hoyo, C
Published in: Epigenetics
December 2022

Imprinted genes - critical for growth, metabolism, and neuronal function - are expressed from one parental allele. Parent-of-origin-dependent CpG methylation regulates this expression at imprint control regions (ICRs). Since ICRs are established before tissue specification, these methylation marks are similar across cell types. Thus, they are attractive for investigating the developmental origins of adult diseases using accessible tissues, but remain unknown. We determined genome-wide candidate ICRs in humans by performing whole-genome bisulphite sequencing (WGBS) of DNA derived from the three germ layers and from gametes. We identified 1,488 hemi-methylated candidate ICRs, including 19 of 25 previously characterized ICRs (https://humanicr.org/). Gamete methylation approached 0% or 100% in 332 ICRs (178 paternally and 154 maternally methylated), supporting parent-of-origin-specific methylation, and 65% were in well-described CTCF-binding or DNaseI hypersensitive regions. This draft of the human imprintome will allow for the systematic determination of the role of early-acquired imprinting dysregulation in the pathogenesis of human diseases and developmental and behavioural disorders.

Duke Scholars

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Published In

Epigenetics

DOI

EISSN

1559-2308

Publication Date

December 2022

Volume

17

Issue

13

Start / End Page

1920 / 1943

Location

United States

Related Subject Headings

  • Humans
  • Genomics
  • Genomic Imprinting
  • Developmental Biology
  • DNA Methylation
  • Chromosome Mapping
  • Alleles
  • Adult
  • 3105 Genetics
  • 3101 Biochemistry and cell biology
 

Citation

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Jima, D. D., Skaar, D. A., Planchart, A., Motsinger-Reif, A., Cevik, S. E., Park, S. S., … Hoyo, C. (2022). Genomic map of candidate human imprint control regions: the imprintome. Epigenetics, 17(13), 1920–1943. https://doi.org/10.1080/15592294.2022.2091815
Jima, Dereje D., David A. Skaar, Antonio Planchart, Alison Motsinger-Reif, Sebnem E. Cevik, Sarah S. Park, Michael Cowley, et al. “Genomic map of candidate human imprint control regions: the imprintome.Epigenetics 17, no. 13 (December 2022): 1920–43. https://doi.org/10.1080/15592294.2022.2091815.
Jima DD, Skaar DA, Planchart A, Motsinger-Reif A, Cevik SE, Park SS, et al. Genomic map of candidate human imprint control regions: the imprintome. Epigenetics. 2022 Dec;17(13):1920–43.
Jima, Dereje D., et al. “Genomic map of candidate human imprint control regions: the imprintome.Epigenetics, vol. 17, no. 13, Dec. 2022, pp. 1920–43. Pubmed, doi:10.1080/15592294.2022.2091815.
Jima DD, Skaar DA, Planchart A, Motsinger-Reif A, Cevik SE, Park SS, Cowley M, Wright F, House J, Liu A, Jirtle RL, Hoyo C. Genomic map of candidate human imprint control regions: the imprintome. Epigenetics. 2022 Dec;17(13):1920–1943.

Published In

Epigenetics

DOI

EISSN

1559-2308

Publication Date

December 2022

Volume

17

Issue

13

Start / End Page

1920 / 1943

Location

United States

Related Subject Headings

  • Humans
  • Genomics
  • Genomic Imprinting
  • Developmental Biology
  • DNA Methylation
  • Chromosome Mapping
  • Alleles
  • Adult
  • 3105 Genetics
  • 3101 Biochemistry and cell biology