Genomic map of candidate human imprint control regions: the imprintome

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 a...

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Main Authors: Dereje D. Jima, David A. Skaar, Antonio Planchart, Alison Motsinger-Reif, Sebnem E. Cevik, Sarah S. Park, Michael Cowley, Fred Wright, John House, Andy Liu, Randy L. Jirtle, Cathrine Hoyo
Format: Article
Language:English
Published: Taylor & Francis Group 2022-12-01
Series:Epigenetics
Subjects:
Online Access:http://dx.doi.org/10.1080/15592294.2022.2091815
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author Dereje D. Jima
David A. Skaar
Antonio Planchart
Alison Motsinger-Reif
Sebnem E. Cevik
Sarah S. Park
Michael Cowley
Fred Wright
John House
Andy Liu
Randy L. Jirtle
Cathrine Hoyo
author_facet Dereje D. Jima
David A. Skaar
Antonio Planchart
Alison Motsinger-Reif
Sebnem E. Cevik
Sarah S. Park
Michael Cowley
Fred Wright
John House
Andy Liu
Randy L. Jirtle
Cathrine Hoyo
author_sort Dereje D. Jima
collection DOAJ
description 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.
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spelling doaj.art-7839a357ee7a4b1cb5f201df811ebdaf2023-09-21T13:23:12ZengTaylor & Francis GroupEpigenetics1559-22941559-23082022-12-0117131920194310.1080/15592294.2022.20918152091815Genomic map of candidate human imprint control regions: the imprintomeDereje D. Jima0David A. Skaar1Antonio Planchart2Alison Motsinger-Reif3Sebnem E. Cevik4Sarah S. Park5Michael Cowley6Fred Wright7John House8Andy Liu9Randy L. Jirtle10Cathrine Hoyo11North Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityNorth Carolina State UniversityDuke University, School of MedicineNorth Carolina State UniversityNorth Carolina State UniversityImprinted 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.http://dx.doi.org/10.1080/15592294.2022.2091815epigeneticsgenomic imprintingfoetal originswhole genomemethylationimprint control regions
spellingShingle Dereje D. Jima
David A. Skaar
Antonio Planchart
Alison Motsinger-Reif
Sebnem E. Cevik
Sarah S. Park
Michael Cowley
Fred Wright
John House
Andy Liu
Randy L. Jirtle
Cathrine Hoyo
Genomic map of candidate human imprint control regions: the imprintome
Epigenetics
epigenetics
genomic imprinting
foetal origins
whole genome
methylation
imprint control regions
title Genomic map of candidate human imprint control regions: the imprintome
title_full Genomic map of candidate human imprint control regions: the imprintome
title_fullStr Genomic map of candidate human imprint control regions: the imprintome
title_full_unstemmed Genomic map of candidate human imprint control regions: the imprintome
title_short Genomic map of candidate human imprint control regions: the imprintome
title_sort genomic map of candidate human imprint control regions the imprintome
topic epigenetics
genomic imprinting
foetal origins
whole genome
methylation
imprint control regions
url http://dx.doi.org/10.1080/15592294.2022.2091815
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