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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
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Taylor & Francis Group
2022-12-01
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Series: | Epigenetics |
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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. |
first_indexed | 2024-03-11T23:05:32Z |
format | Article |
id | doaj.art-7839a357ee7a4b1cb5f201df811ebdaf |
institution | Directory Open Access Journal |
issn | 1559-2294 1559-2308 |
language | English |
last_indexed | 2024-03-11T23:05:32Z |
publishDate | 2022-12-01 |
publisher | Taylor & Francis Group |
record_format | Article |
series | Epigenetics |
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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