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Epigenomic differences in the human and chimpanzee genomes are associated with structural variation
Xiaoyu Zhuo1,2, Alan Y Du1,2, Erica C Pehrsson1,2
1Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.
Genome Research
|December 11, 2020
Summary
Structural variations like insertions and deletions (indels) drive genome evolution. This study reveals how these indels shape epigenome differences between humans and chimpanzees, impacting regulatory regions.
Area of Science:
- Genomics
- Epigenetics
- Evolutionary Biology
Background:
- Structural variations (SVs), including insertions and deletions (indels), are key drivers of genome evolution.
- The role of SVs in epigenome evolution remains largely unexplored.
Purpose of the Study:
- To investigate how lineage-specific indels contribute to epigenome differences between humans and chimpanzees.
- To understand the mechanisms by which SVs shape the epigenetic landscape.
Main Methods:
- Intersection of human-chimpanzee indels (20 bp-50 kb) with putative regulatory regions (promoters, enhancers) and repressed regions.
- Analysis of indel association with lineage-biased regulatory and repressed regions (RRRs).
- Examination of transposable element insertions in human-specific regulatory elements.
Main Results:
- 12% of indels overlap with putative regulatory and repressed regions (RRRs).
- Indels are associated with lineage-biased RRRs, with enhancers and repressive regions showing increased bias.
- Medium-sized indels are enriched in CpG island-containing promoters; transposable elements form novel regulatory elements.
Conclusions:
- Different indel types are linked to specific epigenomic diversity between humans and chimpanzees.
- SVs play a significant role in shaping the epigenetic differences observed between species.
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