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Shifting epigenetic contexts influence regulatory variation and disease risk
Daniel Richard1, Terence D Capellini1,2
1Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Aging
|June 17, 2021
Summary
Epigenetic changes during development and aging influence gene regulation. These shifts alter how genetic variations affect health, impacting natural selection and disease risk differently across the lifespan.
Area of Science:
- Genomics
- Evolutionary Biology
- Epigenetics
Background:
- Epigenetic shifts are key to aging, affecting gene regulation.
- These changes interact with genetic variants, influencing disease development.
- Developmental and aging epigenetic changes have distinct effects on gene variant impacts.
Purpose of the Study:
- To explore how epigenetic changes across the lifespan affect evolutionary pressures on genetic variants.
- To analyze the functional impact of sequence variations in relation to developmental and aging epigenetic contexts.
- To propose a new framework for understanding regulatory sequence evolution and phenotypic effects.
Main Methods:
- Defined genomic regions with altered chromatin accessibility during tissue development (fetal to adult) and aging (young to old adult).
- Analyzed evolutionary constraint patterns and functional impacts of sequence variations using epigenomic datasets.
- Examined genetic disease risk associations in relation to epigenetic context.
Main Results:
- Developmental epigenetic changes showed stronger negative selection pressures but weaker effects on aging disease risk.
- Variants with increased chromatin accessibility in adult tissues had stronger effects, particularly in younger adults.
- Epigenetic context significantly influences the evolutionary and phenotypic impact of sequence variation.
Conclusions:
- Epigenetic status modulates the effects of evolutionary relevant sequence variation.
- Considering changing epigenetic contexts offers new insights into regulatory sequence evolution.
- This perspective can enhance understanding of aging biology and age-related diseases.
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