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Updated: Jun 6, 2025

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Gene Editing of Primary Rhesus Macaque B Cells
Published on: February 10, 2023
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Genetic Architecture of Immune Cell DNA Methylation in the Rhesus Macaque
Christina E Costa1,2, Marina M Watowich3, Elisabeth A Goldman4
1Department of Anthropology, New York University, New York, New York, USA.
Molecular Ecology
|November 25, 2024
Summary
Genetic variations influence DNA methylation (a key epigenetic mechanism) in rhesus macaques, impacting gene regulation and traits. These genetic effects on methylation are significant, more so than age or sex, and link to immune functions.
Area of Science:
- Genetics
- Epigenetics
- Population Biology
Background:
- Genetic variation influencing gene regulation, not just protein function, significantly affects traits within and between species.
- Epigenetic mechanisms like DNA methylation link genotype to phenotype, but their genetic underpinnings in natural populations are not well understood.
Purpose of the Study:
- To investigate the genetic architecture of DNA methylation in a natural population.
- To identify genetic variants (SNPs) that influence local DNA methylation levels (cis-methylation quantitative trait loci or meQTL).
Main Methods:
- Reduced representation bisulfite sequencing was used to measure DNA methylation at over 555,000 CpGs in 573 rhesus macaques.
- Allele-specific methods were employed to map meQTL by testing 243,389 single nucleotide polymorphisms (SNPs) for their effects on local DNA methylation.
Main Results:
- Over 516,000 meQTL were identified, with 69% of CpGs having at least one meQTL.
- meQTL explained 21.2% of methylation variance, outperforming age and sex as predictors.
- meQTL were found in regulatory regions like promoters and enhancers, and 332 meQTL were confirmed as cis-expression QTL (eQTL), linking methylation to immune response genes.
Conclusions:
- This study provides crucial insights into the genetic control of DNA methylation in a natural population.
- The findings highlight the role of genetic effects on DNA methylation in driving phenotypic variation, particularly in immune-related functions, in non-human primates.
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