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Genetics shapes methylation and expression

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In HapMap LCLs, promoter methylation associates with genetic variants and transcript levels.

Source

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

Bell JT, Pai AA, Pickrell JK, et al. · Genome biology · 2011

doi.org/10.1186/gb-2011-12-1-r10Read the full paper ↗695 citationscc by

Study at a glance

Design
Cross-sectional — Illumina 27K promoter methylation in Yoruba HapMap LCLs linked to genotypes and RNA-seq
N
N=77 · 77 LCLs; RNA-seq available for 69
Population
HapMap Yoruba lymphoblastoid cell lines
Outcome
Genetic and expression correlates of inter-individual DNA methylation

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Genetics shapes methylation and expression

These passages occur verbatim in the stored paper text. They support the points listed below; they do not verify every statement in the explanation.

HapMap lymphoblastoid cell lines.

Background DNA methylation plays an important regulatory role in eukaryotic genomes.

Genome-wide promoter DNA methylation.

Alterations in methylation can affect transcription and phenotypic variation [], but the source of variation in DNA methylation itself remains poorly understood.
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What they did

Illumina 27K methylation in 77 Yoruba LCLs related to genotypes and RNA-seq.

What they found

Inter-individual methylation variation tracks genetics and correlates with expression.

The limits

What it doesn't show

LCLs are transformed lines, so results may differ from primary tissues.

Key terms

LCL
Lymphoblastoid cell line.
meQTL
Variant associated with methylation.
Promoter methylation
CpG methylation near TSS.
HapMap YRI
Yoruba panel.
Bisulfite array
Illumina methylation chip.
eQTL link
Methylation–expression coupling.

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Common questions

Samples?

77 YRI LCLs.

Array?

Methylation27.

Expression?

RNA-seq.

Human?

Yes.

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