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VTRNA2-1: an environment-sensitive human epiallele

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Independent genome-wide methylation screens converge on VTRNA2-1 as a systemic metastable epiallele shaped by periconceptional environment and stable for years.

Source

Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment

Silver MJ, Kessler NJ, Hennig BJ, et al. · Genome biology · 2015

doi.org/10.1186/s13059-015-0660-yRead the full paper ↗147 citationscc by

Study at a glance

Design
Other — Multi-tissue metastable-epiallele screens plus Gambian season-of-conception methylation analyses
N
N=215 · Season-of-conception contrast: 110 dry-season vs 105 rainy-season conceptions; additional multi-tissue discovery screens
Population
Human multi-tissue DNA methylomes and Gambian infant cohorts
Outcome
Systemic interindividual methylation at VTRNA2-1 and periconceptional environment effects

Structured fields used in claim comparison tables when every cited study has a complete layer.

What they did

Authors screened multi-tissue DNA methylomes for systemic interindividual variation, then tested season-of-conception effects in Gambian infants, converging on VTRNA2-1.

What they found

VTRNA2-1 shows concordant multi-tissue methylation differences, is partly set by periconceptional environment, and remains stable ≥10 years; ME regions are depleted for CGIs/SINEs and enriched for LINEs/ERVs.

The limits

What it doesn't show

Epiallele status is not itself proof of disease causation in every tissue; screens have genomic biases despite being genomewide.

Key terms

Metastable epiallele (ME)
Locus with systemic, stochastic methylation differences established early and mitotically stable.
VTRNA2-1
Vault RNA / putative tumor-suppressor locus highlighted as a human ME.
Periconceptional environment
Nutritional/environmental conditions around conception.
Bisulfite-seq
Sequencing method measuring CpG methylation after bisulfite conversion.
ERV/LINE enrichment
Retrotransposon classes enriched near metastable regions.

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Convergent locus:

Common questions

Why screen multiple tissues?

To find systemic (not tissue-specific) methylation variation.

Which locus converged?

VTRNA2-1.

How durable is the methylation state?

Stable over at least 10 years.

What genomic features mark MEs?

CGI/SINE depletion; LINE/ERV enrichment.

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