Exploring the Impacts of Genetic Variation on Tissue-Specific Expression

Preliminary results from the Genotype-Tissue Expression project reveal that gene expression varies more across tissues than across individuals.

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LESLIE GAFFNEY

By analyzing more than 1,600 samples representing 43 different tissues from 175 individuals, members of the international Genotype-Tissue Expression (GTEx) Consortium found that unique and shared regulatory DNA variants create similar gene-expression patterns within tissues across individuals, according to a study and two companion papers published today (May 7) in Science.

“It’s a very impressive set of analyses where they are correlating mutations and haplotypes with gene expression in a way that I haven’t really seen before,” said Mathias Uhlén of the Royal Institute of Technology in Sweden. “It’s a landmark paper for sure.”

Previous studies have found that many genomic variations do not occur in protein-coding genes, but rather in regions of the genome that regulate their expression. And other work has examined tissue-specific ...

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