Publication date: Nov 07, 2019
Credit: CC0 Public Domain Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel disease and even height and intelligence.
But until now, mostly due to lack of proper datasets, genome-wide studies of the effects of short tandem repeats on gene expression had only found limited connections.
In this study, by leveraging whole genome sequencing and expression data for 17 tissues from the Genotype-Tissue Expression Project (GTEx) the team identified short tandem repeats in which the expression of nearby genes is impacted by the number of occurrences of the repetitive units in the genome.
The study results implicate specific repeat mutations in traits including height and schizophrenia, inflammatory bowel disease and intelligence.
The impact of short tandem repeat variation on gene expression, Nature Genetics (2019).
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