Mutations linked to expression of genes associated with complex traits

Mutations linked to expression of genes associated with complex traits

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).

Concepts Keywords
Bowel Microsatellite
Brain Molecular biology
California Genome
CC0 Tandem repeat
DNA Whole genome sequencing
Fair Dealing Complex traits
Genetic Variation Minisatellite
Genome Http
Genotype Genotype
Huntington Genetic mapping
Intelligence Genomics
Medicine Genetics
Microsatellites Branches of biology
Mutation Disease
Nature
Nerve
Nucleotides
Phenotypes
Probability
Progressive
San Diego
Schizophrenia
Sequencing
Short Tandem Repeat
Short Tandem Repeats
STR
STRs
Tandem Repeats
United States

Semantics

Type Source Name
gene UNIPROT IMPACT
drug DRUGBANK Coenzyme M
pathway BSID Gene Expression
gene UNIPROT PLXNA1
gene UNIPROT CCN3
gene UNIPROT EAF2
disease MESH schizophrenia
disease DOID schizophrenia
disease MESH inflammatory bowel disease
disease DOID inflammatory bowel disease

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