Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Reduced mutation rate in exons due to differential mismatch repair.

Nature genetics - 1 Dec 2017

Frigola Joan, Sabarinathan Radhakrishnan, Mularoni Loris, Muiños Ferran, Gonzalez-Perez Abel, López-Bigas Núria

Abstract excerpt

While recent studies have identified higher than anticipated heterogeneity of mutation rate across genomic regions, mutations in exons and introns are assumed to be generated at the same rate. Here we find fewer somatic mutations in exons than expected from their sequence content and demonstrate that this is not due to purifying selection. Instead, we show that it is caused by higher mismatch-repair activity in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line, Tumor
Share to Chromatin
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Profiling

Share to Histones

Share to Introns

Share to Mutation Rate

Share to Selection, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 29106418
DOI: 10.1038/ng.3991
PMCID: PMC5712219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced mutation rate in exons due to differential mismatch repair.PMID 29106418Read ↗

Germline de novo mutation rates on exons versus introns in humans.Semantic proximity Read ↗

Mismatch repair prefers exons.Semantic proximity Read ↗

Germline <i>de novo</i> mutation rates on exons versus introns in humansSemantic proximity Read ↗

Differential DNA mismatch repair underlies mutation rate variation across the human genomeSemantic proximity Read ↗

Depletion of somatic mutations in splicing-associated sequences in cancer genomes.Semantic proximity Read ↗

The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selectionSemantic proximity Read ↗

Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging.Semantic proximity Read ↗

Mutation patterns in the human genome: more variable than expected.Semantic proximity Read ↗

Likelihood models of somatic mutation and codon substitution in cancer genes.Semantic proximity Read ↗

Mitigating age-related somatic mutation burden.Semantic proximity Read ↗

Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate.Semantic proximity Read ↗

Contrasting determinants of mutation rates in germline and somaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.