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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Published on: September 20, 2016

Short template switch events explain mutation clusters in the human genome.

Ari Löytynoja1, Nick Goldman2

  • 1Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland.

Genome Research
|April 8, 2017
PubMed
Summary

A new mutation model explains complex genetic changes in the human genome, revealing thousands of template switch events during evolution. This finding challenges existing methods for analyzing genetic variation and understanding genome evolution.

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Related Experiment Videos

Last Updated: Jun 29, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
12:04

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Resequencing studies reveal extensive human genetic variation, posing challenges in understanding complex mutations.
  • High frequencies of clustered base substitutions and insertion-deletions (indels) are frequently observed but poorly explained by current models.

Purpose of the Study:

  • To develop a generalized mutation model for template switching during replication.
  • To investigate the role of template switch events in the origin of short mutation clusters in the human genome.

Main Methods:

  • Devised a generalized mutation model incorporating template switching during DNA replication.
  • Applied the model to analyze genetic variation in human and chimpanzee genomes and between two human genomes.
  • Identified new mutation types, including short inversions and hairpin loop structures.

Main Results:

  • Detected thousands of template switch events in human-chimp evolution and hundreds between human genomes.
  • The model explains complex mutation patterns like multinucleotide mutations and compensatory substitutions without invoking positive selection.
  • Identified numerous erroneous variant annotations in human reference data due to challenges in mapping clustered sequence differences.

Conclusions:

  • Local template switch events are a significant, previously underestimated mechanism for generating complex mutations.
  • Current analytical biases may have led to the neglect of template switch events.
  • Incorporating this model into genomic analysis pipelines will improve the understanding of genome variation and evolution.