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Following the Dynamics of Structural Variants in Experimentally Evolved Populations

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Published on: February 3, 2023

Variant mapping and mutation discovery in inbred mice using next-generation sequencing.

Jabier Gallego-Llamas^1,2, Andrew E Timms³, Krista A Geister⁴

¹Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Jabier.Gallego@seattlechildrens.org.

|November 11, 2015

Summary

New DNA sequencing methods efficiently identify genetic variants in ENU-mutagenized mice. This approach aids in mapping mutant loci and pinpointing causal variants for genetic disease research.

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Area of Science:

Genomics
Genetics
Molecular Biology

Background:

Advanced DNA sequencing technologies facilitate rapid discovery of genetic variations.
These methods enable simultaneous mapping of mutant loci and identification of causative mutations.
The study analyzes ethylnitrosourea (ENU)-induced mutations in mice.

Purpose of the Study:

To apply advanced DNA sequencing for analyzing ENU-mutagenized mice.
To utilize identified sequence variants for positional cloning of mutated genes.
To evaluate whole genome sequencing (WGS) and whole exome sequencing (WES) approaches.

Main Methods:

Ascertainment of ENU-induced variants in four phenotypically distinct mutant mouse lines.
Application of both whole genome sequencing (WGS) and whole exome sequencing (WES) datasets.
Using identified variants as markers for positional gene cloning.

Main Results:

ENU-induced variants were successfully identified in mutant mouse lines.
Both WGS and WES datasets enabled the localization of homozygous regions.
Candidate gene mutations were identified and available for individual assessment.

Conclusions:

Both WGS and WES are effective for localizing homozygous regions and identifying candidate mutations.
The WGS strategy proved more robust due to a higher number of ascertained ENU-induced variants.
This integrated approach streamlines the identification of causal variants in mutagenized populations.