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Analysis of structural variation among inbred mouse strains
Ahmed Arslan1, Zhuoqing Fang1, Meiyue Wang1
1Department of Anesthesia, Pain and Perioperative Medicine, Stanford University School of Medicine, 94305, Stanford, CA, USA.
BMC Genomics
|March 2, 2023
Summary
Long read sequencing reveals abundant structural variants in mouse genomes, improving genetic analysis for disease models. This method aids in discovering gene variants linked to human conditions like autism spectrum disorder.
Area of Science:
- Genomics
- Comparative Genomics
- Genetic Variation
Background:
- Long read sequencing identifies structural variants in human genetic diseases.
- Investigating long read sequencing for genetic analysis in murine models of human diseases.
Purpose of the Study:
- To assess the utility of long read sequencing for analyzing genetic variations in mouse models.
- To identify structural variants in inbred mouse strains and their potential role in disease.
Main Methods:
- Genomic analysis of six inbred mouse strains using long read sequencing.
- Comparison with conventional short read sequencing data.
- Generation of knockin mice for variant characterization.
Main Results:
- Structural variants are highly abundant in inbred mouse genomes (4.8 per gene).
- Short read sequencing is insufficient for accurate structural variant detection.
- A unique 8-bp deletion in Draxin in BTBR mice was identified, linked to neuroanatomic abnormalities resembling autism spectrum disorder.
Conclusions:
- Long read sequencing provides a more complete map of genetic variation in inbred strains.
- This enhanced map facilitates genetic discovery in murine models of human diseases.
- Improved understanding of genetic variation aids in characterizing disease mechanisms.
