Array-based genomic diversity measures portray Mus musculus phylogenetic and genealogical relationships, and detect genetic variation among C57Bl/6J mice and between tissues of the same mouse

Mouse models lack affordable genomic technologies slowing the identification of candidate variants contributing to complex phenotypes. The Mouse Diversity Genotyping Array (MDGA) is a low cost, high-resolution platform permitting genomic diversity assessment. Using a validated list of >500,000 single nucleotide polymorphisms (SNPs), we applied the first comprehensive analysis of SNP differences to detect genetic distance across 362 Mus musculus samples. Genetic distance measured between distantly and closely related mice correlates with known phylogeny and genealogy. Variation detected between C57BL/6J mice is consistent with previous reports of variants within this strain. Putative genetic variation detected between and within tissues indicates somatic mosaicism. Genotype differences detected within a mouse are a complex mixture of technical errors and biological differences. Detailed reconstruction experiments are therefore required to determine array sensitivity at detecting true biological variants. The MDGA shows promise for analyzing mutation accumulation with development, aging, environmental mutagenesis and diseases such as cancers.

Name thesis:degree_name

M Sc

Discipline thesis:degree_discipline

Biology

Grantor dc:publisher

The University of Western Ontario

Year dc:date.issued

2013

Author dc:creator

• Eitutis, Susan T

Advisor dc:contributor.advisor

• Kathleen Hill

• Single nucleotide polymorphism
• Genotyping
• Genomic
• Mutation
• Genetic Distance
• Genetic Background
• Mus musculus
• Mouse Diversity Genotyping Array
• genetic variation
• somatic mosaicism

Language dc:language.iso

en_ca

Handle dc:identifier.uri

https://hdl.handle.net/20.500.14721/37955

OAI identifier oai:identifier

oai:uwo.scholaris.ca:20.500.14721/37955