Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

ABSTRACT: We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involved in pathogen defence and immunity and exhibit enrichment of transposable elements and signatures of recent retrotransposition events. Combinations of alleles and genes unique to an individual strain are commonly observed at these loci, reflecting distinct strain phenotypes. We used these genomes to improve the mouse reference genome, resulting in the completion of 10 new gene structures. Also, 62 new coding loci were added to the reference genome annotation. These genomes ide

SUBMITTER: Lilue J 

PROVIDER: S-EPMC6205630 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature