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Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes.


ABSTRACT: This study examines genomic duplications, deletions, and rearrangements that have happened at scales ranging from a single base to complete chromosomes by comparing the mouse and human genomes. From whole-genome sequence alignments, 344 large (>100-kb) blocks of conserved synteny are evident, but these are further fragmented by smaller-scale evolutionary events. Excluding transposon insertions, on average in each megabase of genomic alignment we observe two inversions, 17 duplications (five tandem or nearly tandem), seven transpositions, and 200 deletions of 100 bases or more. This includes 160 inversions and 75 duplications or transpositions of length >100 kb. The frequencies of these smaller events are not substantially higher in finished portions in the assembly. Many of the smaller tra

SUBMITTER: Kent WJ 

PROVIDER: S-EPMC208784 | biostudies-literature | 2003 Sep

REPOSITORIES: biostudies-literature