Germline de novo mutation rate of the highly heterozygous amphioxus genome.

ABSTRACT: Germline de novo mutations (DNMs) are the ultimate source of heritable variation, yet their patterns in highly heterozygous genomes remain poorly understood. Amphioxus, an early-branching chordate with exceptionally high genomic heterozygosity (3.2% to 4.2% in sequenced species), offers a unique model to explore mutational dynamics in such contexts. It is unclear whether high heterozygosity in amphioxus is due to a large effective population size, an increased mutation rate, or both. Here, we perform deep short-read whole-genome sequencing of a two-generation pedigree of the amphioxus Branchiostoma floridae comprising two parents and 104 offspring and develop a framework based on allele-aware parental assemblies as the reference to accurately identify DNMs. We detect 242 high-confidence DN

SUBMITTER: Xue J 

PROVIDER: S-EPMC12862219 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature