Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2023
Höfundar / Authors: Gabriel David (1), Patrik Rödin Mörch (1,2), Theodore Squires (1,2), Jacob Höglund (1), Kristinn Pétur Magnússon (2,3)
Starfsvettvangur / Affiliations: 1. Uppsala Universitet, 2. Háskólinn á Akureyri, 3. Náttúrufræðistofnun Íslands
Kynnir / Presenter: Theodore Squires
While the importance of specific demographic histories in shaping patterns of mutational load conferred by deleterious single nucleotide polymorphisms (SNPs) has received considerable attention recently, few studies have investigated the fitness consequences of structural variation in distinct evolutionary lineages. We performed heuristic-based filtering and rapid automated curation of short-read-discovered SVs callsets from 102 re-sequenced individuals across two recently (~2 million years) diverged ptarmigan (Lagopus) species. Population genetic analyses of the resulting high-confidence SV callsets (27,644 deletions, 108 duplications, 96 inversions) reveal that the relative proportion of deleterious structural variants is consistently greater in small effective population sizes (Ne), but that the relative frequency of deleterious variants differs between populations having experienced recent bottlenecks versus longer-term low Ne. Similar to SNPs, ratios of non-synonymous to synonymous polymorphisms in SVs are higher for historically small versus large populations, suggesting that many SVs may conform to nearly-neutral expectations.