Alexander Popovici
Research Mentor: Yang Li
Mentor Department: Ecology and Evolutionary Biology, LSA
Author(s): Alexander Popovici, Yang Li
Session: Session 5 (2:00 PM – 2:50 PM)
Presentation Type: Poster 68
Abstract
In many genomic studies of nucleotide mutations, single-nucleotide mutations (SNMs) are often the primary focus, as they represent the majority of observed mutations. Consequently, multinucleotide mutations (MNMs) are frequently overlooked despite their important role in evolutionary biology. MNMs can help explain the crossing of fitness valleys, where intermediate single mutations may reduce fitness, but two or more mutations occurring simultaneously can overcome fitness barriers. In addition, MNMs may lead to misannotations and misdiagnoses in genetic studies, highlighting the need to consider them carefully in evolutionary analyses. In this study, germline mutation rates, mutations occurring in germ cells and inherited by offspring, were examined across 68 species of mammals, fish, birds, and reptiles, using data from 151 parent–offspring trios containing approximately 3,000 SNMs. MNM candidates were identified based on the genomic proximity of mutations, using the chromosomal location and position of SNMs. This approach enables the exploration of patterns in MNM occurrence, including the ratio of MNMs to SNMs and potential variation across species.
