A recent study done on yeast genomes aimed to better understand how genetic variation contributes to phenotypic diversity by focusing on structural variants and how they are overlooked compared to single nucleotide differences. Some of these variants include insertions, deletions, and rearrangements. Using over 1,000 strains of Saccharomyces cerevisiae (budding yeast), researchers created 1,482 almost complete genomes through long-read sequencing. This allowed them to construct a detailed pangenome containing 8,541 gene families, over 2,000 of which were not present in the standard yeast reference genome. These new discoveries revealed that structural variants play a significant role in genetic diversity, often originating from processes like horizontal gene transfer or rapid evolution.
Through integrating these genomic assemblies with over 8,000 molecular and organismal traits, researchers have discovered that structural variants had a much stronger influence on phenotypic differences than they did on single-nucleotide polymorphisms. They contributed critically to complex traits and were often tied to multiple characteristics at once. Despite the study being limited to yeast and not being able to fully resolve all genetic complexities, it did demonstrate the power of combining complete genome sequencing with large-scale trait data. This approach offers a framework for studying how genetic variation influences diversity in more complex species, including humans.
This study is fascinating as it pushes beyond the traditional focus on small DNA changes and emphasizes the importance of larger structural variation in shaping biological diversity. It displays how even simple organisms like yeast can assist in answering complex genetic questions that apply to all living things. Research not only enhances our understanding of evolution and trait development but also shows us new possibilities for studying genetic disorders and variation in humans through genome-scale methods.
https://www.sciencedirect.com/topics/neuroscience/saccharomyces-cerevisiae
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