Causal Variation in Yeast Sporulation Tends to Reside in a Pathway Bottleneck

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Distinguishing the small number of genetic variants that impact phenotypes from the huge number of innocuous variants within an individual's genome is a difficult problem. Several hypotheses concerning the location of causal variants have been put forward based on the fact that genes are often organized into signaling cascades where the activation of a gene at the top of a pathway in turn activates large numbers of downstream genes. One hypothesis states that causal variations are more likely to reside in the genes at the top of these pathways because their effects are amplified by the signaling cascade. Here we provide support for this hypothesis by showing that causal genetic variants in yeast sporulation cluster around a gene at the top of the sporulation signaling cascade. Our result suggests a way to focus the search for causal genetic variants, including those that cause disease, on a smaller number of genes that are more likely to harbor important variations.

Vyšlo v časopise: Causal Variation in Yeast Sporulation Tends to Reside in a Pathway Bottleneck. PLoS Genet 10(9): e32767. doi:10.1371/journal.pgen.1004634
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004634

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