Epistasis mapping, in which the phenotype that emerges from combining pairs of mutations is measured quantitatively, is a powerful tool for unbiased study of gene function. When performed at a large scale, this approach has been used to assign function to previously uncharacterized genes, define functional modules and pathways, and study their cross talk. These experiments rely heavily on methods for rapid sampling of binary combinations of mutant alleles by systematic generation of a series of double mutants. Epistasis mapping technologies now exist in various model systems. Here we provide an overview of different epistasis mapping technologies, including the pombe epistasis mapper (PEM) system designed for the collection of quantitative genetic interaction data in fission yeast Comprising a series of high-throughput selection steps for generation and characterization of double mutants, the PEM system has provided insight into a wide range of biological processes as well as facilitated evolutionary analysis of genetic interactomes across different species.
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http://dx.doi.org/10.1101/pdb.top079905 | DOI Listing |
Theor Appl Genet
January 2025
College of Agriculture, State Key Laboratory of Crop Stress Biology in Arid Areas, Northwest A&F University, Yangling, 712100, China.
QTL mapping of two RIL populations in multiple environments revealed a consistent QTL for bristle length, and combined with RNA-seq, a potential candidate gene influencing bristle length was identified. Foxtail millet bristles play a vital role in increasing yields and preventing bird damage. However, there is currently limited research on the molecular regulatory mechanisms underlying foxtail millet bristle formation, which constrains the genetic improvement and breeding of new foxtail millet varieties.
View Article and Find Full Text PDFAlcohol use disorder (AUD) is known to have a significant genetic component, yet there remains a substantial gap between its heritability and findings from genome-wide association studies. One potential factor contributing to this gap may be genetic interactions, or epistasis, a largely unexplored aspect in the context of AUD. The aim of this study was to investigate the role of epistasis in AUD susceptibility and severity among American Indians, a population that exhibits the highest rates of AUD among all ethnic groups in the U.
View Article and Find Full Text PDFPlant Physiol
December 2024
Departamento de Genética Molecular de Plantas, Centro Nacional de Biotecnología (CNB), Consejo Superior de Investigaciones Científicas (CSIC), Madrid 28049, Spain.
The number and distribution of trichomes, i.e. the trichome pattern, in different plant organs show a conspicuous inter- and intraspecific diversity across Angiosperms that is presumably involved in adaptation to numerous environmental factors.
View Article and Find Full Text PDFPlant J
January 2025
College of Horticulture, China Agricultural University, Beijing, 100193, China.
Many quantitative traits are controlled by multiple genetic variations with minor effects, making it challenging to resolve the underlying genetic network and to apply functional markers in breeding. Affected by up to a hundred quantitative trait loci (QTLs), fruit-soluble sugar content is one of the most complex quantitative traits in apple (Malus sp.).
View Article and Find Full Text PDFmedRxiv
November 2024
Centre de Recherche du CHUM, and Faculty of Medicine, University of Montreal, QC, Canada.
Initially introduced in 1909 by William Bateson, classic epistasis (genetic variant interaction) refers to the phenomenon that one variant prevents another variant from a different locus from manifesting its effects. The potential effects of genetic variant interactions on complex diseases have been recognized for the past decades. Moreover, It has been studied and demonstrated that leveraging the combined SNP effects within the genetic block can significantly increase calculation power, reducing background noise, ultimately leading to novel epistasis discovery that the single SNP statistical epistasis study might overlook.
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