Genetic epistasis is a fundamental concept in genetics that describes how interactions between genes determine phenotypic traits. To enhance students' understanding and practical application of genetic epistasis, this experiment is designed and conducted using gene mutations in the adenine biosynthesis pathway of (baker's yeast). is a classic model organism for genetic teaching experiments. In its adenine biosynthesis pathway, a mutation in the gene leads to the accumulation of the intermediate 5'-phosphoribosylaminoimidazole (AIR), causing the cells to appear red. However, if a gene upstream of in the adenine biosynthesis pathway (such as ) is defective, the red phenotype of yeast will disappear. Conversely, a defect in a gene downstream of (such as ) does not alter the red phenotype. Therefore, is epistatic to In this experiment, the CRISPR-Cas9 genome editing technology is employed, allowing students to perform single knockout of Δ, as well as double knockouts of ΔΔ and ΔΔ in . By observing the phenotypic changes in yeast mutants from white to red and back to white, students gain a profound understanding of the basic genetic theory of how genes determine phenotypes and the concept of epistasis in gene interactions. This experiment also enables students to master fundamental yeast genetic techniques, significantly enhancing their ability to design and conduct experiments in real research environments. This is of great significance for their future research work and academic development.
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http://dx.doi.org/10.16288/j.yczz.24-248 | DOI Listing |
Plant Genome
March 2025
School of Plant, Environmental and Soil Sciences, Louisiana State University Agricultural Center, Baton Rouge, Louisiana, USA.
Genomic selection can enhance the rate of genetic gain of cane and sucrose yield in sugarcane (Saccharum L.), an important industrial crop worldwide. We assessed the predictive ability (PA) for six traits, such as theoretical recoverable sugar (TRS), number of stalks (NS), stalk weight (SW), cane yield (CY), sugar yield (SY), and fiber content (Fiber) using 20,451 single nucleotide polymorphisms (SNPs) with 22 statistical models based on the genomic estimated breeding values of 567 genotypes within and across five stages of the Louisiana sugarcane breeding program.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Plant Sciences, North Dakota State University, Fargo, 58108, USA.
Detecting genome-wide SNP-SNP interactions (epistasis) efficiently is essential to harnessing the vast data now available from modern biobanks. With millions of SNPs and genetic information from hundreds of thousands of individuals, researchers are positioned to uncover new insights into complex disease pathways. However, this data scale brings significant computational and statistical challenges.
View Article and Find Full Text PDFFront Biosci (Schol Ed)
December 2024
Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia.
Background: Uterine fibroids (UF) is the most common benign tumour of the female reproductive system. We investigated the joint contribution of genome-wide association studies (GWAS)-significant loci and environment-associated risk factors to the UF risk, along with epistatic interactions between single nucleotide polymorphisms (SNPs).
Methods: DNA samples from 737 hospitalised patients with UF and 451 controls were genotyped using probe-based PCR for seven common GWAS SNPs: rs117245733 , rs547025 rs2456181 , rs7907606 , , rs58415480 , rs7986407 , and rs72709458 .
BioData Min
December 2024
School of Computing, Queen's University, 557 Goodwin Hall, 21-25 Union St, Kingston, K7L 2N8, Ontario, Canada.
Background: Epistasis, the phenomenon where the effect of one gene (or variant) is masked or modified by one or more other genes, significantly contributes to the phenotypic variance of complex traits. Traditionally, epistasis has been modeled using the Cartesian epistatic model, a multiplicative approach based on standard statistical regression. However, a recent study investigating epistasis in obesity-related traits has identified potential limitations of the Cartesian epistatic model, revealing that it likely only detects a fraction of the genetic interactions occurring in natural systems.
View Article and Find Full Text PDFDatabase (Oxford)
December 2024
The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Originally developed to meet the challenges of genomic data deluge, GeniePool emerged as a pioneering platform, enabling efficient storage, accessibility, and analysis of vast genomic datasets, enabled due to its data lake architecture. Building on this foundation, GeniePool 2.0 advances genomic analysis through the integration of cutting-edge variant databases, such as CHM13-T2T, AlphaMissense, and gnomAD V4, coupled with the capability for variant co-occurrence queries.
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