We studied nine populations of a meadow mixed-mating plant Lychnis flos-cuculi growing in a gradient of copper smelter emissions. We hypothesize that metal tolerant populations in the polluted areas have experienced a loss of genetic variation and are more selfing than the populations from the unpolluted areas. One hundred and thirty-five parental plants and 1059 offspring were genotyped with six microsatellite markers. Selfing rates were assessed manually, with Rmes, Mltr and Colony2. Soil toxicity, population density and pollinators' activity were estimated in the studied areas. Populations from the heavily polluted area have experienced a strong founder effect. However, at present, they are characterized by high densities. A recent genetic explosion was registered for the population from the most polluted site, probably due to forest thinning under pollution effects. Selfing rates estimated with different approaches agreed well only for populations with high genetic variation; they comprised 0-0.23 and were similar between polluted and clean areas. Self-fertilization in L. flos-cuculi hardly represents a mechanism for the fixation of advantageous alleles and a barrier for gene flow from non-tolerant populations. The employment of different methods of selfing rate estimation in populations with low genetic variation appears to be necessary, though not a guarantee of reliable conclusions.
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Brief Bioinform
November 2024
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
This study aimed to investigate the genetic association between glioblastoma (GBM) and unsupervised deep learning-derived imaging phenotypes (UDIPs). We employed a combination of genome-wide association study (GWAS) data, single-nucleus RNA sequencing (snRNA-seq), and scPagwas (pathway-based polygenic regression framework) methods to explore the genetic links between UDIPs and GBM. Two-sample Mendelian randomization analyses were conducted to identify causal relationships between UDIPs and GBM.
View Article and Find Full Text PDFBrief Bioinform
November 2024
Department of Biology, University of Padova, Via U.Bassi 58/ B, 35131, Italy.
Shallow whole-genome sequencing (sWGS) offers a cost-effective approach to detect copy number alterations (CNAs). However, there remains a gap for a standardized workflow specifically designed for sWGS analysis. To address this need, in this work we present SAMURAI, a bioinformatics pipeline specifically designed for analyzing CNAs from sWGS data in a standardized and reproducible manner.
View Article and Find Full Text PDFSci Transl Med
January 2025
Graduate Program in Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue (M-860), Miami, FL 33136, USA.
Primary mitochondrial disorders are most often caused by deleterious mutations in the mitochondrial DNA (mtDNA). Here, we used a mitochondrial DddA-derived cytosine base editor (DdCBE) to introduce a compensatory edit in a mouse model that carries the pathological mutation in the mitochondrial transfer RNA (tRNA) alanine (mt-tRNA) gene. Because the original m.
View Article and Find Full Text PDFPLoS One
January 2025
Faculty of Sciences and Technology (FAST), Laboratory of Biology and Molecular Typing in Microbiology (LBTMM), University of Abomey-Calavi, Atlantic, Benin.
Background: Antiretroviral treatment increases the risk of accumulation of resistance mutations that negatively impact the possibilities of future treatment. This study aimed to present the frequency of HIV-1 antiretroviral resistance mutations and the genetic diversity among children with virological failure in five pediatric care facilities in Benin.
Methods: A cross-sectional study was carried out from November 20, 2020, to November 30, 2022, in children under 15 years of age who failed ongoing antiretroviral treatment at five facilities care in Benin (VL > 3log10 on two consecutive realizations three months apart).
PLoS Biol
January 2025
Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
RNA interference (RNAi) mediates antiviral defense in many eukaryotes. Caenorhabditis elegans mutants that disable RNAi are more sensitive to viral infection. Many mutants that enhance RNAi have also been identified; these mutations may reveal genes that are normally down-regulated in antiviral defense.
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