We describe the rate and spectrum of spontaneous mutations for the social amoeba , a key model organism in molecular, cellular, evolutionary and developmental biology. Whole-genome sequencing of 37 mutation accumulation lines of after an average of 1,500 cell divisions yields a base-substitution mutation rate of 2.47 × 10 per site per generation, substantially lower than that of most eukaryotic and prokaryotic organisms, and of the same order of magnitude as in the ciliates and Known for its high genomic AT content and abundance of simple sequence repeats, we observe that base-substitution mutations in are highly A/T biased. This bias likely contributes both to the high genomic AT content and to the formation of simple sequence repeats in the AT-rich genome of In contrast to the situation in other surveyed unicellular eukaryotes, indel rates far exceed the base-substitution mutation rate in this organism with a high proportion of 3n indels, particularly in regions without simple sequence repeats. Like ciliates, has a large effective population size, reducing the power of random genetic drift, magnifying the effect of selection on replication fidelity, in principle allowing to evolve an extremely low base-substitution mutation rate.
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http://dx.doi.org/10.1534/g3.120.401578 | DOI Listing |
Int J Mol Sci
December 2024
Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
DNA polymerases frequently misincorporate ribonucleoside 5'-triphosphates into nascent DNA strands. This study examined the effects of an incorporated ribonucleoside on untargeted mutations in human cells. Riboguanosine (rG) was introduced into the downstream region of the gene to preferentially detect the untargeted mutations.
View Article and Find Full Text PDFBMC Vet Res
December 2024
Department of Research, Research and Development Station for Bovine, Arad, Romania.
Background: There are no studies belong NOTCH2 gene polymorphism in relation to reproductive and productive traits in Holstein cattle. The objective of the present study was to investigate the effect of NOTCH2 gene polymorphisms on productive and reproductive performance of fertile and anestrum cattle.
Methods: The cattle were classified into anestrus for 3-12 months postpartum (n = 115, 37.
Talanta
December 2024
Key Laboratory of Optic-electric Sensing and Analytical Chemistry for Life Science, Shandong Key Laboratory of Biochemical Analysis, Key Laboratory of Analytical Chemistry for Life Science in Universities of Shandong, Key Laboratory of Eco-chemical Engineering, College of Chemistry and Molecular Engineering, Qingdao University of Science and Technology, Qingdao, 266042, PR China. Electronic address:
Genetic testing plays a crucial role in guiding individualized medication, however, detecting fine structural mutations in genes continues to present significant challenges. This study introduces a dual-signal fluorescence system, termed FeO@Au@PEG@P1+MOF@P, that integrates magnetic separation of FeO@Au with NH-MIL-88 (MOF) catalysis. Initially, the specimen (T1/T2) facilitated the formation of a specific complex (FeO@Au@PEG@P1+T1/T2) with FeO@Au@PEG@P1.
View Article and Find Full Text PDFPLoS One
December 2024
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
Introduction: Metastatic cancer affects millions of people worldwide annually and is the leading cause of cancer-related deaths. Most patients with metastatic disease are not eligible for surgical resection, and current therapeutic regimens have varying success rates, some with 5-year survival rates below 5%. Here, we test the hypothesis that metastatic cancer can be genetically targeted by exploiting single base substitution mutations unique to individual cells that occur as part of normal aging prior to transformation.
View Article and Find Full Text PDFPathol Res Pract
December 2024
Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA. Electronic address:
Background: Advanced-stage tube-ovarian cancers (TOC) and uterine cancers (UC) significantly contribute to cancer mortality. While surgery achieves clinical remission in most cases, recurrence often necessitates systemic therapy. Recent molecular phenotype studies have advanced targeted therapies.
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