منابع مشابه
Generation of mutation hotspots in ageing bacterial colonies
How do ageing bacterial colonies generate adaptive mutants? Over a period of two months, we isolated on ageing colonies outgrowing mutants able to use a new carbon source, and sequenced their genomes. This allowed us to uncover exquisite details on the molecular mechanism behind their adaptation: most mutations were located in just a few hotspots in the genome, and over time, mutations increasi...
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In cancer genomics, recurrence of mutations in independent tumor samples is a strong indicator of functional impact. However, rare functional mutations can escape detection by recurrence analysis owing to lack of statistical power. We enhance statistical power by extending the notion of recurrence of mutations from single genes to gene families that share homologous protein domains. Domain muta...
متن کاملHuman polymorphism around recombination hotspots.
Meiotic recombination in humans is thought to occur as part of the resolution of DSBs (double-strand breaks). The repair of DSBs potentially leads to biases in DNA repair that can distort the population frequency of the alleles at single-nucleotide polymorphisms. Genome-wide variation data provide evidence for a weak fixation bias in favour of G and C alleles that is strongest at the centre of ...
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In recent years, somatic mutations in cis-regulatory elements of cancer genomes have become a focus of much research. A landmark discovery occurred in 2013, in which recurrent somatic mutations were identified in the promoter of the key cancer-associated gene, TERT (reviewed in [1]). In the search for other highly recurrent cis-regulatory mutations which may serve as novel driver events, two pa...
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Background We recently reported that single de novo copy number variants (CNVs) in patients with developmental disorders frequently affected multiple functionally similar genes [1]. Since functional clusters are present in many eukaryotic species, including humans [2], a single CNV can affect multiple genes, potentially incurring additional deleterious effects due to epistatic interactions. Fur...
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ژورنال
عنوان ژورنال: Trends in Genetics
سال: 2020
ISSN: 0168-9525
DOI: 10.1016/j.tig.2020.10.003