Identifying Structural Variation in Haploid Microbial Genomes from Short-Read Resequencing Data Using Breseq [PDF]
, 2014 Mutations that alter chromosomal structure play critical roles in evolution and disease, including in the origin of new lifestyles and pathogenic traits in microbes.
Barrick, Jeffrey E. +8 more
core +1 more source
Strong Heterogeneity in Mutation Rate Causes Misleading Hallmarks of Natural Selection on Indel Mutations in the Human Genome [PDF]
Molecular Biology and Evolution, 2013 Elucidating the mechanisms of mutation accumulation and fixation is critical to understand the nature of genetic variation and its contribution to genome evolution. Of particular interest is the effect of insertions and deletions (indels) on the evolution of genome landscapes.
Kvikstad, E, Duret, L
openaire +3 more sources
BMC Bioinformatics, 2019 Background Accurate detection of polymorphisms with a next generation sequencer data is an important element of current genetic analysis. However, there is still no detection pipeline that is completely reliable.
Akio Miyao +4 more
doaj +1 more source
A redefined InDel taxonomy provides insights into mutational signatures
Nature GeneticsAbstract Despite their deleterious effects, small insertions and deletions (InDels) have received far less attention than substitutions. Here we generated isogenic CRISPR-edited human cellular models of postreplicative repair dysfunction (PRRd), including individual and combined gene edits of DNA mismatch repair (MMR) and replicative ...
Gene Ching Chiek Koh +19 more
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A novel framework for engineering protein loops exploring length and compositional variation
Scientific Reports, 2021 Insertions and deletions (indels) are known to affect function, biophysical properties and substrate specificity of enzymes, and they play a central role in evolution. Despite such clear significance, this class of mutation remains an underexploited tool
Pedro A. G. Tizei +4 more
doaj +1 more source
Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population
Frontiers in Genetics, 2022 Insertion/deletion (InDel) polymorphisms, as ideal forensic markers, show useful characteristics of both SNPs and STRs, such as low mutation rate, short amplicon size and general applicability of genotyping platform, and have been used in human ...
Lin Zhang +5 more
doaj +1 more source
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis [PDF]
, 2016 Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted ...
Boel, Annekatrien +12 more
core +2 more sources
Effects of 24-bp Indel Mutation Within the AHR Gene on Litter Size in the Akkaraman Sheep Breed
Journal of Agricultural SciencesThe aryl hydrocarbon receptor (Ahr) is a transcription factor that is involved in a variety of biological processes, such as cell proliferation, growth and the immune system.
Koray Kırıkçı, Ercan Soydan
doaj +1 more source
Structural and dynamic changes associated with beneficial engineered single-amino-acid deletion mutations in enhanced green fluorescent protein. [PDF]
, 2014 Single-amino-acid deletions are a common part of the natural evolutionary landscape but are rarely sampled during protein engineering owing to limited and prejudiced molecular understanding of mutations that shorten the protein backbone.
Arpino, JA, Jones, DD, Rizkallah, PJ
core +3 more sources
Molecular Oncology, EarlyView.A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath +13 more
wiley +1 more source