Objective(s):  Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...

Segregation of mitochondrial DNA (mtDNA) is an important underlying pathogenic factor in mtDNA mutation accumulation in mitochondrial diseases and aging, but the molecular mechanisms of mtDNA segregation are elusive. Lack of high-throughput single-cell mutation load assays lies at the root of the paucity of studies in which, at the single-cell level, mitotic mtDNA segregation patterns have been...

Escherichia coli strains carrying null alleles of genes encoding single-strand-specific exonucleases ExoI and ExoVII display elevated frameshift mutation rates but not base substitution mutation rates. We characterized increased spontaneous frameshift mutation in ExoI- ExoVII- cells and report that some of this effect requires RecA, an inducible SOS DNA damage response, and the low-fidelity, SO...

Fig. S1: Mutation matrices used in this study. (a) JAK2-negative myeloproliferative neoplasm: single-cell exome sequencing of 58 tumor cells, 18 mutation sites selected for importance out of 712 SNVs [1]. Estimated error rates: 0.4309 for allelic dropout and 6.04 × 10−6 for false discovery, 45% missing data points. The mutation matrix is taken from [2]. Color coding of matrix cells: blue hetero...

Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly understood. We have analyzed the effect of a set of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the...

Bayesian analysis was performed to examine the single-nucleotide polymorphism (SNPs) neighborhood patterns in cattle using 15,110 SNPs, each with a flanking sequence of 500 bp. Our analysis confirmed three well-known features reported in plants and/or other animals: (1) the transition is the most abundant type of SNPs, accounting for 69.8% in cattle; (2) the transversion occurs most frequently ...

To investigate the role of mutant hepatitis B virus (HBV) in the development of hepatocellular carcinoma (HCC), 20 patients with HCC were studied for precore and core promoter mutations in tumorous and nontumorous tissues. The precore and core promoter region was amplified and analyzed by direct sequencing. Among the 20 tumorous and nontumorous tissues, precore mutant HBV was found in 12 (60%) ...

Litter size is one of the most important economical traits in sheep breeding industry. In addition to minor genes, litter size is under the influence of major genes. Bone morphogenetic protein 15 (BMP-15), a member of the transforming growth factor beta (TGF-ß) superfamily, which is specifically expressed in oocytes, plays a dramatic role in sheep prolificacy. Reported mutations in this gene ca...

Background and Objective: One of the main reasons for the ongoing pandemic is the substitutions in the Receptor binding domain(RBD), which is involved in binding to the ACE2 receptor. Methods: Oro-nasopharyngeal swabs were collected from 41 confirmed patients between September 2020 and May 2021 to analyze the mutations of SARS-CoV-2 RBD in Khuzestan Province. Bi-Directional sequencing was use...