background: previous studies have shown that leukemogenic chromosomal translocations, including fusions between break point cluster region (bcr) and abelson (abl) are present in the peripheral blood of healthy individuals. the aim of this study was to gain insights into the genetic alterations other than bcr-abl translocation in molecular level, which cause chronic myeloid leukemia (cml). metho...

friedreichs ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein frataxin. frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. mitochondrial dna (mtdna) could be considered a candidate modifier factor for frda disease, since mitochondrial oxidative stress is thought to be involved in the p...

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...

Escherichia coli strains w?th increased expression of t’he cloned yeast his3 gene were selected. In some mutants an E. co/i chromosomal locus is altered; in others the yrast his3 sequence is affected. Alterations of the his3 sequence include a point mutation, deletion, and IS2 insert’ion. When IS2 insert’s into the yeast sequence, all pre-existing copies of IS2 are maintained in t,heir original...

We report here that a point mutation in the gene which encodes the heterochromatin-specific nonhistone chromosomal protein HP-1 in Drosophila melanogaster is associated with dominant suppression of position-effect variegation. The mutation, a G-to-A transition at the first nucleotide of the last intron, causes missplicing of the HP-1 mRNA. This suggests that heterochromatin-specific proteins pl...

In yeast strains bearing the point mutation called GAL11P (for potentiator), certain GAL4 derivatives lacking any classical activating region work as strong activators. The P mutation confers upon GAL11, a component of the RNA polymerase II holoenzyme, the ability to interact with a portion of the dimerization region of GAL4. The region of GAL11 affected by the P mutation is evidently functiona...

Evolutionary strategies depend on the ability of evolving entities to conserve acquired features and to quickly adapt to new requirements as well. We use computer simulations of simplified exact biopolymers models to investigate the influence of mutations on structure formation. Our computations on large ensembles of random RNA secondary structures show that the sequence to structure mapping is...

The mutation and cross-over operators are, with selection, the foundation of genetic algorithms. We show in this paper, some possibilities offered by these operators. Having explained the specificity of the most known operators (1-point, p-point and uniform cross-over, classical and deterministic mutation) we introduce new crossover and mutation operators with a low cost in term of execution ti...

We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus fro...