Search results for "MUTATION"
showing 10 items of 2830 documents
The Structure Group and the Permutation Group of a Set-Theoretic Solution of the Quantum Yang–Baxter Equation
2021
We describe the left brace structure of the structure group and the permutation group associated to an involutive, non-degenerate set-theoretic solution of the quantum YangBaxter equation by using the Cayley graph of its permutation group with respect to its natural generating system. We use our descriptions of the additions in both braces to obtain new properties of the structure and the permutation groups and to recover some known properties of these groups in a more transparent way.
Transitive permutation groups in which all derangements are involutions
2006
AbstractLet G be a transitive permutation group in which all derangements are involutions. We prove that G is either an elementary abelian 2-group or is a Frobenius group having an elementary abelian 2-group as kernel. We also consider the analogous problem for abstract groups, and we classify groups G with a proper subgroup H such that every element of G not conjugate to an element of H is an involution.
On permutations of class sums of alternating groups
1997
We prove a result concerning the class sums of the alternating group An; as a consequence we deduce that if θ is a normalized automorphism of the integral group ring then there exists such that is the identity on , where Sn:is the symmetric group and is the center of
Weak commutation relations of unbounded operators and applications
2011
Four possible definitions of the commutation relation $[S,T]=\Id$ of two closable unbounded operators $S,T$ are compared. The {\em weak} sense of this commutator is given in terms of the inner product of the Hilbert space $\H$ where the operators act. Some consequences on the existence of eigenvectors of two number-like operators are derived and the partial O*-algebra generated by $S,T$ is studied. Some applications are also considered.
Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors.
2009
In goats, classical genetic studies reported a large number of alleles at the Agouti locus with effects on coat color and pattern distribution. From these early studies, the dominant A(Wt) (white/tan) allele was suggested to cause the white color of the Saanen breed. Here, we sequenced the coding region of the goat ASIP gene in 6 goat breeds (Girgentana, Maltese, Derivata di Siria, Murciano-Granadina, Camosciata delle Alpi, and Saanen), with different coat colors and patterns. Five single nucleotide polymorphisms (SNPs) were identified, 3 of which caused missense mutations in conserved positions of the cysteine-rich carboxy-terminal domain of the protein (p.Ala96Gly, p.Cys126Gly, and p.Val1…
Role of Symbiosis in Evolution
2013
The biological relevance of the widespread prokaryote–eukaryote symbioses as a source of evolutionary innovation has been unveiled by the advent of the Genomic era, allowing deep knowledge on single or consortia uncultivable species. The establishment and maintenance of symbiosis are complex issues where partners’ fitness determines the evolutionary outcome. Comparative genomics allows to dissect the evolutionary process that begins with host invasion, takes the path from facultative to obligate symbiosis, and ends up in replacement or coexistence with new bacterial symbionts. Whole genomes of several intracellular bacterial symbionts have been sequenced, allowing the comparison among the d…
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
2015
Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…
Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL
2012
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characterized by total cholesterol (TC) and/or LDL cholesterol (LDL-C) levels below the 5th percentile of the reference population. Heterozygous APOB gene mutations are responsible for the majority of the dominant pHBL causing the familial hypobetalipoproteinemia (FHBL). The clinical phenotype of heterozygous FHBL is usually mild. The homozygous or compound heterozygous APOB mutations are in some cases responsible for a more severe biochemical and clinical phenotype, similar to the abetalipoproteinemia (ABL) due to homozygous mutations in the MTP gene, characterized by intestinal malabsorption, pigme…
An Analysis of the Influence of Noneffective Instructions in Linear Genetic Programming
2020
Abstract Linear Genetic Programming (LGP) represents programs as sequences of instructions and has a Directed Acyclic Graph (DAG) dataflow. The results of instructions are stored in registers that can be used as arguments by other instructions. Instructions that are disconnected from the main part of the program are called noneffective instructions, or structural introns. They also appear in other DAG-based GP approaches like Cartesian Genetic Programming (CGP). This article studies four hypotheses on the role of structural introns: noneffective instructions (1) serve as evolutionary memory, where evolved information is stored and later used in search, (2) preserve population diversity, (3)…
Parallelizing Epistasis Detection in GWAS on FPGA and GPU-Accelerated Computing Systems
2015
This is a post-peer-review, pre-copyedit version of an article published in IEEE - ACM Transactions on Computational Biology and Bioinformatics. The final authenticated version is available online at: http://dx.doi.org/10.1109/TCBB.2015.2389958 [Abstract] High-throughput genotyping technologies (such as SNP-arrays) allow the rapid collection of up to a few million genetic markers of an individual. Detecting epistasis (based on 2-SNP interactions) in Genome-Wide Association Studies is an important but time consuming operation since statistical computations have to be performed for each pair of measured markers. Computational methods to detect epistasis therefore suffer from prohibitively lon…