Sentences with phrase «codon mutations»

This implicates putative master regulator genes in which multiple independent stop codon mutations have convergently led to culture adaptation, affecting most laboratory lines of P. falciparum.

A dominant mutation in the Chlamydomonas reinhardtii nuclear gene SIM30 suppresses translational defects caused by initiation codon mutations in chloroplast genes

Conversely, an earlier age at breast cancer diagnosis was associated with nonpremature termination codon mutations and the founder mutations (Table 3).

Not exact matches

The researchers say that the mutation in codon 127 appears to confer protection by preventing prion proteins from becoming misshapen.

But transgenic mice with the codon - 127 mutation were completely resistant to kuru and CJD regardless of whether they bore one or two copies of it.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

«When we mutated the GAA codons to GAG — a «silent» mutation because they both spell out the protein building block glutamic acid — we found that increasing the amount of tRNA no longer increased protein levels,» explains Tavazoie.

Mutations conferring NMD or premature termination codon were associated with a later age at breast cancer diagnosis.

Mutation - selection models of codon substitution and their use to estimate selective strengths on codon usage Yang, Z. and R. Nielsen.

Mutation - selection models of codon substitution and their use to estimate selective strengths on codon usage.

Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.

A specific codon (34) in U2AF1 harbored missense mutations in multiple AML tumors, suggesting a gain - of - function for the splicing factor encoded by that gene.

In ongoing projects, we aim to elucidate the mechanism and regulation of selenocysteine incorporation by determining how ribosomes distinguish between UGA / Sec and UGA / Stop codons, how mutations in SBP2 impact the expression of the selenoproteome, and how the hierarchy of selenoprotein synthesis is regulated in selenium deficiency.

Recently, we and others identified a recurrent somatic activating mutation in the JAK2 tyrosine kinase in polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM).9 - 13 This mutation results in a valine to phenylalanine substitution at codon 617 within the Jak homology domain 2 (JH2) pseudokinase domain of Janus kinase 2 (JAK2).

The second most common mutation type in the FLT3 gene is a Tyrosine Kinase Domain (TKD) point mutation in the codon for an aspartate (D835) or an isoleucine (I836) residue that is located in the activation loop of the FLT3 protein.

Out of a total of five positively selected SNPs, four represented nonsense mutations resulting in stop codons, three of these in a single ApiAP2 transcription factor gene, and one in SRPK1.

The mutation is a 44 bp insertion of a A29 tract flanked by a 15 bp duplication in exon 2 of the gene, that creates a frameshift and introduces a premature stop codon early in exon 3.

Very recently the causal mutation has been identified by two research groups almost simultaneously, as a large genomic deletion of ADAM9 (A Disintegrin And Metalloprotease domain, family member 9) that removes exons 15 and 16 of the ADAM9 transcript [53, 54] and generates a premature stop codon that is predicted to result in a truncated protein that lacks critical domains.

The mutation is a G → A substitution at c. 1473 + 1, which destroys a splice donor recognition site in intron 10 and causes exon skipping that results in a frameshift and the introduction of a premature termination codon [129].

The mutation leads to a frameshift and a premature stop codon.

In Great Pyrenees, English Mastiff, and bullmastiff dogs, a C73T mutation in exon 2 causes a premature translation termination that limits the open - reading frame to 25 codons, compared with 580 codons in the wild - type mRNA (cmr1) and in Coton de Tulears a G482A transition changes an evolutionarily conserved glycine residue to aspartic acid (cmr2).