gene expression in eukaryotes requires the excision of introns from pre-mrNas by splicing, which eliminates intervening sequences that interrupt the translation open-reading frame in mrNas. the spliceosome—a complex of small rNas and proteins—recognizes and acts on sequences at the exon–intron junctions—5'-splice site [SS] and 3'-SS—and at the branchpoint (Fig 1). Splicing is traditionally cons...

Congenital deficiency in coagulation factor XIII is a rare autosomal recessive bleeding disorder. Although the defect was characterized over 30 years ago, little is known about the molecular basis of the disorder. Here, we show two novel point mutations in the gene of the A-subunit of factor XIII in the genetically isolated population of Finland. All eight factor XIII-deficient families identif...

BACKGROUND The genetic background of Growth Hormone (GH) secretion is not well understood. Mutations giving rise to a stop codon have a high likelihood of affecting protein function. OBJECTIVES To analyze likely functional stop codon mutations that are associated with fasting plasma concentration of Growth Hormone. METHODS We analyzed stop codon mutations in 5451 individuals in the Malmö Di...

Many viruses use stop codon readthrough as a strategy to produce extended coat or replicase proteins. The stop codon of the barley yellow dwarf virus (PAV serotype) coat protein gene is read through at a low rate. This produces an extended polypeptide which becomes part of the virion. We have analyzed the cis-acting sequences in the barley yellow dwarf virus PAV genome required for this program...

Pseudouridylation of messenger RNA emerges as an abundant modification involved in gene expression regulation. Pseudouridylation of stop codons in eukaryotic and bacterial cells results in stop-codon read through. The structural mechanism of this phenomenon is not known. Here we present a 3.1-Å crystal structure of Escherichia coli release factor 1 (RF1) bound to the 70S ribosome in response to...

The termination of protein synthesis occurs through the specific recognition of a stop codon in the A site of the ribosome by a release factor (RF), which then catalyzes the hydrolysis of the nascent protein chain from the P-site transfer RNA. Here we present, at a resolution of 3.5 angstroms, the crystal structure of RF2 in complex with its cognate UGA stop codon in the 70S ribosome. The struc...

Bacterial canker disease caused by Pseudomonas syringae pv. actinidiae (Psa) biovar 3 involved all global interest since 2008. We have found that in Psa3 genome, similarly to other P. syringae, there are three putative genes, lsc?, lsc? and lsc?, coding for levansucrases. These enzymes, breaking the sucrose moiety releasing glucose can synthetize fructose polymer levan, a hexopolysaccharide is ...