Centrioles and basal bodies are cylinders composed of nine triplet microtubule blades that play essential roles in the centrosome and in flagellar assembly. Chlamydomonas cells with the bld2-1 mutation fail to assemble doublet and triplet microtubules and have defects in cleavage furrow placement and meiosis. Using positional cloning, we have walked 720 kb and identified a 13.2-kb fragment that...

Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...

Maximum parsimony analysis identified one CYP4V10 gene with two putative allelic variants (CYP4V10v1 and CYP4V10v2) that share 98.8% amino acid identity (Fig. 4, part A) but differ by a five amino acid insertion near their C-terminus end. Five of the 65 clones within the CYP4V10 subfamily also contained a 68 bp deletion causing a frame shift, resulting in a premature stop codon and a loss of 15...

Terminating protein translation accurately and efficiently is critical for both protein fidelity and ribosome recycling for continued translation. The three bacterial release factors (RFs) play key roles: RF1 and 2 recognize stop codons and terminate translation; and RF3 promotes disassociation of bound release factors. Probing release factors mutations with reporter constructs containing progr...

The Rockefeller University Press $30.00 J. Cell Biol. Vol. 204 No. 5 683–696 www.jcb.org/cgi/doi/10.1083/jcb.201307158 JCB 683 Correspondence to Tsuyoshi Morita: [email protected] Abbreviations used in this paper: ARP, actin-related protein; BS3, bis(sulfosuccinimidyl) suberate; ChIP, chromatin immunoprecipitation; CHX, cycloheximide; DBD, DNA binding domain; G-actin, globular ac...

Metronidazole resistance in the sexually transmitted parasite Trichomonas vaginalis is a problematic public health issue. We have identified single nucleotide polymorphisms (SNPs) in two nitroreductase genes (ntr4Tv and ntr6Tv) associated with resistance. These SNPs were associated with one of two distinct T. vaginalis populations identified by multilocus sequence typing, yet one SNP (ntr6Tv A2...

IncA variation among Dutch Chlamydia trachomatis isolates was investigated. Of 98 strains, two carried an incA with a premature stop codon, lacked IncA, and were nonfusogenic, while 96 contained an intact incA, expressed IncA, and were fusogenic. Among these 96 strains, nine IncA sequence types were found, of which the three most frequently encountered (88% of the strains) were randomly distrib...

A search for suppressors of the carnitine/acylcarnitine translocase (CACT) deficiency in Aspergillus nidulans permitted the identification of the suaE7 mutation, mapping at a new translational suppressor (suaE) gene. The suaE gene is essential in A. nidulans and encodes the eukaryotic release factor 1 (eRF1). The suaE7 mutation suppresses two acuH alleles (acuH13 and acuH31), both carrying nons...

Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or deletion (indel) of three nucleotides. We identified such a mechanism as the o...

In-frame stop codons normally signal termination during mRNA translation, but they can be read as 'sense' (readthrough) depending on their context, comprising the 6 nt preceding and following the stop codon. To identify novel contexts directing readthrough, under-represented 5' and 3' stop codon contexts from Saccharomyces cerevisiae were identified by genome-wide survey in silico. In contrast ...