Crigler-Najjar syndrome is a rare autosomal recessive disease caused by mutations in the UGT1A1 gene. These mutations result in the deficiency of UGT1A1, a hepatic enzyme essential for bilirubin conjugation. This report describes the case of a 4-month-old boy with the cardinal symptoms of Crigler-Najjar syndrome type II. Molecular genetic analysis showed a homozygous UGT1A1 promoter mutation [A...

The study objective was to investigate whether the strain of L. monocytogenes serotype 1/2c isolated from neonatal listeriosis carries a premature stop codon (PMSC) mutation in the inlA gene. The strain was characterized by serotyping, macrorestriction analysis after digestion with the restriction enzyme AscI, and sequencing of the inlA gene. The tested strain of serotype 1/2c and pulsotype 1 p...

There is an incorrect term used in a sentence in the Results section under the header ''TepP is required for the recruitment of Crk to nascent inclusions.'' The correct sentence is: We identified 6 strains with mutations in TepP, including strain CTL2-M062, bearing a G to A transition that led to a premature stop codon at amino acid 103 (W103*). Copyright: ß 2014 The PLOS Pathogens Staff. This ...

Glutamate-inserting ochre suppressors have been identified among late-arising, spontaneous revertants of a hisG428 mutant of Salmonella typhimurium and an argE3 mutant of Escherichia coli. The S. typhimurium suppressors mapped in the tRNA2(Glu) gene gltU at 82 min; those in E. coli were found to be in tRNA2(Glu) genes gltW at 56 min, gltU at 85 min, and gltT at 90 min.

Truncated antenna size of photosystems and lower leaf chlorophyll content has been shown to increase photosynthetic efficiency biomass accumulation in microalgae, cyanobacteria higher plants grown under high-density cultivation conditions. Here, we have asked whether this strategy is also applicable a major crop by characterizing the barley mutant happy sun 1 (hus1). The pale green phenotype hu...

This study aims to compare the resistance phenotypes conferred by various genes encoding enzymes that phosphorylate erythromycin. The mph genes were cloned into Escherichia coli AG100A susceptible to macrolides and ketolides following disruption of the AcrAB pump. An 882 bp sequence containing a premature stop codon, homologous to the three other previously described mph genes and present widel...

Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000,...

TheDNAsequenceof the coding regionof thewild-type andmutant alleles of thewhite eyegene fromthemelonßy,Bactrocera cucurbitaeCoquillett,wasobtained.Themutantwhite eyeallele had a single base pair mutation at the 5 end of intron 4b in the RNA splice recognition site. Due to the disrupted splice recognition site, intron 4bwas not removed from themutant RNA transcript. The resulting mRNA transcript...

Three novel mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese classical phenylketonuria (PKU) patients. Two of these substitutions (W326X and Y356X) result in the generation of a premature stop codon, while the third (IVS-7nt2) alters an invariant dinucleotide splicing signal. These mutations together account for about 10% of all PKU alleles in the Chinese p...

Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated leukemia and subsequently achieved clinical and molecular remission without chemotherapy. Cytogenetics and molecular analysis have shown trisomy 21 ...