Search results for "SAC"

The clinical spectrum of alpha-L-iduronidase deficiency.

1985

We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.

Development of “universal” gene-specific markers from Malus spp. cDNA sequences, their mapping and use in synteny studies within Rosaceae

2009

The Rosaceae contains many economically valuable crop genera, including Malus (apple), Fragaria (strawberry), and Prunus (stone fruit). There has been increasing interest in the development of linkage maps for these species, with a view to marker-assisted selection to assist breeding programs and, recently, in the development of transferable markers to permit syntenic comparisons of maps of different rosaceous genera. In this investigation, a set of Malus cDNA sequences were downloaded from the European Molecular Biology Laboratory database. The sequences were aligned with homologous full-length Arabidopsis genomic DNA sequences to identify putative intron–exon junctions and conserved flank…

Genomics and the gene transcription kinetics in yeast.

2007

As an adaptive response to new conditions, mRNA concentrations in eukaryotes are readjusted after any environmental change. Although mRNA concentrations can be modified by altering synthesis and/or degradation rates, the rapidity of the transition to a new concentration depends on the regulation of mRNA stability. There are several plausible transcriptional strategies following environmental change, reflecting different degrees of compromise between speed of response and cost of synthesis. The recent development of genomic techniques now enables researchers to determine simultaneously (either directly or indirectly) the transcription rates and mRNA half-lifes, together with mRNA concentrati…

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical …

2014

Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Micr…

Rapid characterization of wild and collection strains of the genus Zygosaccharomyces according to mitochondrial DNA patterns

1997

Several wild and collection strains of the genus Zygosaccharomyces were characterized using a rapid and simple method of restriction analysis of mitochondrial DNA. Patterns obtained with three endonucleases (HaeIII, HinfI and RsaI) made it possible to differentiate each species and to identify the wild strains, isolated from the same spoiled concentrated must, as belonging to the species Z. rouxii. The HinfI restriction enzyme produced a strain-specific pattern which allowed us to recognize that the seven wild isolates belonged to only three strains.

Rapid characterization of four species of the Saccharomyces sensu stricto complex according to mitochondrial DNA patterns

1994

Several strains of the four sibling species of the genus Saccharomyces (S. bayanus, S. cerevisiae, S. paradoxus, and S. pastorianus) were characterized by using a rapid and simple method of restriction analysis of mitochondrial DNA. Patterns obtained with four-cutter endonucleases (such as AluI, DdeI, HinfI, and RsaI) made it possible to differentiate each species. S. cerevisiae and S. paradoxus presented a greater number of large fragments than S. pastorianus and S. bayanus with all the assay enzymes. With AluI and DdeI, species-specific bands clearly permitted differentiation between S. pastorianus and S. bayanus. To test the resolution of this method, wild Saccharomyces strains were anal…

Interactions between the yeast mitochondrial and nuclear genomes: isogenic suppressive and hypersuppressive petites differ in their resistance to the…

1990

In a previous paper we have shown that the alkaloid lycorine inhibits growth of rho+, mit- and rho-, strains of Saccharomyces cerevisiae, whereas strains devoid of mitochondrial DNA (rho degrees) are resistant to more than 200 micrograms/ml of the alkaloid. In this report we show that hypersuppressive petites are almost as resistant as rho degrees mutants, whereas isogenic rho- petites, which have retained longer segments of the genome, are sensitive to the drug.

The molecular characterization of new types of Saccharomyces cerevisiae × S. kudriavzevii hybrid yeasts unveils a high genetic diversity

2012

New double- and triple-hybrid Saccharomyces yeasts were characterized using PCR-restriction fragment length polymorphism of 35 nuclear genes, located on different chromosome arms, and the sequencing of one nuclear and one mitochondrial gene. Most of these new hybrids were originally isolated from fermentations; however, two of them correspond to clinical and dietary supplement isolates. This is the first time that the presence of double-hybrid S. cerevisiae×S. kudriavzevii in non-fermentative substrates has been reported and investigated. Phylogenetic analysis of the MET6 nuclear gene confirmed the double or triple parental origin of the new hybrids. Restriction analysis of gene regions in …

Nucleotide sequence of the unassigned reading frame urf a in the mitochondrial genome of three Schizosaccharomyces pombe strains.

1990

Mitochondrial introgression suggests extensive ancestral hybridization events amongSaccharomycesspecies

2015

1.AbstractHorizontal Gene Transfer (HGT) in eukaryotic plastids and mitochondrial genomes is common, and plays an important role in organism evolution. In yeasts, recent mitochondrial HGT has been suggested betweenS. cerevisiaeandS. paradoxus. However, few strains have been explored due to the lack of accurate mitochondrial genome annotations. Mitochondrial genome sequences are important to understand how frequent these introgressions occur and their role in cytonuclear incompatibilities and fitness. In fact, most of the Bateson-Dobzhansky-Muller genetic incompatibilities described in yeasts are driven by cytonuclear incompatibilities. In this study, we have explored the mitochondrial inher…