Search results for "SAC"

Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene

1993

A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. All patients with full deletions or gross rearrangements have severe clinical presentations. Twenty-nine different "small" mutations have so far been characterised in a total of 32 patients. These include 4 nons…

Natural hybrids of S. cerevisiae×S. kudriavzevii share alleles with European wild populations of Saccharomyces kudriavzevii

2010

Saccharomyces kudriavzevii, a yeast species described from a pair of strains isolated from decayed leaves in Japan, has recently been isolated from oak barks in Portugal. Some data suggest that these European S. kudriavzevii populations could be closely related to the S. kudriavzevii genetic background present in natural hybrids isolated from wines and beers in different regions of Europe. However, a more exhaustive study of European S. kudriavzevii natural populations is necessary to confirm this observation. In this study, new S. kudriavzevii isolates were recovered from oak trees in different areas in Spain, and identified and characterized according to their molecular and physiological …

Analysis of the genetic variability in the species of theSaccharomyces sensu strictocomplex

2003

Random amplified polymorphic DNA–polymerase chain reaction (RAPD–PCR) analysis was applied to differentiate the sibling species Saccharomyces bayanus, S. cerevisiae, S. paradoxus and S. pastorianus, which constitute the most common strains of the Saccharomyces sensu stricto complex. Six decamer primers of arbitrary sequences were used to amplify the DNA of 58 strains. Species-specific (diagnostic) bands were obtained for each species. Two phylogenetic trees constructed by the neighbour-joining and maximum parsimony methods clearly showed that the delimitation of these related yeast species is possible by using RAPD analysis. Four groups of strains, corresponding to the species S. bayanus, S…

Molecular characterisation of the species of the genus Zygosaccharomyces.

2003

The restriction fragments polymorphisms of the mitochondrial DNA and the PCR fragment that comprised the internal transcribes spacers and the 5.8S rRNA gene, together with the electrophoretic karyotypes of 40 strains from the 10 species of the genus Zygosaccharomyces, including the new species Z. lentus were examined. The RFLP's of the ITS-5.8S region showed a specific restriction pattern for each species, including the new species Z. lentus. The only exception were the species Z. cidri and Z. fermentati that produced identical restriction profiles. The electrophoretic chromosome patterns confirmed the differences between the species of this genus, including the phylogenetic closest species…

Functional analysis of yeast gene families involved in metabolism of vitamins B1and B6

2002

In order to clarify their physiological functions, we have undertaken a characterization of the three-membered gene families SNZ1-3 and SNO1-3. In media lacking vitamin B(6), SNZ1 and SNO1 were both required for growth in certain conditions, but neither SNZ2, SNZ3, SNO2 nor SNO3 were required. Copies 2 and 3 of the gene products have, in spite of their extremely close sequence similarity, slightly different functions in the cell. We have also found that copies 2 and 3 are activated by the lack of thiamine and that the Snz proteins physically interact with the thiamine biosynthesis Thi5 protein family. Whereas copy 1 is required for conditions in which B(6) is essential for growth, copies 2 …

The primary structure of cytoplasmic initiator tRNAMetfromSchizosaccharomyces pombe

1993

Construction of a Trp commercial baker?s yeast strain by using food-safe-grade dominant drug resistance cassettes

2003

We have designed a food-safe-grade module for gene disruptions in commercial baker's yeast strains, which contains the G418 resistance cassette, KanMX4, flanked by direct repeats from the MEL1 gene of Saccharomyces cerevisiae. This module was used to obtain a Trp(-) auxotrophic mutant of the polyploid HY strain by successive targeting to the TRP1 locus and later in vivo excision of the kan(r) marker. Southern blot analysis indicated that HY contains five copies of the TRP1 gene. However, after four disruption rounds, a strain named HYtrpM(4), unable to grow in the absence of tryptophan, was selected. Southern and Northern analysis of HYtrpM(4) cells showed that a remaining functional wild-t…

Genomic response programs of Saccharomyces cerevisiae following protoplasting and regeneration.

2007

Abstract Global transcription profiling during regeneration of Saccharomyces cerevisiae protoplasts was explored. DNA microarrays measured the expression of 6388 genes and wall removal resulted initially in over-expression of 861 genes that decayed later on, a behaviour expected from a transient stress response. Kinetics of expression divided the genes into 25 clusters. Transcription of the genes from clusters 14–25 was initially up-regulated, suggesting that the grouped genes permitted cell adaptation to the removal of the wall. Clustering of genes involved in “wall structure and biosynthesis” showed that most of them had initially low levels of expression that increased along the process.…

A rapid method for the screening of plasmids in transformed yeast strains

1988

A method for the rapid screening of plasmids in yeast cells has been developed. The method is an adaptation of the currently used alkaline lysis methods forEscherichia coli plasmids. Following the conditions described, several dozen ofSaccharomyces cerevisiae-transformed clones can be analyzed for their plasmid content in less than 2 h. The plasmids obtained by this procedure are suitable for restriction analysis or forE. coli andS. cerevisiae transformation.

123 MOLECULAR GENETIC ANALYSIS IN HUNTER DISEASE

1991

Clinical and biochemical studies have revealed a great phenotypic variability in mucopolysaccharidosis type II (Hunter disease), probably due to different mutations in the IDS gene that has been localized in Xq28. Using a cDNA probe containing almost the entire coding region of the human IDS gene, we performed a molecular analysis on 7 patients with Hunter disease. In one patient, a complete deletion of the IDS coding sequences was found. Another patient had structural alterations of the IDS gene including a partial deletion. In 5 patients, however, after restriction digestion of the DNA by PstI and TaqI and Southern hybridization with the IDS cDNA, the audiographic patterns obtained were s…