Katja Ludin

Kantonsspital Aarau

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The Meiotic Recombination Hot Spot ura4A in Schizosaccharomyces pombe

Genetics (2004)

Michel Baur Edgar Hartsuiker Elisabeth Lehmann Katja Ludin Peter Münz

The meiotic recombination hot spot ura4A (formerly ura4-aim) of Schizosaccharomyces pombe was observed at the insertion of the ura4+ gene 15 kb centromere-proximal to ade6 on chromosome III. Crosses heterozygous for the insertion showed frequent conversion at the heterology with preferential loss of the insertion. This report concerns the characterization of 12 spontaneous ura4A mutants. A gradient of conversion ranging from 18% at the 5' end to 6% at the 3' end was detected. A novel phenomenon also was discovered: a mating-type-related bias of conversion. The allele entering with the h+ parent acts preferentially as the acceptor for conversion (ratio of 3:2). Tetrad analysis of two-factor crosses showed that heteroduplex DNA is predominantly asymmetrical, enters from the 5' end, and more often than not covers the entire gene. Restoration repair of markers at the 5' end was inferred. Random spore analyses of two-factor crosses and normalization of prototroph-recombinant frequencies to physical distance led to the demonstration of map expansion: Crosses involving distant markers yielded recombinant frequencies higher than the sum of the frequencies measured in the subintervals. Finally, marker effects on recombination were defined for two of the ura4A mutations.

Heteroduplex

Gene conversion

Schizosaccharomyces

Inverted repeat

Tetrad

Chromosomal crossover

10.1534/genetics.104.033647

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Citations (9)

First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

Bone Abstracts (2016)

Uschi Lindert Wayne Cabral Surasawadee Ausavarat Siraprapa Tongkobpetch Katja Ludin

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Proteolysis

Bone matrix

10.1530/boneabs.5.lb9

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Citations (0)

The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment

Otology & Neurotology (2017)

Nicolas Gürtler Benno Röthlisberger Katja Ludin Christoph Schlegel Anil K. Lalwani

Objective: Identification of the causative mutation using next-generation sequencing in autosomal-dominant hereditary hearing impairment, as mutation analysis in hereditary hearing impairment by classic genetic methods, is hindered by the high heterogeneity of the disease. Patients: Two Swiss families with autosomal-dominant hereditary hearing impairment. Intervention: Amplified DNA libraries for next-generation sequencing were constructed from extracted genomic DNA, derived from peripheral blood, and enriched by a custom-made sequence capture library. Validated, pooled libraries were sequenced on an Illumina MiSeq instrument, 300 cycles and paired-end sequencing. Technical data analysis was performed with SeqMonk, variant analysis with GeneTalk or VariantStudio. The detection of mutations in genes related to hearing loss by next-generation sequencing was subsequently confirmed using specific polymerase-chain-reaction and Sanger sequencing. Main Outcome Measure: Mutation detection in hearing-loss-related genes. Results: The first family harbored the mutation c.5383+5delGTGA in the TECTA -gene. In the second family, a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1 -gene and a second mutation TCOF1- c.1028G>A were identified. Conclusion: Next-generation sequencing successfully identified the causative mutation in families with autosomal-dominant hereditary hearing impairment. The results helped to clarify the pathogenic role of a known mutation and led to the detection of a novel one. NGS represents a feasible approach with great potential future in the diagnostics of hereditary hearing impairment, even in smaller labs.

Sanger sequencing

Hereditary Diseases

10.1097/mao.0000000000001432

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Citations (4)

Frontmatter

De Gruyter eBooks (1943)

Des Kolonialpolitischen Amtes Der Nsdap Erich H Becker W Beetz

10.1515/9783111435763-fm

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Citations (0)

Functional interactions among members of the meiotic initiation complex in fission yeast

Current Genetics (2010)

Silvia Steiner Jürg Kohli Katja Ludin

Schizosaccharomyces

RAD52

10.1007/s00294-010-0296-0

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Citations (32)

Sip5 Interacts With Both the Reg1/Glc7 Protein Phosphatase and the Snf1 Protein Kinase of Saccharomyces cerevisiae

Genetics (2000)

Pascual Sanz Katja Ludin Marian Carlson

Abstract The Snf1 protein kinase is an essential component of the glucose starvation signalling pathway in Saccharomyces cerevisiae. We have used the two-hybrid system to identify a new protein, Sip5, that interacts with the Snf1 kinase complex in response to glucose limitation. Coimmunoprecipitation studies confirmed the association of Sip5 and Snf1 in cell extracts. We found that Sip5 also interacts strongly with Reg1, the regulatory subunit of the Reg1/Glc7 protein phosphatase 1 complex, in both two-hybrid and coimmunoprecipitation assays. Previous work showed that Reg1/Glc7 interacts with the Snf1 kinase under glucose-limiting conditions and negatively regulates its activity. Sip5 is the first protein that has been shown to interact with both Snf1 and Reg1/Glc7. Genetic analysis showed that the two-hybrid interaction between Reg1 and Snf1 is reduced threefold in a sip5Δ mutant. These findings suggest that Sip5 facilitates the interaction between the Reg1/Glc7 phosphatase and the Snf1 kinase.

Immunoprecipitation

Protein phosphatase 1

Cyclin-dependent kinase complex

ASK1

Snf3

10.1093/genetics/154.1.99

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Citations (30)

Sites of strong Rec12/Spo11 binding in the fission yeast genome are associated with meiotic recombination and with centromeres

Chromosoma (2008)

Katja Ludin Juan Mata Stephen Watt Elisabeth Lehmann Jürg Bähler

Developmental Biology