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Your search keyword '"Pothof, Joris"' showing total 4 results
Start Over Author "Pothof, Joris" Publisher cold spring harbor laboratory press
4 results on '"Pothof, Joris"'

1. Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

Author

Jager, Myrthe, Blokzijl, Francis, Kuijk, Ewart, Bertl, Johanna, Vougioukalaki, Maria, Janssen, Roel, Besselink, Nicolle, Boymans, Sander, de Ligt, Joep, Pedersen, Jakob Skou, Hoeijmakers, Jan, Pothof, Joris, van Boxtel, Ruben, Cuppen, Edwin, Jager, Myrthe, Blokzijl, Francis, Kuijk, Ewart, Bertl, Johanna, Vougioukalaki, Maria, Janssen, Roel, Besselink, Nicolle, Boymans, Sander, de Ligt, Joep, Pedersen, Jakob Skou, Hoeijmakers, Jan, Pothof, Joris, van Boxtel, Ruben, and Cuppen, Edwin

Published
2019

2. Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

Author

CMM Groep De Ridder, Child Health, CMM Groep Cuppen, Cancer, CMM, Jager, Myrthe, Blokzijl, Francis, Kuijk, Ewart, Bertl, Johanna, Vougioukalaki, Maria, Janssen, Roel, Besselink, Nicolle, Boymans, Sander, de Ligt, Joep, Pedersen, Jakob Skou, Hoeijmakers, Jan, Pothof, Joris, van Boxtel, Ruben, Cuppen, Edwin, CMM Groep De Ridder, Child Health, CMM Groep Cuppen, Cancer, CMM, Jager, Myrthe, Blokzijl, Francis, Kuijk, Ewart, Bertl, Johanna, Vougioukalaki, Maria, Janssen, Roel, Besselink, Nicolle, Boymans, Sander, de Ligt, Joep, Pedersen, Jakob Skou, Hoeijmakers, Jan, Pothof, Joris, van Boxtel, Ruben, and Cuppen, Edwin

Published
2019

3. Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi

Author

Pothof, Joris, Haaften, Gijs van, Thijssen, Karen, Kamath, Ravi S., Fraser, Andrew G., Ahringer, Julie, Plasterk, Ronald H. A., and Tijsterman, Marcel

Subjects
Genetic research -- Analysis, Genomes -- Physiological aspects, Caenorhabditis elegans -- Genetic aspects, Gene mutations -- Physiological aspects, RNA -- Genetic aspects, Heredity -- Physiological aspects, Biological sciences
Abstract

Research has been conducted on genome stability in Caenorhabditis elegans somatic cells. The authors report the use of RNA interference-based ganome-wide screen in order to detect genes contributing to genome stability in C. elegans.

Published
2003

4. Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer.

Author

Jager M, Blokzijl F, Kuijk E, Bertl J, Vougioukalaki M, Janssen R, Besselink N, Boymans S, de Ligt J, Pedersen JS, Hoeijmakers J, Pothof J, van Boxtel R, and Cuppen E

Subjects
Adult Stem Cells, Animals, Breast Neoplasms genetics, Cohort Studies, DNA Mutational Analysis, DNA, Neoplasm, DNA-Binding Proteins genetics, Endonucleases genetics, Female, Humans, Mice, Organoids, Tissue Culture Techniques, Whole Genome Sequencing, DNA Repair genetics, Mutation, Neoplasms genetics
Abstract

Nucleotide excision repair (NER) is one of the main DNA repair pathways that protect cells against genomic damage. Disruption of this pathway can contribute to the development of cancer and accelerate aging. Mutational characteristics of NER-deficiency may reveal important diagnostic opportunities, as tumors deficient in NER are more sensitive to certain treatments. Here, we analyzed the genome-wide somatic mutational profiles of adult stem cells (ASCs) from NER-deficient Ercc1 -/Δ mice. Our results indicate that NER-deficiency increases the base substitution load twofold in liver but not in small intestinal ASCs, which coincides with the tissue-specific aging pathology observed in these mice. Moreover, NER-deficient ASCs of both tissues show an increased contribution of Signature 8 mutations, which is a mutational pattern with unknown etiology that is recurrently observed in various cancer types. The scattered genomic distribution of the base substitutions indicates that deficiency of global-genome NER (GG-NER) underlies the observed mutational consequences. In line with this, we observe increased Signature 8 mutations in a GG-NER-deficient human organoid culture, in which XPC was deleted using CRISPR-Cas9 gene-editing. Furthermore, genomes of NER-deficient breast tumors show an increased contribution of Signature 8 mutations compared with NER-proficient tumors. Elevated levels of Signature 8 mutations could therefore contribute to a predictor of NER-deficiency based on a patient's mutational profile., (© 2019 Jager et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2019
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