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Heterozygous colon ...
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Rentoft, MatildaUmeå universitet,Institutionen för medicinsk kemi och biofysik,Kemiska institutionen
(author)
Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2016-04-11
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Proceedings of the National Academy of Sciences,2016
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-119232
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119232URI
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https://doi.org/10.1073/pnas.1519128113DOI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Even small variations in dNTP concentrations decrease DNA replication fidelity, and this observation prompted us to analyze genomic cancer data for mutations in enzymes involved in dNTP metabolism. We found that sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1), a deoxyribonucleoside triphosphate triphosphohydrolase that decreases dNTP pools, is frequently mutated in colon cancers, that these mutations negatively affect SAMHD1 activity, and that severalSAMHD1mutations are found in tumors with defective mismatch repair. We show that minor changes in dNTP pools in combination with inactivated mismatch repair dramatically increase mutation rates. Determination of dNTP pools in mouse embryos revealed that inactivation of oneSAMHD1allele is sufficient to elevate dNTP pools. These observations suggest that heterozygous cancer-associatedSAMHD1mutations increase mutation rates in cancer cells.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Lindell, KristofferUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)krrlil02
(author)
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Tran, PhongUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)trph0003
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Chabes, Anna LenaUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)anch0001
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Buckland, RobertUmeå universitet,Institutionen för medicinsk kemi och biofysik,Andrei Chabes(Swepub:umu)robu0005
(author)
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Watt, Danielle L.Umeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)dawa0038
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Marjavaara, LisetteUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)lietoa93
(author)
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Nilsson, Anna KarinUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)anni0002
(author)
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Melin, BeatriceUmeå universitet,Institutionen för strålningsvetenskaper(Swepub:umu)bema0010
(author)
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Trygg, JohanUmeå universitet,Kemiska institutionen(Swepub:umu)jotr0001
(author)
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Johansson, ErikUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)erjo0002
(author)
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Chabes, AndreiUmeå universitet,Institutionen för medicinsk kemi och biofysik(Swepub:umu)anch0002
(author)
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Umeå universitetInstitutionen för medicinsk kemi och biofysik
(creator_code:org_t)
Related titles
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In:Proceedings of the National Academy of Sciences of the United States of America: Proceedings of the National Academy of Sciences113:17, s. 4723-47280027-84241091-6490
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Rentoft, Matilda
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Lindell, Kristof ...
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Tran, Phong
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Chabes, Anna Len ...
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Buckland, Robert
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Watt, Danielle L ...
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Marjavaara, Lise ...
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Nilsson, Anna Ka ...
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Melin, Beatrice
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Trygg, Johan
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Johansson, Erik
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Chabes, Andrei
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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Proceedings of t ...
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Umeå University