Sökning: onr:"swepub:oai:DiVA.org:su-179705" > Whole genome DNA se...
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000 | 07669naa a2200793 4500 | |
001 | oai:DiVA.org:su-179705 | |
003 | SwePub | |
008 | 200304s2019 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:umu-168575 | |
009 | oai:DiVA.org:liu-169194 | |
009 | oai:DiVA.org:uu-406907 | |
009 | oai:prod.swepub.kib.ki.se:142899767 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1797052 URI |
024 | 7 | a https://doi.org/10.1186/s13059-019-1892-z2 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1685752 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1691942 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4069072 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1428997672 URI |
040 | a (SwePub)sud (SwePub)umud (SwePub)liud (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Franco, Ireneu Karolinska Institutet4 aut |
245 | 1 0 | a Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type |
264 | c 2019-12-18 | |
264 | 1 | b Springer Science and Business Media LLC,c 2019 |
338 | a print2 rdacarrier | |
520 | a Background: The lifelong accumulation of somatic mutations underlies age-related phenotypes and cancer. Mutagenic forces are thought to shape the genome of aging cells in a tissue-specific way. Whole genome analyses of somatic mutation patterns, based on both types and genomic distribution of variants, can shed light on specific processes active in different human tissues and their effect on the transition to cancer. Results: To analyze somatic mutation patterns, we compile a comprehensive genetic atlas of somatic mutations in healthy human cells. High-confidence variants are obtained from newly generated and publicly available whole genome DNA sequencing data from single non-cancer cells, clonally expanded in vitro. To enable a well-controlled comparison of different cell types, we obtain single genome data (92% mean coverage) from multi-organ biopsies from the same donors. These data show multiple cell types that are protected from mutagens and display a stereotyped mutation profile, despite their origin from different tissues. Conversely, the same tissue harbors cells with distinct mutation profiles associated to different differentiation states. Analyses of mutation rate in the coding and non-coding portions of the genome identify a cell type bearing a unique mutation pattern characterized by mutation enrichment in active chromatin, regulatory, and transcribed regions. Conclusions: Our analysis of normal cells from healthy donors identifies a somatic mutation landscape that enhances the risk of tumor transformation in a specific cell population from the kidney proximal tubule. This unique pattern is characterized by high rate of mutation accumulation during adult life and specific targeting of expressed genes and regulatory regions. | |
650 | 7 | a NATURVETENSKAPx Biologi0 (SwePub)1062 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciences0 (SwePub)1062 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
653 | a Somatic mutations | |
653 | a Aging | |
653 | a Kidney cancer | |
653 | a Proximal tubule | |
653 | a kidney progenitors | |
700 | 1 | a Helgadottir, Hafdis T.u Karolinska Institutet4 aut |
700 | 1 | a Moggio, Aldou Department of Medicine Huddinge, Integrated Cardio Metabolic Center, Karolinska Institutet, Huddinge, Sweden,Karolinska Inst, Integrated Cardio Metab Ctr, Dept Med Huddinge, Huddinge, Sweden4 aut |
700 | 1 | a Larsson, Malin,d 1977-u Linköpings universitet,Bioinformatik,Tekniska fakulteten,Linkoping Univ, Dept Phys Chem & Biol, Sci Life Lab, Linkoping, Sweden4 aut0 (Swepub:liu)malla74 |
700 | 1 | a Vrtacnik, Peteru Karolinska Institutet4 aut |
700 | 1 | a Johansson, Anna C. V.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för cell- och molekylärbiologi4 aut0 (Swepub:uu)anjoh226 |
700 | 1 | a Norgren, Ninau Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten),Science for Life Laboratory, Department of Molecular Biology, Umeå University, Umeå, Sweden,Umea Univ, Dept Mol Biol, Sci Life Lab, Umea, Sweden4 aut0 (Swepub:umu)niakan04 |
700 | 1 | a Lundin, Päru Stockholms universitet,Nordiska institutet för teoretisk fysik (Nordita),Science for Life Laboratory (SciLifeLab),Department of Biosciences and Nutrition, Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden, Science for Life Laboratory, Department of Biochemistry and Biophysics (DBB), Stockholm University, Stockholm, Sweden,Karolinska Inst, Ctr Innovat Med, Dept Biosci & Nutr, Huddinge, Sweden;Stockholm Univ, DBB, Sci Life Lab, Stockholm, Sweden4 aut0 (Swepub:su)prlu0183 |
700 | 1 | a Mas-Ponte, Davidu Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain,Barcelona Inst Sci & Technol, Genome Data Sci, Inst Res Biomed IRB Barcelona, Barcelona 08028, Spain4 aut |
700 | 1 | a Nordstrom, Johanu Karolinska Institutet4 aut |
700 | 1 | a Lundgren, Torbjornu Karolinska Institutet4 aut |
700 | 1 | a Stenvinkel, Peteru Karolinska Institutet4 aut |
700 | 1 | a Wennberg, Larsu Karolinska Institutet4 aut |
700 | 1 | a Supek, Franu Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain,Barcelona Inst Sci & Technol, Genome Data Sci, Inst Res Biomed IRB Barcelona, Barcelona 08028, Spain;ICREA, Barcelona, Spain4 aut |
700 | 1 | a Eriksson, Mariau Karolinska Institutet4 aut |
710 | 2 | a Karolinska Institutetb Department of Medicine Huddinge, Integrated Cardio Metabolic Center, Karolinska Institutet, Huddinge, Sweden4 org |
773 | 0 | t Genome Biologyd : Springer Science and Business Media LLCg 20:1q 20:1x 1465-6906x 1474-760X |
856 | 4 | u https://doi.org/10.1186/s13059-019-1892-zy Fulltext |
856 | 4 | u https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-019-1892-z |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1412144/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://liu.diva-portal.org/smash/get/diva2:1466322/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1415971/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-179705 |
856 | 4 8 | u https://doi.org/10.1186/s13059-019-1892-z |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-168575 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-169194 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-406907 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:142899767 |
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