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FältnamnIndikatorerMetadata
00007669naa a2200793 4500
001oai:DiVA.org:su-179705
003SwePub
008200304s2019 | |||||||||||000 ||eng|
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0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1797052 URI
0247 a https://doi.org/10.1186/s13059-019-1892-z2 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1685752 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1691942 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4069072 URI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Franco, Ireneu Karolinska Institutet4 aut
2451 0a 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 1b 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 7a NATURVETENSKAPx Biologi0 (SwePub)1062 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciences0 (SwePub)1062 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a 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
7001 a Helgadottir, Hafdis T.u Karolinska Institutet4 aut
7001 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
7001 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
7001 a Vrtacnik, Peteru Karolinska Institutet4 aut
7001 a Johansson, Anna C. V.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för cell- och molekylärbiologi4 aut0 (Swepub:uu)anjoh226
7001 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
7001 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
7001 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
7001 a Nordstrom, Johanu Karolinska Institutet4 aut
7001 a Lundgren, Torbjornu Karolinska Institutet4 aut
7001 a Stenvinkel, Peteru Karolinska Institutet4 aut
7001 a Wennberg, Larsu Karolinska Institutet4 aut
7001 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
7001 a Eriksson, Mariau Karolinska Institutet4 aut
7102 a Karolinska Institutetb Department of Medicine Huddinge, Integrated Cardio Metabolic Center, Karolinska Institutet, Huddinge, Sweden4 org
7730 t Genome Biologyd : Springer Science and Business Media LLCg 20:1q 20:1x 1465-6906x 1474-760X
8564 u https://doi.org/10.1186/s13059-019-1892-zy Fulltext
8564 u https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-019-1892-z
8564 u https://umu.diva-portal.org/smash/get/diva2:1412144/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://liu.diva-portal.org/smash/get/diva2:1466322/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://uu.diva-portal.org/smash/get/diva2:1415971/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-179705
8564 8u https://doi.org/10.1186/s13059-019-1892-z
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-168575
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-169194
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-406907
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:142899767

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