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  • Thompson, Deborah J (author)

Genetic predisposition to mosaic Y chromosome loss in blood

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • 2019-11-20
  • Springer Science and Business Media LLC,2019
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-397756
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-397756URI
  • https://doi.org/10.1038/s41586-019-1765-3DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Lars Forsberg and John Perry contributed equally to this work
  • Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Genovese, Giulio (author)
  • Halvardson, Jonatan,1982-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Lars Forsberg(Swepub:uu)jonha894 (author)
  • Ulirsch, Jacob C (author)
  • Wright, Daniel J (author)
  • Terao, Chikashi (author)
  • Davidsson, Olafur B (author)
  • Day, Felix R (author)
  • Sulem, Patrick (author)
  • Jiang, Yunxuan (author)
  • Danielsson, MarcusUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Lars Forsberg(Swepub:uu)marda231 (author)
  • Davies, HannaUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)handa349 (author)
  • Dennis, Joe (author)
  • Dunlop, Malcolm G (author)
  • Easton, Douglas F (author)
  • Fisher, Victoria A (author)
  • Zink, Florian (author)
  • Houlston, Richard S (author)
  • Ingelsson, MartinUppsala universitet,Geriatrik(Swepub:uu)maing121 (author)
  • Kar, Siddhartha (author)
  • Kerrison, Nicola D (author)
  • Kinnersley, Ben (author)
  • Kristjansson, Ragnar P (author)
  • Law, Philip J (author)
  • Li, Rong (author)
  • Loveday, Chey (author)
  • Mattisson, JonasUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Lars Forsberg(Swepub:uu)jonma819 (author)
  • McCarroll, Steven A (author)
  • Murakami, Yoshinori (author)
  • Murray, Anna (author)
  • Olszewski, Pawel (author)
  • Rychlicka-Buniowska, Edyta (author)
  • Scott, Robert A (author)
  • Thorsteinsdottir, Unnur (author)
  • Tomlinson, Ian (author)
  • Moghadam, Behrooz TorabiUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)behto381 (author)
  • Turnbull, Clare (author)
  • Wareham, Nicholas J (author)
  • Gudbjartsson, Daniel F (author)
  • Kamatani, Yoichiro (author)
  • Hoffmann, Eva R (author)
  • Jackson, Steve P (author)
  • Stefansson, Kari (author)
  • Auton, Adam (author)
  • Ong, Ken K (author)
  • Machiela, Mitchell J (author)
  • Loh, Po-Ru (author)
  • Dumanski, Jan P.Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)janduman (author)
  • Chanock, Stephen J (author)
  • Forsberg, Lars A.,1974-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)larfo354 (author)
  • Perry, John R B,1974- (author)
  • Uppsala universitetScience for Life Laboratory, SciLifeLab (creator_code:org_t)

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  • In:Nature: Springer Science and Business Media LLC575, s. 652-6570028-08361476-4687

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