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Genetic predisposition to mosaic Y chromosome loss in blood

Thompson, Deborah J ; Genovese, Giulio ; Halvardson, Jonatan ; Ulirsch, Jacob C ; Wright, Daniel J ; Terao, Chikashi ; Davidsson, Olafur B ; Day, Felix R ; Sulem, Patrick ; Jiang, Yunxuan ; Danielsson, Marcus ; Davies, Hanna ; Dennis, Joe ; Dunlop, Malcolm G ; Easton, Douglas F ; Fisher, Victoria A ; Zink, Florian ; Houlston, Richard S ; Ingelsson, Martin ; Kar, Siddhartha ; Kerrison, Nicola D ; Kinnersley, Ben ; Kristjansson, Ragnar P ; Law, Philip J ; Li, Rong ; Loveday, Chey ; Mattisson, Jonas ; McCarroll, Steven A ; Murakami, Yoshinori ; Murray, Anna ; Olszewski, Pawel ; Rychlicka-Buniowska, Edyta ; Scott, Robert A ; Thorsteinsdottir, Unnur ; Tomlinson, Ian ; Moghadam, Behrooz Torabi ; Turnbull, Clare ; Wareham, Nicholas J ; Gudbjartsson, Daniel F ; Kamatani, Yoichiro ; Hoffmann, Eva R ; Jackson, Steve P ; Stefansson, Kari ; Auton, Adam ; Ong, Ken K ; Machiela, Mitchell J ; Loh, Po-Ru ; Dumanski, Jan P ; Chanock, Stephen J ; Forsberg, Lars A ; Perry, John R B

Nature (London), 2019-11, Vol.575 (7784), p.652-657 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Genetic predisposition to mosaic Y chromosome loss in blood
Autor: Thompson, Deborah J ; Genovese, Giulio ; Halvardson, Jonatan ; Ulirsch, Jacob C ; Wright, Daniel J ; Terao, Chikashi ; Davidsson, Olafur B ; Day, Felix R ; Sulem, Patrick ; Jiang, Yunxuan ; Danielsson, Marcus ; Davies, Hanna ; Dennis, Joe ; Dunlop, Malcolm G ; Easton, Douglas F ; Fisher, Victoria A ; Zink, Florian ; Houlston, Richard S ; Ingelsson, Martin ; Kar, Siddhartha ; Kerrison, Nicola D ; Kinnersley, Ben ; Kristjansson, Ragnar P ; Law, Philip J ; Li, Rong ; Loveday, Chey ; Mattisson, Jonas ; McCarroll, Steven A ; Murakami, Yoshinori ; Murray, Anna ; Olszewski, Pawel ; Rychlicka-Buniowska, Edyta ; Scott, Robert A ; Thorsteinsdottir, Unnur ; Tomlinson, Ian ; Moghadam, Behrooz Torabi ; Turnbull, Clare ; Wareham, Nicholas J ; Gudbjartsson, Daniel F ; Kamatani, Yoichiro ; Hoffmann, Eva R ; Jackson, Steve P ; Stefansson, Kari ; Auton, Adam ; Ong, Ken K ; Machiela, Mitchell J ; Loh, Po-Ru ; Dumanski, Jan P ; Chanock, Stephen J ; Forsberg, Lars A ; Perry, John R B
Assuntos: Adult ; Age ; Age related diseases ; Aged ; Aging ; Analysis ; Biomarkers ; Blood circulation ; Breast cancer ; Cancer ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, Y - genetics ; Colorectal cancer ; Computational Biology ; Computer applications ; Confidence intervals ; Databases, Genetic ; Diagnosis ; Female ; Gene expression ; Gene sequencing ; Genes ; Genetic aspects ; Genetic engineering ; Genetic Markers - genetics ; Genetic Predisposition to Disease - genetics ; Genetic susceptibility ; Genomes ; Genomic Instability - genetics ; Hematology ; Humans ; Hypotheses ; Identification ; Leukocytes ; Leukocytes - pathology ; Male ; Medical Genetics ; Medicinsk genetik ; Men ; Middle Aged ; Mosaicism ; Neoplasms - genetics ; Population ; Ribonucleic acid ; RNA ; Tumors ; United Kingdom ; Y chromosome ; Y chromosomes
É parte de: Nature (London), 2019-11, Vol.575 (7784), p.652-657
Notas: Consortium membership is listed in the supplementary section
denotes equal contribution
Full consortium membership is listed in the supplementary material
Descrição: Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism , 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.
Editor: England: Nature Publishing Group
Idioma: Inglês

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Genetic predisposition to mosaic Y chromosome loss in blood

England: Nature Publishing Group

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