Genetic drivers and cellular selection of female mosaic X chromosome loss

Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals 1 , 2 , but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% o...

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Veröffentlicht in:	Nature (London) 2024-07, Vol.631 (8019), p.134-141
Hauptverfasser:	Liu, Aoxing, Genovese, Giulio, Zhao, Yajie, Pirinen, Matti, Zekavat, Seyedeh M., Kentistou, Katherine A., Yang, Zhiyu, Yu, Kai, Vlasschaert, Caitlyn, Liu, Xiaoxi, Brown, Derek W., Hudjashov, Georgi, Gorman, Bryan R., Dennis, Joe, Zhou, Weiyin, Momozawa, Yukihide, Pyarajan, Saiju, Tuzov, Valdislav, Pajuste, Fanny-Dhelia, Aavikko, Mervi, Sipilä, Timo P., Ghazal, Awaisa, Huang, Wen-Yi, Freedman, Neal D., Song, Lei, Gardner, Eugene J., Sankaran, Vijay G., Palotie, Aarno, Ollila, Hanna M., Tukiainen, Taru, Chanock, Stephen J., Mägi, Reedik, Natarajan, Pradeep, Daly, Mark J., Bick, Alexander, McCarroll, Steven A., Terao, Chikashi, Loh, Po-Ru, Ganna, Andrea, Perry, John R. B., Machiela, Mitchell J.
Format:	Artikel
Sprache:	eng
Schlagworte:	45/43 631/181/735 631/208/205/2138 631/208/457/649 692/53 Adult Age Alleles Aneuploidy Autoimmune diseases Autoimmune Diseases - genetics Biobanks Biological activity Biological Specimen Banks Body mass index Cancer Cell cycle Chromosome Segregation - genetics Chromosomes Chromosomes, Human, X - genetics Chromosomes, Human, Y - genetics Clone Cells - metabolism Clone Cells - pathology Cloning Disease Exome - genetics F-Box Proteins - genetics Female Females Genetic analysis Genetic Predisposition to Disease - genetics Genomes Germ-Line Mutation Humanities and Social Sciences Humans Leukemia Leukemia - genetics Leukocytes Leukocytes - metabolism Male Medical screening Middle Aged Models, Genetic Mosaicism multidisciplinary Multifactorial Inheritance - genetics Mutation, Missense - genetics Risk analysis Science Science (multidisciplinary) Sex chromosomes X chromosomes Y chromosomes
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