TY - JOUR
AU - Liu, Aoxing
AU - Genovese, Giulio
AU - Zhao, Yajie
AU - Pirinen, Matti
AU - Zekavat, Seyedeh M
AU - Kentistou, Katherine A
AU - Yang, Zhiyu
AU - Yu, Kai
AU - Vlasschaert, Caitlyn
AU - Liu, Xiaoxi
AU - Brown, Derek W
AU - Hudjashov, Georgi
AU - Gorman, Bryan R
AU - Dennis, Joe
AU - Zhou, Weiyin
AU - Momozawa, Yukihide
AU - Pyarajan, Saiju
AU - Tuzov, Valdislav
AU - Pajuste, Fanny-Dhelia
AU - Aavikko, Mervi
AU - Sipilä, Timo P
AU - Ghazal, Awaisa
AU - Huang, Wen-Yi
AU - Freedman, Neal D
AU - Song, Lei
AU - Gardner, Eugene J
AU - Sankaran, Vijay G
AU - Palotie, Aarno
AU - Ollila, Hanna M
AU - Tukiainen, Taru
AU - Chanock, Stephen J
AU - Mägi, Reedik
AU - Natarajan, Pradeep
AU - Daly, Mark J
AU - Bick, Alexander
AU - McCarroll, Steven A
AU - Terao, Chikashi
AU - Loh, Po-Ru
AU - Ganna, Andrea
AU - Perry, John R B
AU - Machiela, Mitchell J
TI - Genetic drivers and cellular selection of female mosaic X chromosome loss.
JO - Nature
VL - 631
IS - 8019
SN - 0028-0836
CY - London [u.a.]
PB - Nature Publ. Group
M1 - DKFZ-2024-02733
SP - 134 - 141
PY - 2024
AB - Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, 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
KW - Adult
KW - Female
KW - Humans
KW - Male
KW - Middle Aged
KW - Alleles
KW - Aneuploidy
KW - Autoimmune Diseases: genetics
KW - Biological Specimen Banks
KW - Chromosome Segregation: genetics
KW - Chromosomes, Human, X: genetics
KW - Chromosomes, Human, Y: genetics
KW - Clone Cells: metabolism
KW - Clone Cells: pathology
KW - Exome: genetics
KW - F-Box Proteins: genetics
KW - Genetic Predisposition to Disease: genetics
KW - Germ-Line Mutation
KW - Leukemia: genetics
KW - Leukocytes: metabolism
KW - Models, Genetic
KW - Mosaicism
KW - Multifactorial Inheritance: genetics
KW - Mutation, Missense: genetics
KW - F-Box Proteins (NLM Chemicals)
KW - FBXO10 protein, human (NLM Chemicals)
LB - PUB:(DE-HGF)16
C6 - pmid:38867047
DO - DOI:10.1038/s41586-024-07533-7
UR - https://inrepo02.dkfz.de/record/295920
ER -