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000295920 1001_ $$00000-0002-9155-1494$$aLiu, Aoxing$$b0
000295920 245__ $$aGenetic drivers and cellular selection of female mosaic X chromosome loss.
000295920 260__ $$aLondon [u.a.]$$bNature Publ. Group$$c2024
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000295920 520__ $$aMosaic 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% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias. Genetic analyses identified 56 common variants associated with mLOX, implicating genes with roles in chromosomal missegregation, cancer predisposition and autoimmune diseases. Exome-sequence analyses identified rare missense variants in FBXO10 that confer a twofold increased risk of mLOX. Only a small fraction of associations was shared with mosaic Y chromosome loss, suggesting that distinct biological processes drive formation and clonal expansion of sex chromosome missegregation. Allelic shift analyses identified X chromosome alleles that are preferentially retained in mLOX, demonstrating variation at many loci under cellular selection. A polygenic score including 44 allelic shift loci correctly inferred the retained X chromosomes in 80.7% of mLOX cases in the top decile. Our results support a model in which germline variants predispose female individuals to acquiring mLOX, with the allelic content of the X chromosome possibly shaping the magnitude of clonal expansion.
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000295920 650_7 $$2NLM Chemicals$$aF-Box Proteins
000295920 650_7 $$2NLM Chemicals$$aFBXO10 protein, human
000295920 650_2 $$2MeSH$$aAdult
000295920 650_2 $$2MeSH$$aFemale
000295920 650_2 $$2MeSH$$aHumans
000295920 650_2 $$2MeSH$$aMale
000295920 650_2 $$2MeSH$$aMiddle Aged
000295920 650_2 $$2MeSH$$aAlleles
000295920 650_2 $$2MeSH$$aAneuploidy
000295920 650_2 $$2MeSH$$aAutoimmune Diseases: genetics
000295920 650_2 $$2MeSH$$aBiological Specimen Banks
000295920 650_2 $$2MeSH$$aChromosome Segregation: genetics
000295920 650_2 $$2MeSH$$aChromosomes, Human, X: genetics
000295920 650_2 $$2MeSH$$aChromosomes, Human, Y: genetics
000295920 650_2 $$2MeSH$$aClone Cells: metabolism
000295920 650_2 $$2MeSH$$aClone Cells: pathology
000295920 650_2 $$2MeSH$$aExome: genetics
000295920 650_2 $$2MeSH$$aF-Box Proteins: genetics
000295920 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000295920 650_2 $$2MeSH$$aGerm-Line Mutation
000295920 650_2 $$2MeSH$$aLeukemia: genetics
000295920 650_2 $$2MeSH$$aLeukocytes: metabolism
000295920 650_2 $$2MeSH$$aModels, Genetic
000295920 650_2 $$2MeSH$$aMosaicism
000295920 650_2 $$2MeSH$$aMultifactorial Inheritance: genetics
000295920 650_2 $$2MeSH$$aMutation, Missense: genetics
000295920 7001_ $$00000-0003-3066-5575$$aGenovese, Giulio$$b1
000295920 7001_ $$00000-0002-2747-0219$$aZhao, Yajie$$b2
000295920 7001_ $$00000-0002-1664-1350$$aPirinen, Matti$$b3
000295920 7001_ $$aZekavat, Seyedeh M$$b4
000295920 7001_ $$aKentistou, Katherine A$$b5
000295920 7001_ $$aYang, Zhiyu$$b6
000295920 7001_ $$aYu, Kai$$b7
000295920 7001_ $$aVlasschaert, Caitlyn$$b8
000295920 7001_ $$00000-0002-1933-8613$$aLiu, Xiaoxi$$b9
000295920 7001_ $$aBrown, Derek W$$b10
000295920 7001_ $$aHudjashov, Georgi$$b11
000295920 7001_ $$00000-0002-4239-4672$$aGorman, Bryan R$$b12
000295920 7001_ $$00000-0003-4591-1214$$aDennis, Joe$$b13
000295920 7001_ $$00000-0002-0467-3064$$aZhou, Weiyin$$b14
000295920 7001_ $$00000-0001-5638-3504$$aMomozawa, Yukihide$$b15
000295920 7001_ $$00000-0002-9047-3762$$aPyarajan, Saiju$$b16
000295920 7001_ $$aTuzov, Valdislav$$b17
000295920 7001_ $$00000-0002-6014-0537$$aPajuste, Fanny-Dhelia$$b18
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000295920 7001_ $$aFreedman, Neal D$$b23
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000295920 7001_ $$00000-0001-9671-1533$$aGardner, Eugene J$$b25
000295920 7001_ $$aFinnGen$$b26$$eCollaboration Author
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000295920 7001_ $$00000-0003-0044-443X$$aSankaran, Vijay G$$b30
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000295920 7001_ $$00000-0002-6954-8184$$aMcCarroll, Steven A$$b39
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000295920 7001_ $$00000-0001-6483-3771$$aPerry, John R B$$b43
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