Genetic drivers and cellular selection of female mosaic X chromosome loss.

doi:10.1038/s41586-024-07533-7

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Article

Genetic drivers and cellular selection of female mosaic X chromosome loss.

Nature - 1 Jul 2024

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

Abstract excerpt

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% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an...

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Identifiers

PMID: 38867047
DOI: 10.1038/s41586-024-07533-7
PMCID: PMC13316814

Genes

FBXO10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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