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000290531 1001_ $$00000-0002-4805-2366$$aGrimes, Karen$$b0
000290531 245__ $$aCell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells.
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000290531 500__ $$a#LA:B480# / 2024 Jun;56(6):1134-1146
000290531 520__ $$aThe functional impact and cellular context of mosaic structural variants (mSVs) in normal tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from 19 human donors of increasing age, and discovered the heterogeneous mSV landscapes of hematopoietic stem and progenitor cells. While mSVs are continuously acquired throughout life, expanded subclones in our cohort are confined to individuals >60. Cells already harboring mSVs are more likely to acquire additional somatic structural variants, including megabase-scale segmental aneuploidies. Capitalizing on comprehensive single-cell micrococcal nuclease digestion with sequencing reference data, we conducted high-resolution cell-typing for eight hematopoietic stem and progenitor cells. Clonally expanded mSVs disrupt normal cellular function by dysregulating diverse cellular pathways, and enriching for myeloid progenitors. Our findings underscore the contribution of mSVs to the cellular and molecular phenotypes associated with the aging hematopoietic system, and establish a foundation for deciphering the molecular links between mSVs, aging and disease susceptibility in normal tissues.
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000290531 7001_ $$00000-0002-1526-3343$$aJeong, Hyobin$$b1
000290531 7001_ $$aAmoah, Amanda$$b2
000290531 7001_ $$aXu, Nuo$$b3
000290531 7001_ $$aNiemann, Julian$$b4
000290531 7001_ $$00000-0002-9494-8884$$aRaeder, Benjamin$$b5
000290531 7001_ $$aHasenfeld, Patrick$$b6
000290531 7001_ $$aStober, Catherine$$b7
000290531 7001_ $$0P:(DE-He78)1706204a709919588b5bf4fa0deda4df$$aRausch, Tobias$$b8$$udkfz
000290531 7001_ $$aBenito, Eva$$b9
000290531 7001_ $$00000-0003-2200-0151$$aJann, Johann-Christoph$$b10
000290531 7001_ $$aNowak, Daniel$$b11
000290531 7001_ $$aEmini, Ramiz$$b12
000290531 7001_ $$00000-0002-0986-6340$$aHoenicka, Markus$$b13
000290531 7001_ $$aLiebold, Andreas$$b14
000290531 7001_ $$00000-0002-1656-0833$$aHo, Anthony$$b15
000290531 7001_ $$00000-0002-9527-8018$$aShuai, Shimin$$b16
000290531 7001_ $$00000-0002-5794-5430$$aGeiger, Hartmut$$b17
000290531 7001_ $$00000-0003-3945-0677$$aSanders, Ashley D$$b18
000290531 7001_ $$0P:(DE-He78)372b77c2acf8604690a6a325a4e89287$$aKorbel, Jan$$b19$$eLast author$$udkfz
000290531 773__ $$0PERI:(DE-600)1494946-5$$a10.1038/s41588-024-01754-2$$n6$$p1134-1146$$tNature genetics$$v56$$x1061-4036$$y2024
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