2026-08-30T06:21:25Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/111132024-10-31T11:56:58Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
De Koninck, Magali
author
Lapi, Eleonora
author
Badia-Careaga, Claudio
author
Cossio, Itziar
author
Giménez-Llorente, Daniel
author
Rodríguez-Corsino, Miriam
author
Andrada, Elena
author
Hidalgo, Andres
author
Manzanares, Miguel
author
Real, Francisco X
author
Losada, Ana
funder
Ministerio de Ciencia e Innovación (España)
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Asociación Española Contra el Cáncer
funder
Instituto de Salud Carlos III
funder
Fundación ProCNIC
2020-10-08T09:28:00Z
2020-10-08T09:28:00Z
2020-08-11
Cell Rep. 2020; 32(6):108014
10.1016/j.celrep.2020.108014
2211-1247
Cell reports
32783938
http://hdl.handle.net/20.500.12105/11113
Cohesin mediates sister chromatid cohesion and 3D genome folding. Two versions of the complex carrying STAG1 or STAG2 coexist in somatic vertebrate cells. STAG2 is commonly mutated in cancer, and germline mutations have been identified in cohesinopathy patients. To better understand the underlying pathogenic mechanisms, we report the consequences of Stag2 ablation in mice. STAG2 is largely dispensable in adults, and its tissue-wide inactivation does not lead to tumors but reduces fitness and affects both hematopoiesis and intestinal homeostasis. STAG2 is also dispensable for murine embryonic fibroblasts in vitro. In contrast, Stag2-null embryos die by mid-gestation and show global developmental delay and defective heart morphogenesis, most prominently in structures derived from secondary heart field progenitors. Both decreased proliferation and altered transcription of tissue-specific genes contribute to these defects. Our results provide compelling evidence on cell- and tissue-specific roles of different cohesin complexes and how their dysfunction contributes to disease.
eng
Essential Roles of Cohesin STAG2 in Mouse Embryonic Development and Adult Tissue Homeostasis.
journal article
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