2026-06-14T01:09:47Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/109802024-11-29T16:45:56Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Lapi, Eleonora author Badia-Careaga, Claudio author Cossío, Itziar author Giménez-Llorente, Daniel author Rodríguez-Corsino, Miriam author Andrada, Elena author Hidalgo, Andres author Manzanares, Miguel author Real Arribas, Francisco author Losada, Ana author De Koninck, Magali author 2020-08-11 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. Cell Rep . 2020;32(6):108014. 10.1016/j.celrep.2020.108014 2211-1247 Cell reports 32783938 http://hdl.handle.net/20.500.12105/10980 GENE-EXPRESSION BLADDER-CANCER MUTATIONS MICE P16(INK4A) DEFICIENCY DELETION TRACT LEADS Essential Roles of Cohesin STAG2 in Mouse Embryonic Development and Adult Tissue Homeostasis.