2026-06-14T01:09:47Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/109802024-11-29T16:45:56Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
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
funder
Unión Europea
funder
Asociación Española Contra el Cáncer
funder
Instituto de Salud Carlos III
funder
Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)
funder
Fundación ProCNIC
2020-09-04T12:08:09Z
2020-09-04T12:08:09Z
2020-08-11
Cell Rep . 2020;32(6):108014.
10.1016/j.celrep.2020.108014
2211-1247
Cell reports
32783938
http://hdl.handle.net/20.500.12105/10980
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
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.
journal article
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
URL
https://repisalud.isciii.es/bitstreams/daaae139-3b44-4533-9eb7-9c218cdcf1b1/download
File
MD5
44e3b7af4c34aaec338fdfc395cb7349
5025547
application/pdf
ArticleEssentialRolesofCohesin STAG2_2020.pdf
URL
https://repisalud.isciii.es/bitstreams/64889ba5-d0c9-4a40-b48a-86f38fd3e47e/download
File
MD5
c2dc6fd1a3710be5a3d12b93226d2ec4
1109632
application/pdf
ArticleEssentialRolesofCohesinSTAG2-mmc1.pdf
URL
https://repisalud.isciii.es/bitstreams/25306e4d-71d0-45ba-81da-60234b47c8f3/download
File
MD5
4019f94890960c102327fa744878588b
135899
application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
ArticleEssentialRolesofCohesinSTAG2_XL.xlsx
URL
https://repisalud.isciii.es/bitstreams/616452b1-bf55-42ba-9482-f987afa919af/download
File
MD5
2f8d404d4e6cc62377aea26c1689e1f9
71468
application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
ArticleEssentialRolesofCohesinSTAG2-mmc3.xlsx
URL
https://repisalud.isciii.es/bitstreams/94914610-c3ce-4776-a002-0393118d9961/download
File
MD5
2ac8d2c494ee44a8791ea51de69c4a57
6130065
application/pdf
ArticleEssentialRolesofCohesinSTAG2-mmc4.pdf
URL
https://repisalud.isciii.es/bitstreams/a00e947e-2265-4601-b573-efeb02640568/download
File
MD5
17c9e18791725a31991cc7425908b9af
82022
text/plain
ArticleEssentialRolesofCohesin STAG2_2020.pdf.txt
URL
https://repisalud.isciii.es/bitstreams/5d8b9872-843c-4bbb-baf4-1879d4f7ace7/download
File
MD5
a4491940d6dead0bbb05c9e53272cf20
3679
text/plain
ArticleEssentialRolesofCohesinSTAG2-mmc1.pdf.txt
URL
https://repisalud.isciii.es/bitstreams/c04789c6-765d-4932-b373-4de91d0260e6/download
File
MD5
8b3fdaad228e884238ceef55098ec45a
85701
text/plain
ArticleEssentialRolesofCohesinSTAG2-mmc4.pdf.txt
URL
https://repisalud.isciii.es/bitstreams/a8fde287-e203-4185-9283-14f7aa418518/download
File
MD5
8b77a3658a81596bb2942fb9ab49ceda
100000
text/plain
ArticleEssentialRolesofCohesinSTAG2_XL.xlsx.txt
URL
https://repisalud.isciii.es/bitstreams/256f3669-8af1-4c49-b947-db91bd3a59f7/download
File
MD5
49b3608a4be15c02ed7fa14bfc4d56d7
53447
text/plain
ArticleEssentialRolesofCohesinSTAG2-mmc3.xlsx.txt