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Page 1
NIPBL and cohesin: new take on a classic tale.
Alonso-Gil D, Losada A. Alonso-Gil D, et al. Trends Cell Biol. 2023 Oct;33(10):860-871. doi: 10.1016/j.tcb.2023.03.006. Epub 2023 Apr 15. Trends Cell Biol. 2023. PMID: 37062615 Free article. Review.
Mechanistic dissection of these processes suggests that both NIPBL and the cohesin STAG subunit bind DNA. NIPBL also regulates conformational switches of the complex. Interactions of NIPBL with chromatin factors, including remodelers, replication proteins, an …
Mechanistic dissection of these processes suggests that both NIPBL and the cohesin STAG subunit bind DNA. NIPBL also regulates …
Roles of NIPBL in maintenance of genome stability.
Gao D, Zhu B, Cao X, Zhang M, Wang X. Gao D, et al. Semin Cell Dev Biol. 2019 Jun;90:181-186. doi: 10.1016/j.semcdb.2018.08.005. Epub 2018 Aug 17. Semin Cell Dev Biol. 2019. PMID: 30096364 Review.
We explore molecular mechanisms by which NIPBL recruits endogenous histone deacetylase (HDAC) to induce histone deacetylation and influence multi-dimensions of genome, through which NIPBL "hop" movement in chromatin regulates gene expression and alters genome foldin …
We explore molecular mechanisms by which NIPBL recruits endogenous histone deacetylase (HDAC) to induce histone deacetylation and inf …
NIPBL::NACC1 Fusion Hepatic Carcinoma.
Hissong E, Al Assaad M, Bal M, Reed KA, Fornelli A, Levine MF, Gundem G, Semaan A, Orr CE, Sakhadeo U, Manohar J, Sigouros M, Wilkes D, Sboner A, Montgomery EA, Graham RP, Medina-Martínez JS, Robine N, Fang JM, Choi EK, Westerhoff M, Delgado-de la Mora J, Caudell P, Yantiss RK, Papaemmanuil E, Elemento O, Sigel C, Jessurun J, Mosquera JM. Hissong E, et al. Am J Surg Pathol. 2024 Feb 1;48(2):183-193. doi: 10.1097/PAS.0000000000002159. Epub 2023 Dec 4. Am J Surg Pathol. 2024. PMID: 38047392 Free PMC article.
We identified 11 hepatic tumors with these features. Immunohistochemical and NACC1 and NIPBL fluorescence in situ hybridization assays were performed on all cases. Four cases had available material for whole-genome sequencing (WGS) analysis. ...In this report, we describe …
We identified 11 hepatic tumors with these features. Immunohistochemical and NACC1 and NIPBL fluorescence in situ hybridization assay …
Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.
Alonso-Gil D, Cuadrado A, Giménez-Llorente D, Rodríguez-Corsino M, Losada A. Alonso-Gil D, et al. Nat Commun. 2023 Mar 10;14(1):1326. doi: 10.1038/s41467-023-36900-7. Nat Commun. 2023. PMID: 36898992 Free PMC article.
We show that NIPBL depletion results in increased cohesin-STAG1 on chromatin that further accumulates at CTCF positions while cohesin-STAG2 diminishes genome-wide. ...In contrast, cohesin-STAG1 binds chromatin and becomes stabilized at CTCF sites even under low NIPBL …
We show that NIPBL depletion results in increased cohesin-STAG1 on chromatin that further accumulates at CTCF positions while cohesin …
Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.
Boulet F, Odelin G, Harrington A, Moore-Morris T. Boulet F, et al. Int J Mol Sci. 2023 Oct 25;24(21):15564. doi: 10.3390/ijms242115564. Int J Mol Sci. 2023. PMID: 37958548 Free PMC article.
Cornelia de Lange Syndrome (CdLS) patients, who frequently carry a mutation in NIPBL, present an increased incidence of outflow tract (OFT)-related congenital heart defects (CHDs). ...Here, we show that adult Nipbl+/- mice present aortic valve thickening, a conditio …
Cornelia de Lange Syndrome (CdLS) patients, who frequently carry a mutation in NIPBL, present an increased incidence of outflow tract …
Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.
Dashti NK, Matcuk G, Agaimy A, Saoud C, Antonescu CR. Dashti NK, et al. Genes Chromosomes Cancer. 2024 Nov;63(11):e70015. doi: 10.1002/gcc.70015. Genes Chromosomes Cancer. 2024. PMID: 39604143 Free PMC article.
Further molecular work-up was performed showing an unexpected NIPBL::BEND2 fusion, which has been previously reported in two cases of phosphaturic mesenchymal tumor (PMT). ...We report an aggressive, overtly malignant acral bone-forming tumor, harboring a NIPBL::BEN …
Further molecular work-up was performed showing an unexpected NIPBL::BEND2 fusion, which has been previously reported in two cases of …
DNA loop extrusion by human cohesin.
Davidson IF, Bauer B, Goetz D, Tang W, Wutz G, Peters JM. Davidson IF, et al. Science. 2019 Dec 13;366(6471):1338-1345. doi: 10.1126/science.aaz3418. Epub 2019 Nov 21. Science. 2019. PMID: 31753851
Loop formation and maintenance depend on cohesin's ATPase activity and on NIPBL-MAU2, but not on topological entrapment of DNA by cohesin. During loop formation, cohesin and NIPBL-MAU2 reside at the base of loops, which indicates that they generate loops by extrusio …
Loop formation and maintenance depend on cohesin's ATPase activity and on NIPBL-MAU2, but not on topological entrapment of DNA by coh …
Transcription factors form a ternary complex with NIPBL/MAU2 to localize cohesin at enhancers.
Fettweis G, Wagh K, Stavreva DA, Jiménez-Panizo A, Kim S, Lion M, Alegre-Martí A, Rinaldi L, Johnson TA, Gilson E, Krishnamurthy M, Wang L, Ball DA, Karpova TS, Upadhyaya A, Vertommen D, Recio JF, Estébanez-Perpiñá E, Dequiedt F, Hager GL. Fettweis G, et al. Nucleic Acids Res. 2025 May 10;53(9):gkaf415. doi: 10.1093/nar/gkaf415. Nucleic Acids Res. 2025. PMID: 40377219 Free PMC article.
Recently, we and others have proposed that direct interactions with transcription factors lead to the localization of the cohesin-loader complex (NIPBL/MAU2) within enhancers. Here, we identify two clusters of LxxLL motifs within the NIPBL sequence that regulate …
Recently, we and others have proposed that direct interactions with transcription factors lead to the localization of the cohesin-loader com …
NIPBL and STAG1 enable loop extrusion by providing differential DNA-cohesin affinity.
van Wee R, Asor R, Li Y, Drechsel D, Popova M, Litos G, Davidson IF, Peters JM, Kukura P. van Wee R, et al. Proc Natl Acad Sci U S A. 2025 Aug 12;122(32):e2514190122. doi: 10.1073/pnas.2514190122. Epub 2025 Aug 5. Proc Natl Acad Sci U S A. 2025. PMID: 40763028 Free PMC article.
In vitro single-molecule experiments indicate that loop extrusion requires the assembly of a heteropentameric complex consisting of the SMC1/SMC3 heterodimer, STAG1, NIPBL, and the kleisin SCC1. The complexity of the complete extrusion machinery, consisting of multiple sub …
In vitro single-molecule experiments indicate that loop extrusion requires the assembly of a heteropentameric complex consisting of the SMC1 …
NIPBL: a new player in myeloid cell differentiation.
Mazzola M, Deflorian G, Pezzotta A, Ferrari L, Fazio G, Bresciani E, Saitta C, Ferrari L, Fumagalli M, Parma M, Marasca F, Bodega B, Riva P, Cotelli F, Biondi A, Marozzi A, Cazzaniga G, Pistocchi A. Mazzola M, et al. Haematologica. 2019 Jul;104(7):1332-1341. doi: 10.3324/haematol.2018.200899. Epub 2019 Jan 10. Haematologica. 2019. PMID: 30630974 Free PMC article.
Notably, NPM1 mutations are always accompanied by additional mutations such as those in cohesin genes RAD21, SMC1A, SMC3, and STAG2 but not in the cohesin regulator, nipped B-like (NIPBL). In this work, we analyzed a cohort of adult patients with acute myeloid leukemia and …
Notably, NPM1 mutations are always accompanied by additional mutations such as those in cohesin genes RAD21, SMC1A, SMC3, and STAG2 but not …
500 results