| http://purl.uniprot.org/citations/32433956 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32433956 | http://www.w3.org/2000/01/rdf-schema#comment | "The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS). Here we report a MAU2 variant causing CdLS, a deletion of seven amino acids that impairs the interaction between MAU2 and the NIPBL N terminus. Investigating this interaction, we discovered that MAU2 and the NIPBL N terminus are largely dispensable for normal cohesin and NIPBL function in cells with a NIPBL early truncating mutation. Despite a predicted fatal outcome of an out-of-frame single nucleotide duplication in NIPBL, engineered in two different cell lines, alternative translation initiation yields a form of NIPBL missing N-terminal residues. This form cannot interact with MAU2, but binds DNA and mediates cohesin loading. Altogether, our work reveals that cohesin loading can occur independently of functional NIPBL/MAU2 complexes and highlights a novel mechanism protective against out-of-frame mutations that is potentially relevant for other genetic conditions."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.celrep.2020.107647"xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Ramos F."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Graf E."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Berutti R."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Schwarzmayr T."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Dupe V."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Wendt K.S."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Mulugeta E."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Kaiser F.J."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Watrin E."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Parenti I."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Pie J."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Puisac B."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Brouwer R.W.W."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Eckhold J."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Casa V."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "van IJcken W.F.J."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "van Staveren T."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Diab F."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Gil S.R."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/author | "Gines M.M."xsd:string |
| http://purl.uniprot.org/citations/32433956 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |