| http://purl.uniprot.org/citations/32845237 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32845237 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32845237 | http://www.w3.org/2000/01/rdf-schema#comment | "Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essential meiotic gene. Functional analysis of the HSF2BP-S167L variant in mouse showed that it behaves as a hypomorphic allele compared to a new loss-of-function (knock-out) mouse model. Hsf2bpS167L/S167L females show reduced fertility with smaller litter sizes. To obtain mechanistic insights, we identified C19ORF57/BRME1 as a strong interactor and stabilizer of HSF2BP and showed that the BRME1/HSF2BP protein complex co-immunoprecipitates with BRCA2, RAD51, RPA and PALB2. Meiocytes bearing the HSF2BP-S167L variant showed a strongly decreased staining of both HSF2BP and BRME1 at the recombination nodules and a reduced number of the foci formed by the recombinases RAD51/DMC1, thus leading to a lower frequency of crossovers. Our results provide insights into the molecular mechanism of HSF2BP-S167L in human ovarian insufficiency and sub(in)fertility."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.org/dc/terms/identifier | "doi:10.7554/elife.56996"xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.org/dc/terms/identifier | "doi:10.7554/elife.56996"xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Pendas A.M."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Pendas A.M."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Veitia R.A."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Veitia R.A."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Caburet S."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Caburet S."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Condezo Y.B."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Condezo Y.B."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Duque P."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Duque P."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Felipe-Medina N."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Felipe-Medina N."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Garcia-Valiente R."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Garcia-Valiente R."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Gomez-H L."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Gomez-H L."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Llano E."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Llano E."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Sanchez-Martin M.A."xsd:string |
| http://purl.uniprot.org/citations/32845237 | http://purl.uniprot.org/core/author | "Sanchez-Martin M.A."xsd:string |