| http://purl.uniprot.org/citations/22036606 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22036606 | http://www.w3.org/2000/01/rdf-schema#comment | "Fanconi anemia (FA) is a heritable disease characterized by bone marrow failure, congenital abnormalities, and cancer predisposition. The 15 identified FA genes operate in a molecular pathway to preserve genomic integrity. Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair. The FA core complex is formed by at least 12 proteins. However, only the FANCL subunit displays ubiquitin ligase activity. FANCA and FANCG are members of the FA core complex for which no other functions have been described than to participate in protein interactions. In this study we generated mice with combined null alleles for Fanca and Fancg to identify extended functions for these genes by characterizing the double mutant mice and cells. Double mutant a(-/-)/g(-/-) mice were born at near Mendelian frequencies without apparent developmental abnormalities. Histological analysis of a(-/-)/g(-/-) mice revealed a Leydig cell hyperplasia and frequent vacuolization of Sertoli cells in testes, while ovaries were depleted from developing follicles and displayed an interstitial cell hyperplasia. These gonadal aberrations were associated with a compromised fertility of a(-/-)/g(-/-) males and females. During the first year of life a(-/-)/g(-/-) did not develop malignancies or bone marrow failure. At the cellular level a(-/-)/g(-/-), Fanca(-/-), and Fancg(-/-) cells proved equally compromised in DNA crosslink and homology-directed repair. Overall the phenotype of a(-/-)/g(-/-) double knockout mice and cells appeared highly similar to the phenotype of Fanca or Fancg single knockouts. The lack of an augmented phenotype suggest that null mutations in Fanca or Fancg are fully epistatic, making additional important functions outside of the FA core complex highly unlikely."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.dnarep.2011.09.015"xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Arwert F."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Hoatlin M.E."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Joenje H."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Oostra A.B."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Rooimans M.A."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "de Vries Y."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Cheng N.C."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "van de Vrugt H.J."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Berns M.A."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Koomen M."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "van der Valk M.A."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Te Riele H."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/author | "Bakker S."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/name | "DNA Repair (Amst)"xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/pages | "1252-1261"xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/title | "Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg."xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/22036606 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22036606 |
| http://purl.uniprot.org/citations/22036606 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22036606 |
| http://purl.uniprot.org/uniprot/#_A0A1D5RLC1-mappedCitation-22036606 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22036606 |
| http://purl.uniprot.org/uniprot/#_D5MR01-mappedCitation-22036606 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22036606 |