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The Bloom syndrome helicase BLM interacts with topoisomerase IIIa (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover products during homologous recombination (HR). BLM also promotes DNA-end resection and stalled replication fork restart...
ORGANISM(S): Homo sapiens (Human) 
2021-01-05 | PXD018322 | Pride
Sister chromatid cohesion must be established and then maintained across the extended prophase of gametogenesis. In mitosis this depends on Sororin, but no equivalent factor had been identified for meiotic cohesin. We identify Systirin, the protein encoded by CCDC201, as a conserved, germ cell-restr...
ORGANISM(S): Homo sapiens (Human) 
2026-10-21 | PXD085158 | Pride
Data Access Committee EGAC00001000393
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism/Seckel syndrome. We establish that TRAIP relocali...
BAM files for two WES TRAIP patients
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