2020
Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly
Cicconi A, Rai R, Xiong X, Broton C, Al-Hiyasat A, Hu C, Dong S, Sun W, Garbarino J, Bindra RS, Schildkraut C, Chen Y, Chang S. Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly. Nature Communications 2020, 11: 5861. PMID: 33203878, PMCID: PMC7672075, DOI: 10.1038/s41467-020-19674-0.Peer-Reviewed Original ResearchAminopeptidasesAnimalsBinding SitesCalorimetryCell Cycle ProteinsCytoskeletal ProteinsDipeptidyl-Peptidases and Tripeptidyl-PeptidasesDNA DamageFibroblastsHeLa CellsHistonesHumansMiceMicrocephalyMutationProtein Interaction Domains and MotifsSerine ProteasesShelterin ComplexTelomereTelomere-Binding ProteinsTelomeric Repeat Binding Protein 2
2011
The E3 ubiquitin ligase Rnf8 stabilizes Tpp1 to promote telomere end protection
Rai R, Li JM, Zheng H, Lok GT, Deng Y, Huen MS, Chen J, Jin J, Chang S. The E3 ubiquitin ligase Rnf8 stabilizes Tpp1 to promote telomere end protection. Nature Structural & Molecular Biology 2011, 18: 1400-1407. PMID: 22101936, PMCID: PMC3657743, DOI: 10.1038/nsmb.2172.Peer-Reviewed Original Research
2005
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1–Chk1 pathway, implicating checkpoint dysfunction in microcephaly
Lin SY, Rai R, Li K, Xu ZX, Elledge SJ. BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1–Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 15105-15109. PMID: 16217032, PMCID: PMC1257745, DOI: 10.1073/pnas.0507722102.Peer-Reviewed Original ResearchConceptsDNA damage responsive proteinBRIT1/MCPH1Human telomerase functionDamage-responsive proteinsChromatin-associated proteinsPhosphorylation of Nbs1Checkpoint kinase Chk1G2/M checkpointSeckel syndrome patientsCell cycle arrestGamma-H2AX fociKinase Chk1Nuclear fociResponsive proteinsTelomerase functionMicrocephaly disordersMCPH1 geneCellular immortalizationBRIT1MCPH1 deficiencyChk1 pathwayAtaxia telangiectasiaM checkpointPrimary microcephalyChk1