{"id":"https://openalex.org/W2984158809","doi":"https://doi.org/10.1182/blood.v128.22.1041.1041","title":"The Role of UAF1 in the Fanconi Anemia Pathway Regulation of Homologous Recombination-Mediated Genome Maintenance","display_name":"The Role of UAF1 in the Fanconi Anemia Pathway Regulation of Homologous Recombination-Mediated Genome Maintenance","publication_year":2016,"publication_date":"2016-12-02","ids":{"openalex":"https://openalex.org/W2984158809","doi":"https://doi.org/10.1182/blood.v128.22.1041.1041","mag":"2984158809"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v128.22.1041.1041","doi":"https://doi.org/10.1182/blood.v128.22.1041.1041","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v128.22.1041.1041","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103858620","display_name":"Fengshan Liang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Fengshan Liang","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103836236","display_name":"Simonne Longerich","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Simonne Longerich","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017795133","display_name":"Caroline Tang","orcid":"https://orcid.org/0000-0001-7966-5854","observed_orcids":["https://orcid.org/0000-0001-7966-5854"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Caroline Tang","raw_affiliation_strings":["Department of Pediatrics, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002025059","display_name":"Olga Buzovestsky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Olga Buzovestsky","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052997826","display_name":"Yong Xiong","orcid":"https://orcid.org/0000-0001-9625-9313","observed_orcids":["https://orcid.org/0000-0001-9625-9313"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Yong Xiong","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064592425","display_name":"David G. Maranon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I92446798","display_name":"Colorado State University","ror":"https://ror.org/03k1gpj17","country_code":"US","type":"education","lineage":["https://openalex.org/I92446798"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"David Maranon","raw_affiliation_strings":["Colorado State University, Fort Collins,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Colorado State University, Fort Collins,","institution_ids":["https://openalex.org/I92446798"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088902115","display_name":"Claudia Wiese","orcid":"https://orcid.org/0000-0001-6844-4693","observed_orcids":["https://orcid.org/0000-0001-6844-4693"]},"institutions":[{"id":"https://openalex.org/I92446798","display_name":"Colorado State University","ror":"https://ror.org/03k1gpj17","country_code":"US","type":"education","lineage":["https://openalex.org/I92446798"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Claudia Wiese","raw_affiliation_strings":["Department of Environmental and Radiological Health Sciences, Colorado State University, Fort Collins,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Environmental and Radiological Health Sciences, Colorado State University, Fort Collins,","institution_ids":["https://openalex.org/I92446798"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Adam Miller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Adam Miller","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090899284","display_name":"Patrick Sung","orcid":"https://orcid.org/0000-0003-1396-9040","observed_orcids":["https://orcid.org/0000-0003-1396-9040"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Patrick Sung","raw_affiliation_strings":["Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biophysics and Biochemistry, Yale University, New Haven,","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079834643","display_name":"Gary M. Kupfer","orcid":"https://orcid.org/0000-0002-3988-2894","observed_orcids":["https://orcid.org/0000-0002-3988-2894"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gary M. Kupfer","raw_affiliation_strings":["Pediatrics and Pathology, Yale University School of Medicine, New Haven, CT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics and Pathology, Yale University School of Medicine, New Haven, CT","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5002025059","https://openalex.org/A5017795133","https://openalex.org/A5052997826","https://openalex.org/A5064592425","https://openalex.org/A5088902115","https://openalex.org/A5090899284","https://openalex.org/A5103836236","https://openalex.org/A5103858620"],"corresponding_institution_ids":["https://openalex.org/I32971472","https://openalex.org/I92446798"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.22979161,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"128","issue":"22","first_page":"1041","last_page":"1041"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11041","display_name":"Ubiquitin and proteasome pathways","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11914","display_name":"PARP inhibition in cancer therapy","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/uaf1","display_name":"UAF1","score":0.9919999837875366},{"id":"https://openalex.org/keywords/fanconi-anemia-pathway","display_name":"Fanconi anemia pathway","score":0.8410000205039978},{"id":"https://openalex.org/keywords/homologous-recombination","display_name":"homologous recombination","score":0.9639999866485596},{"id":"https://openalex.org/keywords/rad51","display_name":"RAD51","score":0.7870000004768372},{"id":"https://openalex.org/keywords/rad51ap1","display_name":"RAD51AP1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/usp1","display_name":"USP1","score":0.7310000061988831},{"id":"https://openalex.org/keywords/interstrand-crosslinks","display_name":"interstrand cross-links","score":0.7239999771118164},{"id":"https://openalex.org/keywords/dna-damage-response","display_name":"DNA damage response","score":0.6179999709129333},{"id":"https://openalex.org/keywords/genomic-stability","display_name":"genome stability","score":0.7149999737739563},{"id":"https://openalex.org/keywords/dna-binding-activity","display_name":"DNA-binding activity","score":0.6499999761581421},{"id":"https://openalex.org/keywords/protein-complex-assembly","display_name":"protein complex formation","score":0.5979999899864197},{"id":"https://openalex.org/keywords/d-loop-formation","display_name":"D-loop formation","score":0.6510000228881836},{"id":"https://openalex.org/keywords/dna-repair","display_name":"DNA repair","score":0.49000000953674316},{"id":"https://openalex.org/keywords/dna-damage-hypersensitivity","display_name":"DNA damage hypersensitivity","score":0.4749999940395355}],"concepts":[{"id":"https://openalex.org/C102744134","wikidata":"https://www.wikidata.org/wiki/Q22280388","display_name":"Homologous recombination","level":3,"score":0.7591009140014648},{"id":"https://openalex.org/C2779012473","wikidata":"https://www.wikidata.org/wiki/Q3235015","display_name":"RAD51","level":4,"score":0.6565421223640442},{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.6564778089523315},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.6531411409378052},{"id":"https://openalex.org/C2776653068","wikidata":"https://www.wikidata.org/wiki/Q17927069","display_name":"FANCD2","level":5,"score":0.600918173789978},{"id":"https://openalex.org/C102414288","wikidata":"https://www.wikidata.org/wiki/Q1172461","display_name":"Recombinase","level":4,"score":0.6002689003944397},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5311179161071777},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.5261618494987488},{"id":"https://openalex.org/C178169997","wikidata":"https://www.wikidata.org/wiki/Q2892636","display_name":"Genome instability","level":4,"score":0.5200190544128418},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.5109085440635681},{"id":"https://openalex.org/C2778993383","wikidata":"https://www.wikidata.org/wiki/Q17927056","display_name":"FANCA","level":5,"score":0.502532958984375},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3759870231151581},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.33045223355293274},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15145343542099},{"id":"https://openalex.org/C156695909","wikidata":"https://www.wikidata.org/wiki/Q3373825","display_name":"Recombination","level":3,"score":0.09813323616981506}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood.v128.22.1041.1041","doi":"https://doi.org/10.1182/blood.v128.22.1041.1041","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v128.22.1041.1041","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.504800021648407}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2989002115","https://openalex.org/W2406675669","https://openalex.org/W2955745836","https://openalex.org/W3022592625","https://openalex.org/W2488348433","https://openalex.org/W2128187220","https://openalex.org/W2112158920","https://openalex.org/W2034417043","https://openalex.org/W2119085876","https://openalex.org/W2980824085"],"abstract_inverted_index":{"Abstract":[0],"Background:":[1],"Fanconi":[2],"anemia":[3],"(FA),":[4],"a":[5,105,193,204,229,238,246,262,428],"cancer-prone":[6],"genetic":[7],"disease,":[8],"is":[9,67,391,402],"caused":[10],"by":[11,42,61,97],"defects":[12],"in":[13,80,162,266,311,338,345,354,407,417],"the":[14,30,48,62,72,109,112,136,158,207,215,250,267,272,283,298,301,312,322,327,341,346,349,355,358,373,388,412],"FA-DNA":[15],"repair":[16,38,41,96,376,385],"pathway.":[17,74],"In":[18,145],"response":[19],"to":[20,117,134,156,181,375,380,446],"DNA":[21,25,34,85,95,137,177,194,209,328,351,377,384,420],"interstrand":[22],"crosslink":[23],"(ICL)-induced":[24],"damage,":[26],"FANCI-FANCD2":[27],"mono-ubiquitination":[28],"licenses":[29],"execution":[31],"of":[32,54,59,111,143,160,198,222,241,270,275,289,300,333,348,357,387,415,433,444],"downstream":[33],"damage":[35,86,378,421],"signaling":[36],"and":[37,51,84,125,140,149,167,186,202,291,316,325,329,353,379,400,419],"steps,":[39],"including":[40],"homologous":[43,98,123,436],"recombination":[44,124],"(HR)":[45],"that":[46,107,214,293,317],"utilizes":[47],"recombinase":[49,164],"RAD51":[50,113,163,330,342],"its":[52],"cohort":[53],"accessory":[55],"factors.":[56],"Timely":[57],"deubiquitination":[58],"FANCD2":[60,82],"UAF1-USP1":[63],"deubiquitinating":[64],"enzyme":[65],"complex":[66,151,231,240,279,303,324,368,390],"also":[68,92,236,326],"critically":[69],"important":[70],"for":[71,94,206,297,366,372,404,411],"FA":[73],"As":[75],"such,":[76],"UAF1":[77,88,100,121,161,176,191,223,227,276,292,307,399,416,434],"depletion":[78],"results":[79,235],"persistent":[81],"ubiquitination":[83],"hypersensitivity.":[87],"deficient":[89],"cells":[90],"are":[91,294,370],"impaired":[93,172,365],"recombination.":[99],"physically":[101],"associates":[102],"with":[103,171,232,243,309,340],"RAD51AP1,":[104],"protein":[106,141,278],"enhances":[108],"activity":[110,139,196],"recombinase.":[114],"It":[115],"remains":[116],"be":[118],"defined":[119,260],"how":[120],"regulates":[122],"genome":[126,438],"stability.":[127],"Methods:":[128],"Highly":[129],"purified":[130],"proteins":[131],"were":[132,154,179,304],"used":[133,155],"define":[135],"binding":[138,178,195,331],"interaction":[142,174,257,397],"UAF1.":[144],"vitroD-loop":[146],"formation":[147,299,369],"reaction":[148,315],"synaptic":[150,359],"assembly":[152,356],"assay":[153],"discover":[157],"function":[159,248,386,414],"enhancement.":[165],"HeLa":[166],"U2OS-DR-GFP":[168],"cell":[169,363],"lines":[170,364],"UAF1-RAD51AP1":[173],"or":[175],"generated":[180],"examine":[182],"DNA-damage":[183],"agent":[184],"sensitivity":[185],"HR":[187,418],"efficiency.":[188],"Results:":[189],"(1)":[190],"possesses":[192],"capable":[197],"engaging":[199],"ssDNA,":[200],"dsDNA":[201],"has":[203],"preference":[205],"D-loop":[208,314],"substrate.":[210],"We":[211],"further":[212],"identified":[213],"N-terminus":[216],"but":[217],"not":[218],"C-terminal":[219],"SLD":[220],"domain":[221,274,284],"binds":[224],"DNA.":[225],"(2)":[226],"forms":[228],"dimeric":[230],"RAD51AP1.":[233,334],"Our":[234,423],"revealed":[237],"trimeric":[239],"RAD51-RAD51AP1-UAF1,":[242],"RAD51AP1":[244,290,310,401],"providing":[245],"tethering":[247],"between":[249,398],"other":[251],"two":[252],"proteins.":[253],"(3)":[254],"The":[255,395],"RAD51AP1-UAF1":[256,302,323,336,367,389],"interface":[258],"was":[259],"showing":[261],"novel":[263,429],"SIM":[264],"motif":[265],"middle":[268],"portion":[269],"RAD51AP1and":[271],"SLD1-SLD2":[273],"mediate":[277],"formation.":[280],"Based":[281],"on":[282,435],"mapping":[285],"results,":[286],"point":[287],"mutants":[288],"specifically":[295],"compromised":[296,371],"generated.":[305],"(4)":[306],"synergizes":[308],"RAD51-mediated":[313],"this":[318],"functional":[319,405],"synergy":[320,406],"requires":[321],"attributes":[332],"(5)":[335],"works":[337],"conjunction":[339],"presynaptic":[343],"filament":[344],"capture":[347],"duplex":[350],"partner":[352],"complex.":[360],"(6)":[361],"Human":[362],"ability":[374],"execute":[381],"HR.":[382],"(7)":[383],"likely":[392],"USP1-independent.":[393],"Conclusions:":[394],"physical":[396],"indispensable":[403],"vitro":[408],"and,":[409],"accordingly,":[410],"biological":[413],"repair.":[422],"findings":[424],"provide":[425],"insights":[426],"into":[427],"USP1-independent":[430],"regulatory":[431],"mechanism":[432],"recombination-mediated":[437],"maintenance.":[439],"Disclosures":[440],"No":[441],"relevant":[442],"conflicts":[443],"interest":[445],"declare.":[447]},"counts_by_year":[],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2019-11-22T00:00:00"}