{"title":"FANCL（FA互补组L）","authors":"Sylvie Van Twest, A. Deans","doi":"10.4267/2042/70722","DOIUrl":null,"url":null,"abstract":"FANCL is the catalytically active component of the Fanconi anemia (FA) DNA repair pathway that maintains genomic stability by recognizing and repairing interstand cross links (ICL), and DNA damage incurred during replication. The FA pathway is comprised of 22 genes, biallelic mutations in any one of these genes causes Fanconi anemia, a cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Niraj, Färkkilä et al., 2019). FANCL acts within the 9 protein FA \"core complex\" (FANCA, FANCG, FAAP20 (AG20), FANCC, FANCE, FANCF (CEF), FANCB, FANCL, FAAP100 (BL100) that forms in response to DNA damage. Together with E2 conjugating enzyme Ube2t (FANCT), the E3 RING ligase FANCL monoubiquitinates FANCD2 and FANCI (ID2), this signals downstream repair processes, and is defective in 95% of all FA patients (Inc, 2014).","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"FANCL (FA complementation group L)\",\"authors\":\"Sylvie Van Twest, A. Deans\",\"doi\":\"10.4267/2042/70722\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"FANCL is the catalytically active component of the Fanconi anemia (FA) DNA repair pathway that maintains genomic stability by recognizing and repairing interstand cross links (ICL), and DNA damage incurred during replication. The FA pathway is comprised of 22 genes, biallelic mutations in any one of these genes causes Fanconi anemia, a cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Niraj, Färkkilä et al., 2019). FANCL acts within the 9 protein FA \\\"core complex\\\" (FANCA, FANCG, FAAP20 (AG20), FANCC, FANCE, FANCF (CEF), FANCB, FANCL, FAAP100 (BL100) that forms in response to DNA damage. Together with E2 conjugating enzyme Ube2t (FANCT), the E3 RING ligase FANCL monoubiquitinates FANCD2 and FANCI (ID2), this signals downstream repair processes, and is defective in 95% of all FA patients (Inc, 2014).\",\"PeriodicalId\":52212,\"journal\":{\"name\":\"Atlas of Genetics and Cytogenetics in Oncology and Haematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Atlas of Genetics and Cytogenetics in Oncology and Haematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4267/2042/70722\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4267/2042/70722","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
FANCL is the catalytically active component of the Fanconi anemia (FA) DNA repair pathway that maintains genomic stability by recognizing and repairing interstand cross links (ICL), and DNA damage incurred during replication. The FA pathway is comprised of 22 genes, biallelic mutations in any one of these genes causes Fanconi anemia, a cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Niraj, Färkkilä et al., 2019). FANCL acts within the 9 protein FA "core complex" (FANCA, FANCG, FAAP20 (AG20), FANCC, FANCE, FANCF (CEF), FANCB, FANCL, FAAP100 (BL100) that forms in response to DNA damage. Together with E2 conjugating enzyme Ube2t (FANCT), the E3 RING ligase FANCL monoubiquitinates FANCD2 and FANCI (ID2), this signals downstream repair processes, and is defective in 95% of all FA patients (Inc, 2014).
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