FANCL（FA互补组L）

Q4 Medicine

Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI:10.4267/2042/70722

Sylvie Van Twest, A. Deans

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引用次数: 0

摘要

FANCL是范可尼贫血(Fanconi anemia, FA) DNA修复途径的催化活性组分，通过识别和修复支架间交联(interstand cross links, ICL)和复制过程中发生的DNA损伤来维持基因组的稳定性。FA通路由22个基因组成，其中任何一个基因的双等位基因突变都会导致范可尼贫血，这是一种癌症易感性综合征，其特征是染色体不稳定和对DNA交联剂(如化疗中使用的DNA交联剂，如丝裂霉素C (MMC))过敏(Niraj, Färkkilä等，2019)。FANCL作用于9个蛋白FA“核心复合体”(FANCA、FANCG、FAAP20 (AG20)、FANCC、FANCF、FANCF (CEF)、FANCB、FANCL、FAAP100 (BL100))中，这些蛋白在DNA损伤时形成。与E2偶联酶Ube2t (FANCT)、E3 RING连接酶FANCL单泛素化FANCD2和FANCI (ID2)一起，这标志着下游修复过程，并且在95%的FA患者中存在缺陷(Inc, 2014)。

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FANCL (FA complementation group L)

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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Atlas of Genetics and Cytogenetics in Oncology and Haematology Medicine-Oncology

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