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Title: Insights into the Fanconi Anemia DNA repair pathway from the structure and interactions of human FANCL
Author: Hodson, C.
ISNI:       0000 0004 5363 2861
Awarding Body: University College London (University of London)
Current Institution: University College London (University of London)
Date of Award: 2014
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The Fanconi Anemia (FA) pathway is critical for repair of DNA damage interstrand crosslinks (ICL). Mutations in the pathway lead to a rare genetic disorder known as FA, where patient’s symptoms include a high predisposition to cancers, anemia and developmental defects. The pathway is complex, consisting currently of 15 proteins (in vertebrates). The key event of the pathway is the monoubiquitination of downstream targets FANCD2 and FANCI, which signals the recruitment of the DNA repair machinery. The E3 ligase activity that carries out the monoubiquitination event resides in the Fanconi Anemia Core Complex (FA CC), which consists of 7 proteins. Patient mutations in any of the FA CC proteins prevent the monoubiquitination of targets, FANCD2 and FANCI. Interestingly, E3 ligase activity is associated with only one of these 7 FA CC proteins, which is FANCL. The studies presented in this thesis unveil the structure of Human FANCL and the molecular details of FANCLs interactions, required for the key monoubiquitination event of the FA pathway. These observations provide an insight into the biochemistry underlying the FA pathway and the role of E3 ligases in selective monoubiquitination.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available