Fanconi anemia protein FANCI functions in ribosome biogenesis.
Blotting, Western
Cell Nucleolus
/ metabolism
DNA Repair
/ physiology
Electrophoresis, Polyacrylamide Gel
Fanconi Anemia
/ physiopathology
Fanconi Anemia Complementation Group Proteins
/ genetics
HEK293 Cells
HeLa Cells
Humans
Mutation
Protein Biosynthesis
RNA Precursors
/ genetics
RNA, Ribosomal
/ genetics
Ribosomes
/ metabolism
Transcription, Genetic
Ubiquitination
FANCI
Fanconi anemia
nucleolus
pre-ribosomal RNA
ribosome
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
12 02 2019
12 02 2019
Historique:
pubmed:
30
1
2019
medline:
25
6
2019
entrez:
30
1
2019
Statut:
ppublish
Résumé
Fanconi anemia (FA) is a disease of DNA repair characterized by bone marrow failure and a reduced ability to remove DNA interstrand cross-links. Here, we provide evidence that the FA protein FANCI also functions in ribosome biogenesis, the process of making ribosomes that initiates in the nucleolus. We show that FANCI localizes to the nucleolus and is functionally and physically tied to the transcription of pre-ribosomal RNA (pre-rRNA) and to large ribosomal subunit (LSU) pre-rRNA processing independent of FANCD2. While FANCI is known to be monoubiquitinated when activated for DNA repair, we find that it is predominantly in the deubiquitinated state in the nucleolus, requiring the nucleoplasmic deubiquitinase (DUB) USP1 and the nucleolar DUB USP36. Our model suggests a possible dual pathophysiology for FA that includes defects in DNA repair and in ribosome biogenesis.
Identifiants
pubmed: 30692263
pii: 1811557116
doi: 10.1073/pnas.1811557116
pmc: PMC6377447
doi:
Substances chimiques
FANCI protein, human
0
Fanconi Anemia Complementation Group Proteins
0
RNA Precursors
0
RNA, Ribosomal
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2561-2570Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM007223
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD007149
Pays : United States
Organisme : NIA NIH HHS
ID : F31 AG058405
Pays : United States
Organisme : NIDDK NIH HHS
ID : F30 DK109582
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007205
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA168635
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK034989
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM115710
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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