Emerging functions of the Fanconi anemia pathway at a glance

Rhea Sumpter, Beth Levine

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Fanconi anemia (FA) is a rare disease, in which homozygous or compound heterozygous inactivating mutations in any of 21 genes lead to genomic instability, early-onset bone marrow failure and increased cancer risk. The FA pathway is essential for DNA damage response (DDR) to DNA interstrand crosslinks. However, proteins of the FA pathway have additional cytoprotective functions that may be independent of DDR. We have shown that many FA proteins participate in the selective autophagy pathway that is required for the destruction of unwanted intracellular constituents. In this Cell Science at a Glance and the accompanying poster, we briefly review the role of the FA pathway in DDR and recent findings that link proteins of the FA pathway to selective autophagy of viruses and mitochondria. Finally, we discuss how perturbations in FA proteinmediated selective autophagy may contribute to inflammatory as well as genotoxic stress.

Original languageEnglish (US)
Pages (from-to)2657-2662
Number of pages6
JournalJournal of Cell Science
Volume130
Issue number16
DOIs
StatePublished - Aug 15 2017

Fingerprint

Fanconi Anemia
DNA Damage
Autophagy
Fanconi Anemia Complementation Group Proteins
Posters
Genomic Instability
Rare Diseases
Mitochondria
Bone Marrow
Viruses
Mutation
DNA
Genes
Neoplasms

Keywords

  • DNA damage response
  • Fanconi anemia
  • Inflammasome
  • Mitophagy
  • Selective autophagy
  • Virophagy

ASJC Scopus subject areas

  • Cell Biology

Cite this

Emerging functions of the Fanconi anemia pathway at a glance. / Sumpter, Rhea; Levine, Beth.

In: Journal of Cell Science, Vol. 130, No. 16, 15.08.2017, p. 2657-2662.

Research output: Contribution to journalArticle

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