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PMID: 20064461 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia.

Molecular cell ·Vol. 36 ·No. 6 ·2009-12-25 ·Pages 943-53

Deans AJ, West SC

Abstract

Fanconi Anemia (FA) and Bloom's Syndrome (BS) are genetic disorders characterized by overlapping phenotypes, including aberrant DNA repair and cancer predisposition. Here, we show that the FANCM gene product, FANCM protein, links FA and BS by acting as a protein anchor and bridge that targets key components of the FA and BS pathways to stalled replication forks, thus linking multiple components that are necessary for efficient DNA repair. Two highly conserved protein:protein interaction motifs in FANCM, designated MM1 and MM2, were identified. MM1 interacts with the FA core complex by binding to FANCF, whereas MM2 interacts with RM1 and topoisomerase IIIalpha, components of the BS complex. The MM1 and MM2 motifs were independently required to activate the FA and BS pathways. Moreover, a common phenotype of BS and FA cells-an elevated frequency of sister chromatid exchanges-was due to a loss of interaction of the two complexes through FANCM.

MeSH Terms
Amino Acid Sequence Animals Bloom Syndrome/genetics,metabolism Cell Line DNA Damage DNA Helicases/genetics,metabolism DNA Repair DNA Replication/physiology,radiation effects DNA Topoisomerases, Type I/genetics,metabolism Fanconi Anemia/genetics,metabolism Genomic Instability Humans Multiprotein Complexes/genetics,metabolism Phenotype Protein Structure, Tertiary RNA, Small Interfering/genetics,metabolism RecQ Helicases/genetics,metabolism Sister Chromatid Exchange
Chemicals
Multiprotein Complexes RNA, Small Interfering Bloom syndrome protein FANCM protein, human DNA Helicases RecQ Helicases DNA Topoisomerases, Type I
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Deans Andrew J
London Research Institute, Cancer Research UK, South Mimms, UK.
West Stephen C
Article Info
Journal
Molecular cell
Abbr.
Mol Cell
ISSN
1097-4164
Published
2009-12-25
Pages
943-53
Language
English
Region
United States
NLM ID
9802571
Subset
IM
Grants
Cancer Research UK · United Kingdom
Corrections
CommentIn
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