Figure 1.
Fanconi anemia (FA) and Bloom's syndrome (BS) overlap at the clinical and molecular levels.
Left panel: Comparison of the clinical and cellular features present in FA and BS. FA and BS have features that are distinct to each syndrome; however, there are broad similarities. Some individuals with mutations in BLM have been diagnosed with FA, exhibiting classical FA features. Right panel: Depiction of a super-complex that is formed at sites of repair of replication forks that have been impeded by an inter-strand crosslink. The super-complex consists of two complexes that form independently in the nucleus. One complex consists of the interacting proteins identified through FA mutations and the other complex consists of proteins that interact with BLM, the gene mutated in BS [33]. These two complexes are brought together by mutual interactions with the FA gene product FANCM [34]. Molecular interactions between FANCJ and BLM at stalled forks have also been described [35]. Downstream signaling effects (FAND2 ubiquitylation and ATR activation) are also depicted. Figure was redrawn from Deans and West [34].