Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot

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Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot James R. Howe, Jason Shellnut, Brian Wagner, John C. Ringold, Mohamed G. Sayed, Abul F. Ahmed, Patrick M. Lynch, Christopher I. Amos, Pertti Sistonen, Lauri A. Aaltonen The American Journal of Human Genetics Volume 70, Issue 5, Pages 1357-1362 (May 2002) DOI: 10.1086/340258 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Possible mechanism of the 4-bp deletion through slipped mispairing. At the replication fork, the second AG direct repeat can mispair with the complement of the first AG repeat, causing a loop on the upper strand that is excised by DNA repair enzymes. The resultant upper-strand copies will have the 4-bp deletion, whereas the lower-strand copies will be the wild-type sequence. The American Journal of Human Genetics 2002 70, 1357-1362DOI: (10.1086/340258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions