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. Author manuscript; available in PMC: 2014 Nov 1.
Published in final edited form as: Nat Genet. 2014 Apr 13;46(5):487–491. doi: 10.1038/ng.2955

Figure 1. The APOBEC3A/3B germline deletion polymorphism is associated with an increased burden of presumptive apobec-related signatures.

Figure 1

(A) Signatures 2 and 13 extracted by Non-negative Matrix Factorization11 share sequence-specific mutation characteristics to members of the AID/APOBEC family of cytidine deaminases. Both signatures are characterized by C>T transitions and/or C>G transversions at a TpCpX sequence context. Signature 2 is dominated by C>T transitions. Signature 13 is dominated by C>G transversions. (B) The APOBEC3A/3B hybrid deletion allele. The genes are in tandem on chromosome 22. The polymorphism involves a deletion of the APOBEC3B coding sequence fusing the 3′UTR of APOBEC3B to the 3′UTR of APOBEC3A.