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. 2006 Oct 27;28(3):255–264. doi: 10.1002/humu.20430

FIGURE 3.

FIGURE 3

Gene conversion as a possible mechanism for recurrent mutation. A hypothetical mechanism by which the c. [833C; 844_845ins68] chromosomes could serve as template for the generation of the pathogenic c. [833C; –] chromosomes. The upper two strands represent the wild-type c.[833T; –] chromosomes and the two bottom strands represent a variant wild-type c. [833C; 844_845ins68] chromosome. Intron 7 is shown as a black line, exon 8 is a gray line, and the insertion of 68 bp is shown in green. The pathogenic mutation c.833C is shown as a red square. In step A, a double strand break occurs at the DNA polymerase α/β frameshift hotspot followed by 5′→3′ exonuclease activity on the c.[833T; –] chromosome in step B. Subsequent strand invasion occurs in step C and results in the formation of a Holliday junction in step D. In step E, strandrepair leads to the occurrence of a loop that is subsequently cleaved, generating the neutral c. [833C; 844_845ins68] and pathogenic c.[833C; –] chromosomes during gametogenesis (step F).