Interlocus gene conversion (IGC) from the human processed pseudogene GJA1P1 to its functional paralog, GJA1. The chromosomal locations of GJA1 and GJA1P1 are 6q22.31 and 5q21.3, respectively. The filled black box in GJA1 represents the coding sequence, whereas the empty boxes denote the 5′UTR and 3′UTR. The light-gray shadings connect regions of similarity between the two sequences and serve to highlight the absence of intron 1 in the pseudogene. Regions representing the minimal conversion tract are connected by dark gray shading. The sequence in these regions is identical between the GJA1 disease allele and GJA1P1. A second, independent IGC event between the two paralogous sequences is not shown here.
