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. Author manuscript; available in PMC: 2012 May 1.
Published in final edited form as: Hum Mutat. 2010 May;31(5):552–560. doi: 10.1002/humu.21223

Figure 2.

Figure 2

Scheme showing PMS2– PMS2CL sequence exchange due to intrachromosomal recombination with crossover. The normal localization of the functional PMS2 gene and the PMS2CL pseudogene on chromosomal band 7p22 is shown in the top panel. The gray bar indicates the 100-kb repeat element duplicated in inverse orientation 700-kb centromeric. The dotted line indicates the start of the repeats and the arrow their orientation. The green bar corresponds to the PMS2 gene and the red bar to the PMS2CL pseudogene. The C-terminal part of the PMS2 gene is situated in the telomeric repeat. The PMS2CL pseudogene is located in the inverse orientation in the centromeric repeat. Recombination with crossing over would lead to the formation of the PMS2 hybrid allele, the reciprocal PMS2CL pseudogene hybrid allele, and inversion of the intervening sequence (middle panel). A second crossover occurring in the more central part of the duplicons either subsequently to or simultaneously with the first event would lead to the normal orientation of the duplicon with the hybrid alleles (bottom panel).