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Fig. 3 | Molecular Medicine

Fig. 3

From: Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms

Fig. 3

HNPP deletion interrupts the COX10 gene. The unequal crossing-over between distal CMT1A-REP and proximal CMT1A-REP is shown at the top of the figure. The COX10 gene (bold) spans distal CMT1A-REP with one coding exon (exon VI) embedded within distal CMT1A-REP. The PMP22 gene (stippled box) is located between the flanking CMTlA-REPs. The direction of transcription for COX 10 is depicted by the horizontal arrow. The 5′ end of COX10 is located outside the genomic region duplicated in CMT1A and deleted in HNPP while the 3′ end is within this genomic region. Note the unequal crossover results in recombination products consisting of the CMT1A duplication, with the recombinant CMT1A-REP missing the 5- end of COX10 but having one normal copy present, and the HNPP deletion with the recombinant CMT1A-REP missing the 3′ end of COX10.

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