Recombination Hot Spots and Human Disease

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Figure 1.
Figure 1.

Generation of the CMT1A duplication and HNPP deletion attributable to unequal crossing-over. The proximal and distal CMT1A–REP elements (boxes) flanking the 1.5-Mb region containing the PMP22 gene (vertical line) on two different chromosomes are depicted. Unequal crossing-over because of misalignment at meiosis between the distal and proximal CMT1A–REP elements results in two reciprocal recombination products: the CMT1A duplication (3.0 Mb) chromosome with twoPMP22 genes and the HNPP deletion (1.5 Mb) with noPMP22 gene.

This Article

  1. Genome Res. 7: 773-786

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