The genomic sequence map of the CMT1A duplication/HNPP deletion region in 17p12. The top solid horizontal line represents the genomic sequence of the CMT1A/HNPP region in the centromere to telomere orientation. Position 0 is assigned to the first base of the proximal CMT1A–REP and vertical markings are placed every 100 kb for reference. The STR polymorphic genetic markers are shown above. Shaded horizontal boxes below depict the large insert clones used to derive genomic sequences. Clones are identified by their individual names and GenBank accession numbers. Proximal and distal CMT1A–REPs are shown as vertical blue boxes, and newly identified low copy repeats (LCRA1, LCRA2, LCRB) are represented as vertical red bars. Arrowheads indicate the orientation/direction of each repeat unit. Underneath are shown known genes (green), predicted genes (purple), and pseudogenes (black), with arrows pointing in the direction of transcription. (MITE and HSMAR2-PMP22) mariner transposon-like elements; (CYPAP) cyclophilin A pseudogene; (60SRPL9P) 60S ribosomal protein L9 pseudogene; (60SRPL23AP) 60S ribosomal protein L23A pseudogene; (40SRPS18P) 40S ribosomal protein S18 pseudogene.
