The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

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Figure 2.
Figure 2.

Long-range organization of genes within the 200-kb interval encompassing CTNS. The positions and intron/exon organization of five genes detected in the genomic sequence are schematically depicted, with the 17p telomere (Tel) leftward and the centromere (Cen) rightward. In each case, the introns and exons are drawn to scale, with vertical bars reflecting individual exons and arrows indicating the direction of transcription. The general position of a sixth gene, the vanilloid receptor/SIC gene, is also depicted; intron/exon organization is not shown due to the lack of available human cDNA sequence. The positions of the two sequenced BACs (RG147P12 and RG87B10) and the common 57-kb cystinosis-causing deletion are also shown. Additional structural details about this sequence, including the location of human repetitive elements, are provided in GenBank accession no. AF168787.

This Article

  1. Genome Res. 10: 165-173

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