An optimized set of human telomere clones for studying telomere integrity and architecture

Telomere-specific clones are a valuable resource for the characterization o f chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a kno wn distance from the end of the chromosome (similar to 300 kb), and 7 clone s corresponding to the most distal markers on the integrated genetic/physic al map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expa nded to a target size of 100-200 kb, which is optimal for use in genome-sca nning methodologies, and additional probes for the remaining seven telomere s have been identified. For each clone we give an associated mapped sequenc e-tagged site and provide distances from the telomere estimated using a com bination of fiberFISH, interphase FISH, sequence analysis, and radiation-hy brid mapping. This updated set of telomeric clones is an invaluable resourc e for clinical diagnosis and represents an important contribution to geneti c and physical mapping efforts aimed at telomeric regions.