Abstract
Recent human genome projects have revealed that exons encoding proteins count only a few percents, whereas many kinds of repetitive sequences occupy more than 50 % of genome. Some of the latter are related to genetic diseases, but their biological functions and structures are still unknown. Two X-ray structures of a short DNA fragment of d (gcGA [G] 1Agc) show that four base-intercalated duplexes are assembled to form an octaplex at a low K+ concentration, in which the eight G5 residues form a stacked double G-quartet in the central part. At a higher K+ concentration, however, the octaplex is split into just two halves. These structural features suggest a folding process according to a double Greek-key motif for eight tandem repeats of d (ccGA [G] 4Agg) found in Variable number of tandem repeat (VNTR) immediately adjacent to the human pseudoautosomal telomere. Such a packaging of the repeats could facilitate slippage of a certain VNTR sequence during DNA replication, to induce length polymorphism by increasing or decreasing of the repeats.
