Capacity and expressiveness of genomic tandem duplication

摘要

The majority of the human genome consists of repeated sequences. An important type of repeats common in the human genome are tandem repeats, where identical copies appear next to each other. For example, in the sequence AGTCTGTGC, TGTG is a tandem repeat, namely, generated from AGTCTGC by a tandem duplication of length 2. In this work, we investigate the possibility of generating a large number of sequences from a small initial string (called the seed) by tandem duplications of bounded length. Our results include exact capacity values for certain tandem duplication string systems with alphabet sizes 2; 3; and 4. In addition, motivated by the role of DNA sequences in expressing proteins via RNA and the genetic code, we define the notion of the expressiveness of a tandem duplication system, as the feasibility of expressing arbitrary substrings. We then completely characterize the expressiveness of tandem duplication systems for general alphabet sizes and duplication lengths. Noticing that a system with capacity = 1 is expressive, we prove that for an alphabet size ≥ 4, the capacity is strictly smaller than 1, independent of the seed and the duplication lengths. The proof of this limit on the capacity (note that the genomic alphabet size is 4), is related to an interesting result by Axel Thue from 1906 which states that there exist arbitrary length sequences with no tandem repeats (square-free) for alphabet size ≥ 3. Finally, our results illustrate that duplication lengths play a more significant role than the seed in generating a large number of sequences for these systems.