MOTIVATION Segmental duplications are common in mammalian genomes, but their evolutionary origins remain mysterious. A major difficulty in analyzing segmental duplications is that many duplications are complex mosaics of fragments of numerous other segmental duplications. RESULTS We introduce a novel measure called duplication distance that describes the minimum number of duplications necessa...

A new approach to estimate the Shannon entropy of a long-range correlated sequence is proposed. The entropy is written as the sum of two terms corresponding respectively to power-law (ordered) and exponentially (disordered) distributed blocks (clusters). The approach is illustrated on the 24 human chromosome sequences by taking the nucleotide composition as the relevant information to be encode...

....................................................................................................... 89 Introduction ....................................................................................................... 90 Results ........................................................................................................ 92 Discussion ..............................................

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in 410% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic var...

Segmental duplications, or low-copy repeats, are common in mammalian genomes. In the human genome, most segmental duplications are mosaics consisting of pieces of multiple other segmental duplications. This complex genomic organization complicates analysis of the evolutionary history of these sequences. Earlier, we introduced a genomic distance, called duplication distance, that computes the mo...

Limited comparative studies suggest that the human genome is particularly enriched for recent segmental duplications. The extent of segmental duplications in other mammalian genomes is unknown and confounded by methodological differences in genome assembly. Here, we present a detailed analysis of recent duplication content within the mouse genome using a whole-genome assembly comparison method ...

The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements during the evolution of these two species (evolutionary genome rearrangements). Recent segmental duplications (or duplicons) are paralogous DNA sequences with high sequence identity that account for...

Recently, an enrichment of identical matching sequences has been found in many eukaryotic genomes. Their length distribution exhibits a power law tail raising the question of what evolutionary mechanism or functional constraints would be able to shape this distribution. Here we introduce a simple and evolutionarily neutral model, which involves only point mutations and segmental duplications, a...

In addition to specific changes in cis- and trans-regulatory elements, structural changes in the genome are hypothesized to underlie a large number of differences in gene expression between species. Accordingly, we show that species-specific segmental duplications are enriched with genes that are differentially expressed between humans and chimpanzees.

Alu repeats are the most abundant family of repeats in the human genome, with over 1 million copies comprising 10% of the genome. They have been implicated in human genetic disease and in the enrichment of gene-rich segmental duplications in the human genome, and they form a rich fossil record of primate and human history. Alu repeat elements are believed to have arisen from the replication of ...