Genome-wide Detection and Analysis of Recent Segmental Duplications within Mammalian Organisms

  1. J.A. BAILEY and
  2. E.E. EICHLER
  1. Department of Genetics, Center for Computational Genomics, Comprehensive Cancer Center and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106

This extract was created in the absence of an abstract.

Excerpt

Protein encoding DNA sequence represents a paltryfraction of the human genome—an estimated 1.5% of the~3 billion base pairs. In stark contrast, more than half ofthe genome is found to be repetitive, and, if the origin ofall sequences could be discerned, the true fraction ofrepetitive DNA would be much higher. The highly repetitive nature of the genome was initially recognizedthrough DNA reassociation studies ("Cot analysis")(Schmid and Deininger 1975; Deininger and Schmid1976). More recent molecular analyses have confirmedthe multitude of different high-copy or common repeatsthat constitute this repetitive fraction for many organisms. Among vertebrate species, five categories of highcopy-repeat elements may be distinguished (Table 1). Forthe majority of these repeats, studies have yielded descriptions of the consensus sequence, transposition/replication mechanism, and basic phylogeny. These propertieshave been used to classify them. Although a few repeats,such as α-satellite in humans, have been assigned a function, the majority are commonly referred to as "junkDNA" or "selfish DNA" because these repeats are considered to have no benefit to the "host" organism (Ohno1972)...

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