Abstract
The centromere is a chromosomal locus responsible for the faithful segregation of genetic material during cell division. It has become evident that centromeres can be established literally on any DNA sequence, and the possible synergy between DNA sequences and the most prominent centromere identifiers, protein components, and epigenetic marks remains uncertain. However, some evolutionary preferences seem to exist, and long-term established centromeres are frequently formed on long arrays of satellite DNAs and/or transposable elements. Recent progress in understanding functional centromere sequences is based largely on the high-resolution DNA mapping of sequences that interact with the centromere-specific histone H3 variant, the most reliable marker of active centromeres. In addition, sequence assembly and mapping of large repetitive centromeric regions, as well as comparative genome analyses offer insight into their complex organization and evolution. The rapidly advancing field of transcription in centromere regions highlights the functional importance of centromeric transcripts. Here, we comprehensively review the current state of knowledge on the composition and functionality of DNA sequences underlying active centromeres and discuss their contribution to the functioning of different centromere types in higher eukaryotes.
Highlights
An essential function of genetic material in any living organism is its faithful segregation, the role which is in eukaryotesM
Being essential for the proper distribution of genetic material in eukaryotic cells, the centromere still continues to intrigue in the complexity of its structure and rapid evolution of its building components
Epigenetic determinants are recognized as major identifiers of centromeres in higher eukaryotes, while the functional contribution of DNA remains obscure and seriously questioned because of the ability of the centromere to be formed and to persist on extremely diverse sequences
Summary
An essential function of genetic material in any living organism is its faithful segregation, the role which is in eukaryotes. Two classes of highly abundant repetitive sequences, satellite DNAs (satDNAs) and transposable elements (TEs), represent major DNA components of many centromeric regions Both groups of sequences are extremely divergent, and understanding the mechanisms of their accumulation, diversification, protein-binding capacity, and linear distribution is essential for a complete picture of centromere genomics, both from a structural and functional perspective. The best known example is the conserved 17 bp long sequence motif, the CENP-B box, which is specific for alpha-satDNA in humans (Ohzeki et al 2002), as well as in various subclasses of alphoid repeats in mammalian species (Alkan et al 2011).
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