Segmental Duplications in the Human Genome |
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Authors: | Lacroix M.-H. Oparina N. Yu. Mashkova T. D. |
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Affiliation: | (1) Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991, Russia |
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Abstract: | The review considers the structure, evolution, and possible mechanisms of formation and spreading of intrachromosomal and interchromosomal segmental duplications (SD), which account for more than 5% of the human genome. Most SD consist of multiple modules, which occur in several copies in different genome regions. SD are preferentially located in pericentric and subtelomeric regions, which are least studied on the human chromosomes. Homologous recombination between SD results in various chromosome rearrangements, contributing to the genome instability and the origin of several human hereditary disorders. |
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Keywords: | human genome in silico analysis pericentric and subtelomeric regions recombination hereditary disorders chromosome rearrangements |
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