[Segment duplications in the human genome].
The review considers the structure, evolution, and possible mechanisms of spreading of intrachromosomal and interchromosomal segment duplications (SD), which account for more than 5% of the human genome. Most SD are mosaic and 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.
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
M E
ME
Lakrua
N Iu
NIu
Oparina
T D
TD
Mashkova
D002877:Chromosomes, Human; D019143:Evolution, Molecular; D020440:Gene Duplication; D030342:Genetic Diseases, Inborn / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D016615:Telomere / Q000235:genetics