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Genetics, Vol 119, 943-949, Copyright © 1988
INVESTIGATIONS |
Linkage Disequilibrium in Human Ribosomal Genes: Implications for Multigene Family Evolution
P. Seperack, M. Slatkin and N. Arnheim
Department of Biochemistry and Program in Cellular and Developmental Biology, State University of New York, Stony Brook, New York 11794 Present address: BRI-Basic Research Program, NCI-Frederick Cancer Research Facility, P. O. Box B, Frederick, Maryland 21701.
Members of the rDNA multigene family within a species do not evolve independently, rather, they evolve together in a concerted fashion. Between species, however, each multigene family does evolve independently indicating that mechanisms exist which will amplify and fix new mutations both within populations and within species. In order to evaluate the possible mechanisms by which mutation, amplification and fixation occur we have determined the level of linkage disequilibrium between two polymorphic sites in human ribosomal genes in five racial groups and among individuals within two of these groups. The marked linkage disequilibrium we observe within individuals suggests that sister chromatid exchanges are much more important than homologous or nonhomologous recombination events in the concerted evolution of the rDNA family and further that recent models of molecular drive may not apply to the evolution of the rDNA multigene family.
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