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Genetics, Vol 147, 1977-1982, Copyright © 1997
INVESTIGATIONS |
Alu Evolution in Human Populations: Using the Coalescent to Estimate Effective Population Size
S. T. Sherry, H. C. Harpending, M. A. Batzer and M. Stoneking
Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania 16802, Department of Pathology, Department of Biometry and Genetics, Neuroscience Center of Excellence, Stanley S. Scott Cancer Center, Louisiana State University Medical Center, New Orleans, Louisiana 70112
There are estimated to be ~1000 members of the Ya5 Alu subfamily of retroposons in humans. This subfamily has a distribution restricted to humans, with a few copies in gorillas and chimpanzees. Fifty-seven Ya5 elements were previously cloned from a HeLa-derived randomly sheared total genomic library, sequenced, and screened for polymorphism in a panel of 120 unrelated humans. Forty-four of the 57 cloned Alu repeats were monomorphic in the sample and 13 Alu repeats were dimorphic for insertion presence/absence. The observed distribution of sample frequencies of the 13 dimorphic elements is consistent with the theoretical expectation for elements ascertained in a single diploid cell line. Coalescence theory is used to compute expected total pedigree branch lengths for monomorphic and dimorphic elements, leading to an estimate of human effective population size of ~18,000 during the last one to two million years.
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