1997/12/01 by Stephen T. Sherry, Henry Harpending, Mark A. Batzer +1 · 2 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #Genetic diversity and population structure #Retroposon #Biology #Alu element #Subfamily #Coalescent theory #Genetics #Population #Ploidy #Population genetics #Sexual dimorphism #Effective population size #Interspersed repeat #Evolutionary biology #Human genome #Genome #Gene #Phylogenetics #Genetic variation #Zoology #Transposable element
paper · pdf · doi:10.1093/genetics/147.4.1977
openalex publication_date 1997/12/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/22
There are estimated to be approximately 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 approximately 18,000 during the last one to two million years.