High-resolution cartography of recently integrated human chromosome 19-specific Alu fossils

Santosh S. Arcot, Lawrence Livermore National Laboratory
Aaron W. Adamson, Lawrence Livermore National Laboratory
Gregory W. Risch, LSUHSC Neuroscience Center
Jake Lafleur, LSUHSC Neuroscience Center
Myles B. Robichaux, LSUHSC Neuroscience Center
Jane E. Lamerdin, Lawrence Livermore National Laboratory
Anthony V. Carrano, Lawrence Livermore National Laboratory
Mark A. Batzer, Lawrence Livermore National Laboratory


The recently inserted subfamilies of Alu retroposons (Ya5/8 and Yb8) are composed of approximately 2000 elements. We have screened a human chromosome 19-specific cosmid library for the presence of Ya5/8 and Yb8 Alu family members. This analysis resulted in the identification of 12 Ya5/8 Alu family members and 15 Yb8 Alu family members from human chromosome 19. The total number of Ya5/8 and Yb8 Alu family members located on human chromosome 19 does not differ from that expected based upon random integration of Alu repeats within the human genome. The distribution of both subfamilies of Alu elements along human chromosome 19 also appears to be random. DNA sequence analysis of the individual Alu elements revealed a low level of random mutations within both subfamilies of Alu elements consistent with their recent evolutionary origin. Oligonucleotide primers complementary to the flanking unique sequences adjacent to each Alu element were used in polymerase chain reaction assays to determine the phylogenetic distribution and human genomic variation associated with each Alu family member. All of the chromosome 19-specific Ya5/8 and Yb8 Alu family members were restricted to the human genome and absent from orthologous positions within the genomes of several non-human primates. Three of the Yb8 Alu family members were polymorphic for insertion presence/absence within the genomes of a diverse array of human populations. The polymorphic Alu elements will be useful tools for the study of human population genetics.