title: Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes.
abstract: New copies of the mammalian retrotransposon L1 arise in the germline at an undetermined rate. Each new L1 copy appears at a specific evolutionary time point that can be estimated by phylogenetic analysis. In humans, the active L1 sequence L1.2 resides at the genomic locus LRE1. Here we analyzed the region surrounding the LRE1 locus in humans and gorillas to determine the evolutionary history of the region and to estimate the age of L1.2. We found that the region was composed of an ancient L1, L1Hs-Lrg, which was significantly divergent from all other L1 sequences available in the databases. We also determined that L1.2 was absent from the gorilla genome and arose in humans after the divergence of gorilla and human lineages. In the gorilla LRE1 region, we discovered a different full-length L1 element, L1Gg-1, which was allelic and present at a high gene frequency in gorillas but absent from other primates. We determined the nucleotide sequence of L1Gg-1 and found that it was 98% identical to L1.2, suggesting a close relationship between active L1s in gorillas and humans.
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: DeBerardinis
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D019143:Evolution, Molecular; D005787:Gene Frequency; D015894:Genome, Human; D006071:Gorilla gorilla / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D010802:Phylogeny; D018626:Retroelements / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018626:Retroelements