title: Identification and characterization of two polymorphic Ya5 Alu repeats.
abstract: Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.
authors.affiliation: Human Genome Center, Lawrence Livermore National Laboratory, Livermore, CA 94551, USA.
authors.forename: S S
authors.initials: SS
authors.lastname: Arcot
authors.forename: M M
authors.initials: MM
authors.lastname: DeAngelis
authors.forename: S T
authors.initials: ST
authors.lastname: Sherry
authors.forename: A W
authors.initials: AW
authors.lastname: Adamson
authors.forename: J E
authors.initials: JE
authors.lastname: Lamerdin
authors.forename: P L
authors.initials: PL
authors.lastname: Deininger
authors.forename: A V
authors.initials: AV
authors.lastname: Carrano
authors.forename: M A
authors.initials: MA
authors.lastname: Batzer
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics; D000882:Haplorhini; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D017422:Sequence Analysis, DNA