title: Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.
abstract: Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the larger (termed Sb2) includes approximately 125 to 600 members. Individual members of these Alu subfamilies share distinguishing sets of diagnostic mutations, are well-conserved relative to each other, and have expanded in the human lineage. At least one member from each subfamily is known to be polymorphic in humans. Three newly characterized HS-2 Alu family members as well as three Sb2 Alu repeats are monomorphic (fixed) in humans. The existence of a number of Alu subfamilies that have amplified in parallel within the human genome provides compelling evidence for the simultaneous activity of multiple dispersed Alu source genes.
authors.affiliation: Human  Genome Center L-452, Lawrence Livermore National Laboratory, Livermore, CA 94551, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Batzer
authors.forename: C M
authors.initials: CM
authors.lastname: Rubin
authors.forename: U
authors.initials: U
authors.lastname: Hellmann-Blumberg
authors.forename: M
authors.initials: M
authors.lastname: Alegria-Hartman
authors.forename: E P
authors.initials: EP
authors.lastname: Leeflang
authors.forename: J D
authors.initials: JD
authors.lastname: Stern
authors.forename: H A
authors.initials: HA
authors.lastname: Bazan
authors.forename: T H
authors.initials: TH
authors.lastname: Shaikh
authors.forename: P L
authors.initials: PL
authors.lastname: Deininger
authors.forename: C W
authors.initials: CW
authors.lastname: Schmid
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D016384:Consensus Sequence; D005784:Gene Amplification; D005787:Gene Frequency; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011323:Primates / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D012377:Rodentia; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid