title: Genetic variation of recent Alu insertions in human populations.
abstract: The Alu family of interspersed repeats is comprised of over 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insertions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other population groups.
authors.affiliation: Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Batzer
authors.forename: S S
authors.initials: SS
authors.lastname: Arcot
authors.forename: J W
authors.initials: JW
authors.lastname: Phinney
authors.forename: M
authors.initials: M
authors.lastname: Alegria-Hartman
authors.forename: D H
authors.initials: DH
authors.lastname: Kass
authors.forename: S M
authors.initials: SM
authors.lastname: Milligan
authors.forename: C
authors.initials: C
authors.lastname: Kimpton
authors.forename: P
authors.initials: P
authors.lastname: Gill
authors.forename: M
authors.initials: M
authors.lastname: Hochmeister
authors.forename: P A
authors.initials: PA
authors.lastname: Ioannou
authors.forename: R J
authors.initials: RJ
authors.lastname: Herrera
authors.forename: D A
authors.initials: DA
authors.lastname: Boudreau
authors.forename: W D
authors.initials: WD
authors.lastname: Scheer
authors.forename: B J
authors.initials: BJ
authors.lastname: Keats
authors.forename: P L
authors.initials: PL
authors.lastname: Deininger
authors.forename: M
authors.initials: M
authors.lastname: Stoneking
mesh_terms: D001483:Base Sequence; D005075:Biological Evolution; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D044469:Racial Groups; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*