title: Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
abstract: A comprehensive analysis of the human sex chromosomes was undertaken to assess Alu-associated human genomic diversity and to identify novel Alu insertion polymorphisms for the study of human evolution. Three hundred forty-five recently integrated Alu elements from eight different Alu subfamilies were identified on the X and Y chromosomes, 225 of which were selected and analyzed by polymerase chain reaction (PCR). From a total of 225 elements analyzed, 16 were found to be polymorphic on the X chromosome and one on the Y chromosome. In line with previous research using other classes of genetic markers, our results indicate reduced Alu-associated insertion polymorphism on the human sex chromosomes, presumably reflective of the reduced recombination rates and lower effective population sizes on the sex chromosomes. The Alu insertion polymorphisms identified in this study should prove useful for the study of human population genetics.
authors: Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA.
authors: Pauline A
authors: PA
authors: Callinan
authors: Dale J
authors: DJ
authors: Hedges
authors: Abdel-Halim
authors: AH
authors: Salem
authors: Jinchuan
authors: J
authors: Xing
authors: Jerilyn A
authors: JA
authors: Walker
authors: Randall K
authors: RK
authors: Garber
authors: W Scott
authors: WS
authors: Watkins
authors: Michael J
authors: MJ
authors: Bamshad
authors: Lynn B
authors: LB
authors: Jorde
authors: Mark A
authors: MA
authors: Batzer
mesh_terms: D020087:Alu Elements / Q000235:genetics*; D000818:Animals; D002460:Cell Line; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019143:Evolution, Molecular; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006367:HeLa Cells; D006801:Humans; D013997:Time Factors