Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
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.
Callinan
Pauline A
PA
Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA.
Hedges
Dale J
DJ
Salem
Abdel-Halim
AH
Xing
Jinchuan
J
Walker
Jerilyn A
JA
Garber
Randall K
RK
Watkins
W Scott
WS
Bamshad
Michael J
MJ
Jorde
Lynn B
LB
Batzer
Mark A
MA
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