Interspersed Repeat Insertion Polymorphisms for Studies of Human Molecular Anthropology
The recent insertion of mobile elements, of the Alu and L1 families, in the human genome provides a distinct class of polymorphism in the human genome. Because the insertion of these elements in the genome is so rare and once they are inserted they are stable; they represent a unique group of markers that are identical by descent. This type of marker is among the most informative in ascertaining relationships between individuals and populations. The assays for these markers are extremely robust, easy to perform, and readily adaptable to mass analysis and automation. In addition, as the insertion alleles are all newly arisen, the ancestral allele is always the allele missing the insertion. This information allows estimations of the roots of trees, which are not possible with all types of markers. The greatest potential for these markers is with upcoming developments that will allow the identification of new insertions in many different genomes simultaneously. These procedures will allow investigators to isolate markers that are particularly informative for specific populations and allow development of panels of markers tailored for particular populations.
KeywordsRecombination Agarose Electrophoresis Sine Lution
Unable to display preview. Download preview PDF.
- Batzer, MA, SS Arcot, JW Phinney, M Alegria-Hartman, DH Kass, SM Milligan, C Kimpton, P Gill, M Hochmeister, PA Ioannou, RJ Herrera, DA Boudreau, WD Scheer, BJB Keats, PL Deininger, M Stoneking. 1996b. Genetic variation of recent Alu insertions in human populations. J Mol. Evol. 42:22–29.CrossRefGoogle Scholar
- Cavalli-Sforza, LL, P Menozzi, A Piazza. 1994. The History and Geography of Human Genes. Princeton Univ. Press, Princeton, New Jersey.Google Scholar
- Deininger, PL, MA Batzer. 1995. SINE master genes and population biology. In The Impact of Short Interspersed Elements (SINEs) on the Host Genome (ed. RJ Maraia), pp. 43–60. RG Landes, Georgetown, Texas.Google Scholar
- Jorde, LB, KT Bamshad, WS Watkins, R Zenger, AE Fraley, PA Krakowiak, KD Carpenter, H Soodyall, T Jenkins, AR Rogers. 1995. Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am. J Hum. Genet. 57:523–538.Google Scholar
- McComb, J, N Blagitko, AG Comuzzie, MS Schanfield, RI Sukernik, WR Leonard, MH Crawford. 1995. VNTR DNA variation in Siberian indigenous populations. Hum. Biol. 67:217–229.Google Scholar
- Nei, M 1987. Molecular Evolutionary Genetics. Columbia Univ. Press, New York.Google Scholar
- Novick, GE, CC Novick, J Yunis, E Yunis, P Antunez de Mayolo, PL Deininger, M Stoneking, MA Batzer, RJ Herrera. 1998. Polymorphic Alu insertions and the Asian origin of native American populations. Human Biology 70:23–39.Google Scholar
- Perna, NT, MA Batzer, PL Deininger, M Stoneking. 1992. Alu insertion polymorphism: a new type of marker for human population studies. Hum. Biol. 64:641–648.Google Scholar
- Rogers, AR, LB Jorde. 1995. Genetic evidence on modern human origins. Hum. Biol. 67,1–36.Google Scholar
- Soodyall, H, L Vigilant, AV Hill, M Stoneking, T Jenkins. 1996. mtDNA control-region sequence variation suggests multiple independent origins of an “Asian-specific” 9-bp deletion in sub-Saharan Africans. Am. J Hum. Genet. 58:595–608.Google Scholar
- Tishkoff, SA, E Dietzsch, W Speed, AJ Pakstis, JR Kidd, K Cheung, B Bonne-Tamir, AS Santachiara-Benerecetti, P Moral, M Krings, S Paabo, E Watson, N Risch, T Jenkins, KK Kidd. 1996. Global patterns of linkage disequilibrium at the CD4 locus and modem human origins. Science 271:1380–1397.CrossRefGoogle Scholar