PV92 Alu-Polymorphism

PV92 Alu-Polymorphism

The human genome consists to about 50% of transposable DNA elements, so-called "jumping genes". These DNA stretches constitute a major portion of our non-coding or "Junk"-DNA. Some of these elements jump, leaving one location to insert themselves into another. Others are being copied into new locations, resulting in ever growing numbers of insertions across the human genome. Whatever their mechanism, all transposable elements have the potential to affect change through mutations, duplications, or deletions.
One major transposon found in all primates is called Alu. Alu does not jump by itself but gets copied by way of reverse trancriptase encoded by another transposon, L1. Alu has emerged so early in time that it exists in all primates inserted into approximately 1,000,000 different locations across each species' genome. Thus, with the exception of roughly 2,000 human-specific insertions, most human Alu insertions can be found in their homologous positions in the genomes of other primates, too.
PV92 Alu Insertion Polymorphism detects the presence or absence of a "jumping gene" on chromosome 16. This simple genetic system has only three alleles and nine genotypes. Despite this simplicity, allele frequencies vary greatly in different world populations. Alternative explanations about the causes of this variation are consistent with opposing theories of the origins of modern humans "Out of Africa" vs. "Multiregional".