PV92 Alu-insertion polymorphism
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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.
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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.
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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".
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