An Analysis of the PV92 Insert in the Genome

Introduction

Alu elements are a class of transposable genes found exclusively in the genomic sequences of primates. Averaging in lengths of approximately 300 base pairs, Alu elements are classified as being short interspersed elements, more commonly referred to by the acronym SINEs. These elements interject themselves into the DNA sequence by means of retroposition. Once established into the genome, Alu elements are considered to be stable, only rarely being subjected to deletion. Initial studies on the prevalence of Alu inserts within the modern human genome was calculated to be nearly 5% (Comas, Plaza, Calafell, Sajantila, & Bertranpetit, 2001), however, more recent research indicates that the actual percentage of various Alu elements account for nearly 11% of the DNA sequence (Deininger, 2011). Alu elements are of great importance to scientists, particularly to those who wish to study evolution, as well as, migrational patterns of early human populations.

One remarkable Alu element located at the PV92 locus on chromosome 16 was found to be specific to the Homo sapiens species. The fact that it is found exclusively in the human population provides significant support to the theory that the PV92 element established itself into the genome sometime after the human-primate split in the ancestral tree approximately 5-7 million years ago (Batzer, et al., 1994). The PV92 insert, along with all other elements belonging to the Alu family, do not code for outgoing products, instead they are considered to be a genetically silent insertions. Although different genotypes in individuals can be observed there is no effect on a person’s phenotype.

The PV92 insert is a dimorphic element, meaning that it has two allelic forms, it will either be ...

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Conclusion

The study of Alu elements, such as the one found on the PV92 locus are of extreme importance for numerous reasons. Alu inserts have played a significant role in advancing the study of human evolution. For example, the analysis of specific polymorphic inserts has led some researchers to postulate that the divergence between primates and Homo sapiens was initiated in Africa, giving rise to the “Out of Africa” theory (Batzer, et al. 1994). Contrarily, others believe that the deviation arose from multiple regions from occurring mutations. Additionally, Alu elements are also speculated to have played a significant role in accelerating speciation in vertebrates by acting as a source of new mutations (Bohne, Brunet, Galiana-Arnoux, Schultheis & Volff, 2008), but further research is needed to confirm or refute these hypotheses.