A Simpler Explanation to BAK1 Gene Variation in Aortic and Blood Tissues

TL;DR

This paper explains the differential expression of BAK1 gene and pseudogene in aortic and blood tissues, attributing it to the presence of two edited copies in the human genome, one of which is likely a pseudogene.

Contribution

It provides a simplified explanation for BAK1 gene variation by identifying pseudogene expression in aortic tissue and the functional gene in blood, based on genomic analysis.

Findings

BAK1 pseudogene is expressed in aortic tissue.

The actual BAK1 gene is expressed in blood samples.

Two edited copies of BAK1 exist in the human genome, one likely non-functional.

Abstract

The explanation is that in aortic tissue (both diseased and nondiseased) a BAK1 pseudogene is expressed; while in the matching blood samples the actual BAK1 gene is expressed. This explanation was reached after we realized that BAK1 has two edited copies in human genome. These copies are probably BAK1 pseudogenes. One copy belongs to chromosome 11 (NG_005599.3) and the other to chromosome 20 (NC_000850.5). The first copy has frameshifts which means that probably it does not express any functional protein; by other hand, the chromosome 20 copy has no frameshifts and what is more important contains all the reported polymorphisms.