BAK1 Gene Variation: the doubts remain

TL;DR

This paper discusses ongoing debates about BAK1 gene variations, questioning previous conclusions about their origin and highlighting unresolved doubts in the genetic analysis.

Contribution

It critically examines prior claims regarding BAK1 gene variants, emphasizing unresolved issues and the need for further clarification in genetic sequencing interpretations.

Findings

Discrepancies in BAK1 sequence data remain unresolved.

Previous explanations for gene variation are insufficient.

Further research is needed to clarify BAK1 gene origins.

Abstract

Dr. Hatchwell [2010] has proposed that the BAK1 gene variants were likely due to sequencing of a processed gene on chromosome 20. However, in response, Dr. Gottlieb and co-authors [2010] have argued that "some but not all of the sequence changes present in the BAK1 sequence of our abdominal aorta samples are also present in the chromosome 20 BAK1 sequence. However, all the AAA and AA cDNA samples are identical to each other and different from chromosome 20 BAK1 sequence at amino acids 2 and 145". I have been following this discussion because I have independently reached almost the same conclusion as Dr. Hatchwell did [Yamagishi, 2009], and, unfortunately, the response from Dr. Gottlieb and his co-authors seems to me to be unsatisfactory for the reasons listed below