Yann has found some interesting papers in the last day or so. One paper he stumbled upon researches the heritable variation of Angiotensin Converting Enzyme (ACE) in humans and baboons. It is titled, Parallel effects of genetic variation in ACE activity in baboons and humans.” ACE is a homeostatic regulator protein, and like other physiological phenotypes, it varies a lot in humans. Proteins that vary a lot are important to research because they help explain how we see so much variation in human populations.
The variation in ACE is attributed with an Alu insertion-deletion polymorphism in the ACE gene. Since I don’t know if you have heard of Alu elements, I’ll explain to you what I know of them. Much of the human genome, and as we are now finding out much of primate genomes, have a lot of transposable elements in them. Transposable elements are segments of DNA that jump around, copy, and rearrange themselves. This genetic versatility facilitates lots of diversity, variation, and potential for selective processes.
Alu elements are classified as a type of transposon where copy is made of RNA, not DNA. This is more specifically called a retrotransposon. Short interspersed elements (SINEs) are about ~300 nucleotides in length and are an even more specific type of retrotransposon . The most abundant type of SINE are Alus. More than 1 million Alus are found in the human genome and make up about 10% of the genome. I found a paper announcing the creation of a database specific to Alu elements in the human genome, but the link to the database doesn’t seem to work. Oh well.
If you want to read more about Alus check out this review article but for your sanity’s sake I’ll wrap up the review of Alu elements… Because Alus are more or less mobile they are important because they affect gene structures, protein sequences, splicing motifs and expression patterns.
You’re probably wondering what was concluded from the comparison of the ACE in humans and baboons? From the abstract,
“We identified a similar Alu insertion-deletion polymorphism in the baboon ACE homologue and measured its frequency in a wild population and a captive population of baboons. We also analyzed the contribution of ACE genotype at this indel to variation in serum ACE activity in the captive population. When conditioned on weight, a known factor affecting ACE activity in humans, age and ACE genotype both accounted for variance in ACE activity; in particular, we identified a significant nonadditive interaction between age and genotype…. These results demonstrate an interesting parallel between the genetic architecture underlying ACE variation in humans and baboons, suggesting that further attention should be paid in humans to the relationship between ACE genetic variation and aging.”
Go figure, ACE, a homeostatic regulator protein, has something to do with aging. And the variation, the amount of Alu element restructuring of ACE has a correlation to how long or short humans and baboons live. Interesting.
More fun reading on the subject:
- Alu Insertion Polymorphisms for the Study of Human Genomic Diversity
- Recently Integrated Alu Elements and Human Genomic Diversity