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View from the North 40: It's who we are on the inside that really inspires questions

With the peer review process complete as of last month, the scientific community has officially announced that they have now completely mapped human DNA, and winging it without any review or guidance whatsoever, I am here to tell you to keep the champagne corked because that doesn’t mean as much as it should.

Reuters ran an article Thursday covering a statement from Eric Green, director of the National Human Genome Research Institute about the March announcement of the achievement.

Green said that “generating a truly complete human genome sequence represents an incredible scientific achievement.”

And I guess it’s true enough that this feat is incredible, but he didn’t mention that 92 percent of the mapping was complete in 2003 and it took almost two decades to finish the rest of the work. That’s not a braggy time frame.

Green also cleverly implied that the scientists did all the work. Who makes “scientific achievements”? Scientists, of course, like they spent decades hunched over a lab table with sketchy, sweatshop lighting, pulling apart and labeling the DNA base pairs, genes and proteins.

As if they were like:

“One, two, three, four nucleotides. Hold on. Let me … adenine and thyamine, cytosine and guanine. Yes, all four accounted for and paired appropriately. Let’s call these base pairs Dorothea and Fred after my grandmother who played drums and her favorite husband.”

“OK, that’s 44,532 base pairs. Just 3 billion, 54 million, 945 thousand, and 468 more to go, give or take a couple pairs. We are rocking it today, my friend.”

No. They feed stuff into machines and computers and data comes out.

It would be like me announcing an incredible achievement of producing 10,000 copies of a memo, as if I labored in a pre-Gutenberg press society and wrote each memo, by hand, with a quill pen, and homemade ink.

No, I just sat around all day occasionally having to come alert to feed paper and toner cartridges into a copier.

So what data did the consortium of scientists reveal?

Reuters reported that our DNA is composed of 3.055 billion base pairs and 19,969 genes that encode proteins. The scientists also identified about 2 million additional genetic variants — which spawns the first of many questions I have about the results of the study: They haven’t cataloged everyone’s DNA so how do they know they’re looking at variants? Maybe some of those genes are present in half the population, but the scientists don’t know because they’ve only mapped the genes of a handful of people.

Conversely, can we have more genetic variants than about 2 million? We’re all individuals, just like snowflakes. Yes, we’re all individual snowflakes, and that means you, and you, and you — and you in the corner, too. I see you sitting there with your arms folded over your chest and that “nuh-uhhhh” look on your face.

Don’t get all offended because it even means the identical twins.

A Jan. 7, 2021, LiveScience.com article cited a study that found that “pairs of twins have genomes that differ by an average of 5.2 mutations that occur early in development.” By “early in development” they mean at the point the cell or cells split and from other events that happen in the womb, so there’s another thing the moms will catch the blame for.

Of our almost 20,000 protein-related genes, the article says, about 2,000 they labeled “new” but most were described as “disabled.” As in non-functioning

If that doesn’t make you say, “What!?” then you didn’t do the math. That’s 1% of those genes that appear to be doing nothing.

Are they like the extra parts you have left over after assembling your new IKEA furniture? Or are they left over from some mysterious function we no longer need, like the DNA equivalent of an appendix?

Are they alien implants waiting to be activated when the Mother Ship enters our atmosphere? Are they the key to regaining magic that we once possessed? Or superpowers that we will one day display? Are those 2,000 “disabled” genes the dormant inner self we are seeking that they may unlock our powers to control our destiny?

Are they the answer to all the why’s?

Alas, I have resigned myself to the prospect that I will likely never know the answer to my questions.

I fear that because I am old enough to have helped my teacher print worksheets using a mimeograph machine — and those scientists operate at the speed of the hand crank mimeograph — my DNA will be dust in the wind by the time anyone uses their results to figure out any of the important answers.

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That mimeograph was fully electric, not hand crank. We were totally next-gen at our little school at http://www.facebook.com/viewfromthenorth40 .

 

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