Beta-Globin Pseudogene Is Functional After All

One of the key arguments of human evolution has now suffered the same fate as many other debunked icons of the errant paradigm of "junk DNA." In this case, it is new research related to the beta-globin pseudogene—which now shows it to be functional and important to hemoglobin gene regulation.

Hemoglobin is a protein in human red blood cells that transports oxygen throughout the body's circulatory system. The human hemoglobin protein is actually a cluster of two chains of different sub proteins. One of these chains is called the "alpha-globin" which remains the same from embryo development to adulthood. The second set is called the "beta-hemoglobin" chain which specifically changes at the embryo-to-fetal transition and again at the fetal-to-adult transition. This amazing bio-engineering allows the developing embryo-baby to receive oxygen at the correct levels throughout its critical growth processes.

The human beta-globin proteins are encoded in a cluster of six genes that extends over 80,000 bases on chromosome 11. The embryo-to-adult growth stage expression of each gene in the cluster depends on that specific gene's interaction with a control region preceding the whole cluster called the "locus control region" or LCR.

While five out of the six genes in the beta-globin cluster encode functional proteins, one of the genes called HBBP1 does not, because of several stop sequences in its code that were once thought to be mutations. This gene was classified as a pseudogene (a broken defunct remnant) because of its assumed non-functionality. Because the gene, along with its presumed errors, is also found in chimpanzees, evolutionists claimed it as proof that humans inherited their version of the gene from a common ancestor with chimps...

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sfs said:

You seem to be looking at a different genome than geneticists are. The more we look at the genome, the more it looks like a crazy-quilt of patches layered on top of gibberish on top of function.

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Junk DNA — Not So Useless After All

Junk. Barren. Non-functioning. Dark matter. That’s how scientists had described the 98% of human genome that lies between our 21,000 genes, ever since our DNA was first sequenced about a decade ago. The disappointment in those descriptors was intentional and palpable.

It had been believed that the human genome — the underpinnings of the blueprint for the talking, empire-building, socially evolved species that we are — would be stuffed with sophisticated genes, coding for critical proteins of unparalleled complexity. But when all was said and done, and the Human Genome Project finally determined the entire sequence of our DNA in 2001, researchers found that the 3 billion base pairs that comprised our mere 21,000 genes made up a paltry 2% of the entire genome. The rest, geneticists acknowledged with unconcealed embarrassment, was an apparent biological wasteland.

But it turns out they were wrong. In an impressive series of more than 30 papers published in several journals, including Nature, Genome Research, Genome Biology, Science and Cell, scientists now report that these vast stretches of seeming “junk” DNA are actually the seat of crucial gene-controlling activity — changes that contribute to hundreds of common diseases. The new data come from the Encyclopedia of DNA Elements project, or ENCODE, a $123 million endeavor begun by the National Human Genome Research Institute (NHGRI) in 2003, which includes 442 scientists in 32 labs around the world.

ENCODE has revealed that some 80% of the human genome is biochemically active. “What is remarkable is how much of [the genome] is doing at least something. It has changed my perception of the genome,” says Ewan Birney, ENCODE’s lead analysis coordinator from the European Bioinformatics Institute.

Rather than being inert, the portions of DNA that do not code for genes contain about 4 million so-called gene switches, transcription factors that control when our genes turn on and off and how much protein they make, not only affecting all the cells and organs in our body, but doing so at different points in our lifetime. Somewhere amidst that 80% of DNA, for example, lie the instructions that coax an uncommitted cell in a growing embryo to form a brain neuron, or direct a cell in the pancreas to churn out insulin after a meal, or guide a skin cell to bud off and replace a predecessor that has sloughed off.

“What we learned from ENCODE is how complicated the human genome is, and the incredible choreography that is going on with the immense number of switches that are choreographing how genes are used,” Eric Green, director of NHGRI, told reporters during a teleconference discussing the findings. “We are starting to answer fundamental questions like what are the working parts of the human genome, the parts list of the human genome and what those parts do.”...

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metherion said:

Forgive me, but I still don't see exactly how this falsifies any evolutionary arguments.

Okay, instead of a set of conserved mutations in a nonfunctional psuedogene in three species (Assuming I'm reading the transcript correctly, without seeing the referenced slides I could be mistaken, but the transcript references chimpanzees, gorillas, and humans), we have a conserved gene that has the same form and function and is built the exact same way across three different species since they diverged. The quote that makes me think 3 species is here:



I got that from the transcript link in the OP.

I don't see how going "Ah ha, that code isn't junk!" negates the "shared without change across two or three related species that diverged millions of years ago but is still identical, which is what we'd expect to see according to evolution" part. Okay, so the code was classified wrong because we didn't know what it did, but that doesn't change the code sequence, nor does it mean that the chimpanzee no longer shares that code sequence built in the exact same way.

Something just seems off about the premise of the article. Wouldn't it be more the prediction of geneticists that that particular psuedogene was non-functional, and then more work in geneticists which fixed that assumption, with the evolution part just standing off to the side going "Yep, those codes are conserved across these species, regardless of what they mean."?

Metherion

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