Although variants are scattered throughout the genome, scientists have largely ignored the stretches of repetitive genetic code once dismissively known as “junk” DNA in their search for differences that influence human health and disease.
A new study shows that variation in these overlooked repetitive regions may also affect human health. These regions can affect the stability of the genome and the proper function of the chromosomes that package genetic material, leading to an increased risk of cancer, birth defects and infertility. The results appear online in the journal Genome Research.
“What we found in this study is probably the tip of the iceberg,” Sullivan said. “There could be all sorts of functional consequences to having variation within the complex, repetitive portion of the genome that we don’t know about yet.”Although genetic variants are scattered throughout the human genome, scientists have largely ignored the stretches of repetitive genetic code known as ‘junk’ DNA in their search for differences that influence human health and disease. Now, researchers have discovered that variation in these overlooked regions can affect the stability of the genome and the proper function of the chromosomes that package our genetic material, leading to an increased risk of birth defects, infertility, and cancer. More. Paper. (paywall) – Megan E Aldrup-MacDonald, Molly E Kuo, Lori L Sullivan, Kimberline Chew, Beth A Sullivan. Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles. Genome Research, 2016; gr.206706.116 DOI: 10.1101/gr.206706.116
Keep on the trail, folks. All signs suggest you are on to something.
See also: New York Times science writer defends the myth of junk DNA
Is “dark genome” becoming the new name for junk DNA?
Old concepts die hard, especially when they are value-laden as “junk DNA” has been—it has been a key argument for Darwinism. So even though “dark genome” makes more sense given all the functions now being identified, expect “junk DNA” to be defended in practice.
For an odd example of that, see “Nothing makes sense in evolution except in the light of junk DNA?”: “If ENCODE [a project that identifies functions] is right, then Evolution is wrong.”
And more recently, Furore over no junk DNA?
For background, see Jonathan Wells on the junk DNA myth
Pod: Richard Sternberg on “junk DNA”
More later. Meanwhile, why did Darwin’s faithful box themselves into this corner anyway? It would have been possible to construct a naturalistic theory of life in which there was no junk DNA. Readers?
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