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Researchers from the Telomere-to-Telomere Consortium have discovered new properties about junk DNA that could have wide-reaching implications.
Published in the journal science under the unassuming title “Filling the Gaps”, researchers from the Telomere-to-Telomere (T2T) Consortium have reported an advance that may prove instrumental in scientific understanding of human evolution. While the first full human DNA assembly is not yet completed, researchers disentangled most of the remaining 8% of the human genome by making sense of complex repeat sections of the telomeres and centromeres, including the “short arms” of the five chromosomes where centromeres are skewed toward one end.
Historically, these short arms have frustrated biologists – they were believed to operate genes encoding ribosomes, the protein plants of our cells, but a comprehensive understanding eluded them. According to Adam Phillippy, a bioinformatician at the National Human Genome Research Institute, T2T researchers now believe that short arms are likely hotspots for gene evolution. Because gene copies are “parked” there, they can mutate and take on new functions.
This catalog of duplications could be used to gain information on neurological and developmental disorders that are linked to variations in the number of copies of specific sequences. Additionally, Phillippy states that chemical modifications to DNA in the complex repetitive areas are likely to play a role in disease.
This role in disease centers around immunology and drug absorption could have wide ranging implications for drug targeting, delivery, and pharmacokinetics. Here we have the kind of dogged persistence, quietly executed in comparative isolation, that often is looked back upon as ground-breaking. Making sense out of what appears to most as random repetition is a common scientific undertaking. Finding out what lies beneath is of huge biomedical value and well worth pausing for a moment to celebrate.