What makes one person different from one another, and how did these differences evolve?
A study by University at Buffalo biologists is illuminating one aspect of this complicated question. The research examines hot spots of genetic variation within the human genome, examining the sections of our DNA that are most likely to differ significantly from one person to another.
[Researchers identified] 148 areas that harbor unusually high numbers of structural variants, including chunks of duplicated, deleted, inserted, inverted or repeated sections of DNA.
Most are found in gene-poor regions of the genome, as expected. (Altering genes can lead to devastating health problems, so it makes sense that gene-rich areas would tend to be more heavily conserved through evolution, [professor Omer] Gokcumen explains.)
However, a small subset of structural variant hot spots is found in parts of the genome that harbor important genes. In these hubs, genes linked to our sense of smell, blood and skin function, and immunity to disease are overrepresented, according to the study.
Balancing selection—in which dueling evolutionary forces drive a species to preserve an array of traits—may help to explain why these gene-heavy hot spots exist.
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