How hot spots of genetic variation evolved in human DNA

phys.org | 3/19/2019 | Staff
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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, examiining the sections of our DNA that are most likely to differ significantly from one person to another.

Findings - History - Light - Malleability - DNA

The findings uncover a complex evolutionary history, shedding light on the malleability of human DNA and pointing to just how adaptable—yet delicate—we are as a species.

"We have made some headway into understanding how variations in the genome occur," says Omer Gokcumen, Ph.D., assistant professor of biological sciences in the UB College of Arts and Sciences. "Which parts of the genome are protected and conserved through evolution? Which parts are not protected, and why?

Work - Variations—deletions - Duplications - Alterations - DNA—they

"There is previous work showing that structural variations—deletions, duplications, other alterations of DNA—they're not distributed uniformly throughout the genome. There are deserts and there are hot spots. The big question is whether this clustering has biological meaning, whether it is random or driven by evolutionary forces. Our research addresses this question."

The study, published online on March 18 in the journal Genome Biology and Evolution, was conducted by Gokcumen and UB biological sciences Ph.D. candidate Yen-Lung Lin, who has since graduated and will soon begin a new job as a postdoctoral researcher at the University of Chicago.

Genome - Entirety - Person - DNA - Genes—the

The human genome is the entirety of a person's DNA. Genes—the fragments of DNA that influence traits such as eye color and risk for disease by telling our bodies how to build important proteins—make up about 1.5 percent of our genomes. The rest consists of noncoding DNA, whose function (or lack thereof) is a topic of debate among scientists.

Every person's genome is different, and the new study compared the DNA of more than 2,500 individuals.

Scientists

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(Excerpt) Read more at: phys.org
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