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What happens at the core of main sequence stars? What is the sequence of protein synthesis? What happens when a protein sequence changes? These short arms are also full of repeats that had never been entirely sequenced until now. Centromeres, short arms, and other types of repeating regions made up most of the million letters the consortium ultimately added or corrected in the human genome.
Geneticists have focused largely on genes because their function is obvious and simple: A gene encodes a protein. One big surprise of the earlier drafts of the human genome is how little of our DNA actually encodes proteins— only 1 percent.
The role of the remaining 99 percent is becoming clearer. Indeed, there have been hints that these repeat-rich regions also play important roles in how genes get expressed and passed on, and anomalies in them have been linked to cancer and aging. The consortium found 79 new genes hidden among the repeats too. With a map of these repeating regions finally in hand, scientists can probe more carefully their function.
Phillippy, a computer scientist by training, brought technical chops. Traditional sequencing technologies fragment DNA into small pieces, and computer algorithms have to reassemble them like puzzle pieces.
The problem is that the pieces from repeating regions all look nearly the same. The role of centromere sequences, like many other repeating regions, is not yet fully understood, but they are most classically known as the key to cell division. When a cell divides in two, a protein spindle attaches to the centromeres, yanking the chromosomes apart to make sure that each cell gets the right number.
When this goes wrong in eggs or sperm, babies can be born with chromosomal anomalies such as Down syndrome or Turner syndrome. What's the main reason for your rating? Which of these best describes your occupation? What is the first part of your school's postcode? How has the site influenced you or others? Thankyou, we value your feedback! We use cookies to improve this site.
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