Últimos 5.000 anos prolíficos para mudanças no genoma humano

Past 5,000 years prolific for changes to human genome

High-resolution sequencing study emphasizes importance of rare variants in disease.

Nidhi Subbaraman

28 November 2012

The human genome has been busy over the past 5,000 years. Human populations have grown exponentially, and new genetic mutations arise with each generation. Humans now have a vast abundance of rare genetic variants in the protein-encoding sections of the genome 1, 2.

A study published today in Nature 3 now helps to clarify when many of those rare variants arose. Researchers used deep sequencing to locate and date more than one million single-nucleotide variants — locations where a single letter of the DNA sequence is different from other individuals — in the genomes of 6,500 African and European Americans. The findings confirm their earlier work suggesting that the majority of variants, including potentially harmful ones, were picked up during the past 5,000–10,000 years. Researchers also saw the genetic stamp of the diverging migratory history of the two groups.

Humans are carrying around more harmful mutations in the last 5,000 years.

CHRIS DASCHER / GETTY IMAGES

The large sample size — 4,298 North Americans of European descent and 2,217 African Americans — has enabled the researchers to mine down into the human genome, says study co-author Josh Akey, a genomics expert at the University of Washington in Seattle. He adds that the researchers now have “a way to look at recent human history in a way that we couldn’t before.”

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Read more here/Leia mais aqui: Nature