Nearly three-quarters of mutations in genes that code for proteins – the workhorses of the cell – occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.
"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)
The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.
Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.
The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.
"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.
Baylor College of Medicine: http://www.bcm.edu/news/mediacenter
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
When you’re the size of a human, you worry about lions and tigers and bears. But if you’re …
An amateur fossil hunter has unearthed a 7ft skeleton of a carnivorous marine reptile on a beach in south Wales.
European regulators have recommended approval of the first medicine containing stem cells to treat a rare condition caused by burns to the eye.
Ecologists say birds could hear the oncoming storm from over 100 miles away
Marine scientists plumbing the deepest part of the ocean sent microphones and collection probes baited with chicken to the bottom of a trench near Guam. Now they watch, wait ... and listen.
Lead author of two retracted papers resigns her position after failing to reproduce new approach to generating stem cells
The winners of the 2014 Olympus BioScapes Digital Imaging Competition capture a rat brain, the mouthparts of a vampire moth and other small wonders
By analysing brain activity linked to hand and arm movements, a team has created a robotic arm that a paralysed woman can control with her thoughts
Adding laser tips to ordinary shoes can improve the stride and pace of people with Parkinson's disease
Technique could someday help repair injuries