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.
Designed to give paralysed people more independence, the implant also lets us see if brain activity can show a person's decisions – before they realise they've made any
Australopithecus deyiremeda, which lived about 3.4 million yeas ago, suggests our ancestors were more diverse than we thought
Scientists say it's not just a murder from another era, but also part of one of the earliest mass graves.
Wild birds identify “good” seeds without first opening the shells by weighing them and by listening to the sound produced when clicking their beaks on the shell, according to a recent study
139 new species were identified in South East Asian region in 2014, including four moths named after Thai princesses and a new mammal
A genetically engineered version of a virus that normally causes cold sores shows real promise for treating skin cancer, say researchers.
An experimental Parkinson's treatment abandoned in the 1990s has been revived – and could restore a person's control of their movement within five years
The White House said on Tuesday the ethical issues associated with gene-editing on the human genome need further study by the scientific community and should not be pursued until issues are resolved.
The ancient water supply system was discovered by construction workers digging a new sewer
Faux eggs made with 3-D printers are better than sculpted versions, researchers say, because it's easier to systematically vary their size, weight and other features. Next goal: 3-D fragile shells.