1 In 200 Human Genes Superfluous?

1 In 200 Human Genes Superfluous?
1 in 200 of our human genes can be inactivated with no detectable effect on our health. A study by Wellcome Trust Sanger Institute scientists raises new questions about the effects of gene loss on our wellbeing and evolution.


The study, published in The American Journal of Human Genetics, explores single letter changes in our genetic code that affect the ability of genes to produce proteins. The researchers’ findings suggest that such mutations, while sometimes harmful, generally have little consequence for the individual and may occasionally even be beneficial in evolutionary terms.

The team studied variations in the genetic code of more than 1000 people from around the world. They focused their work on single-letter changes (called SNPs) that disrupt proteins, leading to versions that are either shorter or completely absent. One might intuitively expect that such a change - called a nonsense-SNP - would be harmful to the person.