Our Missing Genes

New research suggests that the average person has about 20 genes with loss-of-function mutations—many more than previously suspected.

Feb 17, 2012
Sabrina Richards


New research published today (February 17) in Science suggests that our genomes, even those from healthy people, may harbor a surprising number of missing and mutated genes, reports ScienceNOW. Using 185 individual genome sequences from the 1000 Genomes Project, an international team of researchers identified 2,951 mutations that, rather than being sequencing errors, might instead be “loss-of-function” mutations that cripple their genes.

The researchers culled 1,285 mutations from this pool using stringent filtering to identify the mutations most likely to result in loss of function. Of these, 100 are found frequently in European genomes. On average, a person will have about 20 genes that are completely “lost”—meaning that both alleles have inactivating mutations. Given the apparent high rate of such mutations, the researchers write that there is “need for caution in assigning disease-causing status to novel gene-disrupting variants found in patients.”

"This shows how careful we need to be when drawing inferences about such mutations," geneticist Peter Visscher of the University of Queensland in Australia, who was not involved in the research, told ScienceNOW.