In “Our Missing Genes” (The Scientist, February 18, 2012), Sabrina Richards reports,
New research suggests that the average person has about 20 genes with loss-of-function mutations—many more than previously suspected.
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.”
Or, as Kelley Kelland at Reuters puts it,
Scientists studying the human genome have found that each of us is carrying around 20 genes that have been completely inactivated, suggesting that not all switched-off genes are harmful to health.
“This shows that at least 1 percent of human genes can be shut down without causing serious disease,” said Mark Gerstein, a professor of biomedical informatics from Yale University in the United States, who also worked on the study.
Will they end up being called “vestigial genes”?
See also: Are transposable elements the new junk DNA?
Are retrotransposons junk?
Darwin’s junk DNA zealots “have forfeited any claim … to be speaking for science”
Your appendix: the king of vestigial organs has a job again
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