Home » Genetics, Medicine, News » “At least 1 percent of human genes can be shut down without causing serious disease.”

“At least 1 percent of human genes can be shut down without causing serious disease.”

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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3 Responses to “At least 1 percent of human genes can be shut down without causing serious disease.”

  1. Good study,,, a few relevant notes:

    The following study highlights the inherent fallacy in gene deletion/knockout experiments that have led many scientists astray, in the past, as to underestimating what the minimal genome for life should actually be:

    Minimal genome should be twice the size – 2006
    Excerpt: “Previous attempts to work out the minimal genome have relied on deleting individual genes in order to infer which genes are essential for maintaining life,” said Professor Laurence Hurst from the Department of Biology and Biochemistry at the University of Bath. “This knock out approach misses the fact that there are alternative genetic routes, or pathways, to the production of the same cellular product. “When you knock out one gene, the genome can compensate by using an alternative gene. “But when you repeat the knock out experiment by deleting the alternative, the genome can revert to the original gene instead. “Using the knock-out approach you could infer that both genes are expendable from the genome because there appears to be no deleterious effect in both experiments.
    http://www.news-medical.net/ne.....16976.aspx

    As well, far from the archaic neo-Darwinian view of genes being stand alone entities that can be selected and discarded as needed by evolution, the fact is that genes are extremely ‘poly-constained’ in their interactions in the cell,,,

    Scientists Map All Mammalian Gene Interactions – August 2010
    Excerpt: Mammals, including humans, have roughly 20,000 different genes.,,, They found a network of more than 7 million interactions encompassing essentially every one of the genes in the mammalian genome.
    http://www.sciencedaily.com/re.....142044.htm

    Poly-Functional Complexity equals Poly-Constrained Complexity
    https://docs.google.com/Doc?docid=0AYmaSrBPNEmGZGM4ejY3d3pfMjdoZmd2emZncQ&hl=en_US

    Yet there study finding that ‘on average, a person will have about 20 genes that are completely “lost”’ is another piece of evidence for the principle of Genetic Entropy

    Genetic Entropy – Dr. John Sanford – Evolution vs. Reality – video
    http://vimeo.com/35088933

    Music and Verse:

    Nathan and Meredith Jones – “There’s Still Today”
    http://vimeo.com/36789829

    Psalm 100:3
    Know ye that the LORD he is God: it is he that hath made us, and not we ourselves;

  2. further notes:

    The evidence for the detrimental nature of mutations in humans is overwhelming, for scientists have already cited over 100,000 mutations.

    Inside the Human Genome: A Case for Non-Intelligent Design – Pg. 57
    By John C. Avise
    Excerpt: “Another compilation of gene lesions responsible for inherited diseases is the web-based Human Gene Mutation Database (HGMD). Recent versions of HGMD describe more than 75,000 different disease causing mutations identified to date in Homo-sapiens.”
    http://books.google.com/books?.....38;f=false

    I went to the mutation database website cited by John Avise and found:

    HGMD®: Now celebrating our 100,000 mutation milestone!
    http://www.hgmd.org/

    I really question their use of the word ‘celebrating’. (Of note, apparently someone with a sense of decency has now removed the word ‘celebrating’)

    “Mutations” by Dr. Gary Parker
    Excerpt: human beings are now subject to over 3500 mutational disorders. (of note: this 3500 figure is cited from the late 1980′s)
    http://www.answersingenesis.or.....ations.asp

    And yet while the evidence for humans losing genetic information is simply overwhelming to the point of overkill, I know of not even one instance of a single novel gene or protein being generated by purely neo-Darwinian processes. The plain ‘scientific’ fact is that humans are losing genetic information, and are not evolving into any type of superhumans.,,, Sorry for all you neo-NAZI’s out there;

  3. There may be some genes that are not necessary for our current health, but we need to be extremely cautious in assuming that any particular gene doesn’t have function.

    1- In any system that has redundancy, it is possible, by definition, to break some parts and still have a functioning machine.

    2- In a complex system, some parts may be functional but rarely accessed in every-day life. For example, I do a lot with Word and Excel, but there are definitely functional parts of the programs that I never use and never access. They could be stripped away and I wouldn’t care less. Doesn’t mean they don’t have function.

    3- In addition to every-day living, there are thousands, perhaps millions, of functions that have to be carried out for a multicellular organism like a human to be built in the first place. Once the organism is built, those genes may not need to be used again for the life of the organism. I’m not saying that is the case with the present study, but we have to be very careful with knock-out experiments performed on an already existing and already living organism. Just because the gene isn’t being used for ongoing processes certainly doesn’t mean it doesn’t have function.

    4- Some portions of DNA have function just by the very fact they exist — as spacers in the three-dimensional matrix, as timers that slow the transcription process, etc. Again, I’m not arguing that this is the case with the present study, just something to watch out for.

    Again, there may well be some genes that aren’t necessary or useful. But the history of vestigal claims has an extremely poor track record.

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