Human genetics: The mysterious unequal mutation by sex

By the numbers, geneticists thought about mutations like this: There are six billion pieces (nucleotides) of genetic information in the genome. Three billion provided by the mother and three billion from the father. Based on evolutionary studies, previous estimates reckoned about 100-200 mutations would be passed on to each child. It was assumed that because the male genome is copied millions of times during the creation of sperm, compared to the tiny number of eggs produced by the female, most of the mutations would be coming from the father. Apparently not.

Research by Philip Awadalla, University of Montreal (Canada) and Matt Hurles, Wellcome Trust Sanger Institute (Cambridge, UK) and published in Nature Science [12 June 2011, paywalled, Variation in genome-wide mutation rates within and between human families], indicates that the actual number of mutations we receive from our parents is about 60 – roughly a third of the original estimate. That means, among other things, that the rate of evolution based on genetically inheritable mutations is much slower than thought.

The research also indicates that the number of mutations provided by the mother and father varies. In one case the father provided 92 percent of the mutations, in another case the mother provided 64 percent. Note, however, that these two cases were the only cases in the study. This significant limitation was imposed by the difficulty and cost of sequencing and sorting the genetic information. While these findings are extremely interesting and point to factors based on family or environment, this study must be considered preliminary to hopefully much larger studies in the future.

Research Spectrum

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One Comment

  1. Dov Henis
    Posted July 9, 2011 at 3:07 am | Permalink

    Natural genetic mutation rates are driven ONLY by person’s cultural evolution…

    Humans’ Cultural Evolution Rate Shown To Have Slowed Down

    “how species come to be…”

    What drives “species come to be” is what drives all life/organisms to come to be, i.e. a proven successful route, circumstantially evolved culture, that enhanced the RNAs’ constrained energy by the culturally enhanced RNAs’ proliferation, followed with accordingly alternatively spliced expression.

    This is evolution, i.e. enhanced constrained energy to delay-postpone the universal conversion of mass-formats to energy, to the energy that keeps fueling the expansion of the universe. This expansion will be overcome by gravity upon depletion of the universe’s massfuel, and will be followed by empansion for accelerating reverting of energy to mass all the way back to singularity. The universe is an allmass allenergy poles affair.

    Dov Henis
    (comments from 22nd century)

    - It’s culture that modifies genetics, that changes gene’s expression. NOT vice versa.
    - Epigenetics YOK. Alternative splicing is epiDNAtic, not epigenetic.
    - ALL life is RNAs evolution products. RNAs are Earth’s prime organism.


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