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Copy number variation and the secret of life – with Aoife McLysaght



The Royal Institution

Evolution is powered by variation: the differences in DNA sequences. One hugely important form of difference is copy number variation, where genes are duplicated or deleted from one generation to the next.

In this Ri event, Aoife McLysaght from Univeristy of Dublin explains how copy number variations gave us colour vision, a sense of smell and haemoglobin in our blood, before exploring the role they play in diseases such as cancer, autism and schizophrenia.

The event ‘Too Much of a Good Thing’ was presented at the Ri on Friday 28 March and forms part of the Ri’s all-women line up for Friday Evening Discourses in 2014 as part of a year-long celebration of women in science.

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39 thoughts on “Copy number variation and the secret of life – with Aoife McLysaght
  1. Yes great lecturer at captivating her audience… Still it doesn't elucidate the secret of life, how and by what mechanism genes were created in the first place … It's mostly all about how genes might/ have evolved with beneficial or disabling traits.

  2. To think that stupid atoms can know, plan, and functionally design for the complex interactions between molecular bonds with only adding time is fantasy. Just give it enough time and it will happen. Time and individually brilliant atoms are your magic for your fairytale. You speak of just how complex coding is in just one DNA and you think random chance can add such coding. Set your computer on the bench. How many years will it take for it to write windows operating system to run it without anyone programming? Now how far more complex and compressed is the coding in DNA? Natural selection is a reductive process. It removes genetic diversity it never adds to the DNA. I am hearing just fantasy from you. Cut and paste someone else’s work is your answer??? lol in writing that is called plagiarism. New useful coding just writes itself? lol yeah tell that to anyone who codes programming for a living. Say to them, “take a vacation and it will write itself.”

  3. How's this for sensible? Put a new, totally unique organism created by man from chemicals, No parts from pre-existing living things on the table in front of her. That will pass the scientific method. Like the Fleischmann-Ponds experiment claiming cold fusion in the 1980's….at the Institute de Ernst Haeckel… Put up or shut up..

  4. "It doesn't matter how complicated the message is.. its very simple.." ? The use of 'complex' and 'simple' in this completely undefined, disconnected, rubbery way is typical of naturalists who do not understand the terms 'entropy' or 'information' which are crucial and fundamental to how we may use 'complex' and 'simple' in any meaningful way that relates to DNA..

    As such she seems to have no idea how she is engaging in a deceptive slight of hand totally missed by her listeners here.. who.. will agree the power of evolution is in natural selection but seem totally unaware natural selection does not operate in two critical scenarios..
    (1) – Abio-genesis (no reproduction means no copying)
    (2) – Multi-part machinery (parts have zero selection value)

    Which means extremely complex assembly is required by random chemistry against the massively powerful axioms of probability, which even on a limited case analysis completely falsifies evolution as a violation of the second law (but you must understand entropy to know how to do that)..

  5. "the telegraph machine is really simple".. the key shown is not simple.. but most importantly it was designed and illustrated perfectly why a multi-part machine could never evolve because the parts individually have no selective value. In all life forms the machinery for reading DNA is far more complex than the morse key shown, which we know could never evolve..

    She quotes the human DNA project staggering 200 volume result when printed but fails to mention WHEAT.. which supposedly 'evolved' before humans has five time the DNA.. that would be 1000 volumes.. Clearly we may see DNA does not follow the 'predicted' pattern of simple to complex as in the evolutionary model..

    When are you people going to wake up..

  6. Clearly stated "genes that become non-functional do not get selected" verifying my statement about multi part machines.. falling outside the model of evolution..

  7. If globins (store oxygen in muscles) are the evolutionary ancestors of hemoglobin (stores oxygen in blood) how long did muscles have to wait till they got the blood supply they need to live.. You might think of all the components required for the supply of blood not just the blood itself.. so you simultaneously need a heart and circulatory system on a grand scale supplying the muscles at the almost molecular level before hemoglobin could do what it does.. Of course all that is air brushed out of the picture..

  8. Regarding the gestation of mammalian babies getting oxygen through the "marvelous" (read low entropy) structure called the placenta she says.. "its magic".. Well with all the slight of hand going on the whole presentation is akin to a magic trick..

  9. "when we look at DNA of a huge number of animals which happened of over a huge amount of time". Sorry but all that DNA is extant now.. there is no ancestry in the fossil record so the DNA is measured but the time element is assumed.. nowhere are the assumptions clarified in this presentation..

  10. In regard to vertebrate evolution "at first it was a theory.. later proved by the data".. Sorry science does not and cannot prove anything.. Science only falsifies theories.. (like evolution)..

  11. What I want to know is what spurred the radical move of duplicating the whole genome? Not just once but three times in all! Could it have been the levels of oxygen in the global environment I wonder? Clearly an opportunity was discerned and the organisms seized it. But how?

  12. Fluid theory (Reproduction/Feed/Reasoning) decanted selfmultidimentionalover…
    The polydynamics of the movement generates pseudo-autonomy as material property, of the autogenous phenomenon; existing.(…)
    Simultaneous as my unidimensional variability…
    unidimensional variability = live-beings

  13. 17:44 "Rhodopsin" doesn't derive from "rod" -opsin, but from the Greek word for pink ("rhodon"), because of its colour. (Just for info, and not a criticism.)

  14. Chromosome 21 doesn't just have the fewest dosage sensitive genes (ie, protein-coding sequences), but the fewest genes, period. Though slightly larger than #22, it carries only about half as many genes.

    Trisomy mutations of course happen with all chromosomes, but most are so damaging that the developing embryos spontaneously abort. A few other trisomy victims can survive to be born, but don't live long. Only Trisomy 21 has so little effect that its sufferers, people with Downs Syndrome, can survive into adulthood.

  15. I know nothing of biology but I found this video when I was reading about copy number variation by chance. I immediately understood it as the process of sin and repentance in the body as I was looking through the light of the Holy Spirit who will teach us all things.

  16. This is something I needed to know. I have this idea to make special neural networks that evolve.(Not a new idea but mine is an improvement). I was wondering how genomes get longer over time and I'm pretty sure I found the answer in gene duplication. I also think it solves other problems I predicted, I can't remember. I just had it on the tip of my brain but I lost it.

  17. the way that you say "evolution" might be a problem. "evil" "lution" is what you are saying. folk don't wanna hear that, particularly we dumb americans who say "evo" "lou" "shin". sorry, but if the first part of the word is (or sounds like) "evil" you aren't going to get much traction.

  18. her name. what a kickass name. sounds like it's destined for greatness.
    i bet when she tried to make an account and typed just her first name, google was like… yeah that's available.

  19. If eevolution were so decided in the manner Aoife firmly describes at the introduction, why go on with the presentation. Unless, of course, the presentation of the "secrets" does soundly support eevolution; in which case, why the fractured introduction at all? She's opened with a fear response; an us-against-them argument. It does not sound so "Royal" to me.

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