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Volume 488 Issue 7412, 23 August 2012

De novo mutations are important both as sources of diversity in evolution and for their immediate impact on diseases. Scientists at deCODE genetics and their colleagues have used whole-genome sequencing data from 78 Icelandic parent–offspring trios to study mutation rates in humans at the genome-wide level. They find that diversity in the mutation rate of single nucleotide polymorphisms is dominated by the age of the father at the time a child is conceived. For each year increase in the father’s age at conception, the number of mutations increases by about two, and once the effects of random variation are accounted for the father’s age is estimated to explain almost all of the remaining variation in the de novo mutation counts. Furthermore, the results show that demographic transitions that affect the age at which males reproduce can have a considerable effect on the rate of mutations, and consequently on the risk of diseases such as schizophrenia and autism. Cover image: Topic Photo Agency / Corbis.

Editorial

  • The international body set up to address the loss of biodiversity must take account of more than just science if it is to fulfil its mission.

    Editorial

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  • Nomenclature rules can disrupt planetary scientists' fun, but they serve a purpose.

    Editorial
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World View

  • The Higgs boson, and its role in providing a rational explanation for the Universe, is only part of the story, says Daniel Sarewitz.

    • Daniel Sarewitz
    World View
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Research Highlights

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Seven Days

  • The week in science: Gene patents upheld again; NASA picks next Mars mission; and Australia’s plans to control tobacco survive legal challenge.

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News

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Correction

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News Feature

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Comment

  • The intergovernmental body for biodiversity must draw on a much broader range of knowledge and stakeholders than the IPCC, say Esther Turnhout and colleagues.

    • Esther Turnhout
    • Bob Bloomfield
    • Brian Wynne
    Comment
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Books & Arts

  • Ewen Callaway discovers compelling cross-currents in two very different displays of dead animals exhibited just a few kilometres apart.

    • Ewen Callaway
    Books & Arts
  • Jennifer Rohn enjoys an epic novel about scientists, the media, ethics and society.

    • Jennifer Rohn
    Books & Arts
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Correspondence

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Obituary

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News & Views Forum

  • New research backs the contentious idea that solid tumours are not masses of equivalent cells, but instead contain cancer stem cells that support tumour maintenance. Here, two experts provide complementary views on the findings and on the implications for potential therapies. See Letters p.522 & p.527

    • Richard J. Gilbertson
    • Trevor A. Graham
    News & Views Forum
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News & Views

  • A neat experiment shows that if a current is sent through one of two adjacent conducting layers placed in a strong magnetic field, a quantum effect generates an exactly equal but opposite current in the other layer. See Letter p.481

    • Steven M. Girvin
    News & Views
  • To understand how blood vessels form and function, scientists require reproducible systems that mimic living tissues. An innovative approach based on microfabricated vessels provides a key step towards this goal.

    • Claudio Franco
    • Holger Gerhardt
    News & Views
  • The identification of an enzyme in rice that confers improved plant yields on phosphorus-deficient soils could open up new avenues for generating nutrient-efficient crops that can thrive on marginally fertile soils. See Letter p.535

    • Leon V. Kochian
    News & Views
  • A comprehensive analysis of human spontaneous mutation has revealed a strong influence of paternal age, suggesting a link between an increasing number of older fathers and the rise in disorders such as autism. See Article p.471

    • Alexey Kondrashov
    News & Views
  • A measurement by satellite altimetry shows the Himalayan glaciers to be losing mass at only moderate rates, but raises broader questions about other methods for estimating mass balance. See Letter p.495

    • J. Graham Cogley
    News & Views
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Article

  • Whole-genome sequencing of 78 Icelandic parent–offspring trios is used to study the de novo mutation rate at the genome-wide level; the rate is shown to increase by about two mutations a year as a function of the increasing age of the father at conception, highlighting the importance of father’s age on the risk of diseases such as autism and schizophrenia.

    • Augustine Kong
    • Michael L. Frigge
    • Kari Stefansson
    Article
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Letter

  • The effect of quantum radiation-pressure fluctuations on the collective motion of ultracold atoms is observed in a cavity-optomechanical system, and the back-action of this motion on the cavity light field is shown to produce sub-shot-noise optical squeezing.

    • Daniel W. C. Brooks
    • Thierry Botter
    • Dan M. Stamper-Kurn
    Letter
  • An electronic current flowing in one conductor can induce a drag current in another spatially separated conductor by means of Coulomb interactions; when these interactions are sufficiently strong the currents become equal and the drag therefore ‘perfect’, as shown here for a bilayer two-dimensional electron system.

    • D. Nandi
    • A. D. K. Finck
    • K. W. West
    Letter
  • Organic ferroelectrics with switchable electrical polarization would be an attractive prospect for applications if their Curie temperature—below which these materials display ferroelectric behaviour—could be raised to room temperature or above; this goal has now been achieved with a family of organic materials characterized by a supramolecular structural motif.

    • Alok S. Tayi
    • Alexander K. Shveyd
    • Samuel I. Stupp
    Letter
  • The longest continuous record of global atmospheric ethane levels is presented, showing that global ethane emission rates decreased by 21 per cent from 1984 to 2010, probably owing to decreased venting and flaring of natural gas in oil fields; decreased venting and flaring also account for at least 30 to 70 per cent of the decrease in methane emissions over the same period.

    • Isobel J. Simpson
    • Mads P. Sulbaek Andersen
    • Donald R. Blake
    Letter
  • Data for the Hindu Kush–Karakoram–Himalaya region from satellite laser altimetry and a global elevation model shows that glacier thinning varied by an order of magnitude across the region, with surface debris not seeming to provide effective insulation, and that the melting ice added several per cent to the annual discharge of the mountain rivers.

    • Andreas Kääb
    • Etienne Berthier
    • Yves Arnaud
    Letter
  • Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.

    • Chi-Hong Wu
    • Claudia Fallini
    • John E. Landers
    Letter
  • A group of dopamine neurons that are distinct from those mediating aversive reinforcement is found to signal sugar reward in the fly brain, highlighting the evolutionarily conserved function of dopamine neurons in reward processing.

    • Chang Liu
    • Pierre-Yves Plaçais
    • Hiromu Tanimoto
    Letter
  • Using genetic lineage tracing, tumour cells are traced in vivo in an unperturbed solid tumour; in a carcinogen-induced papilloma mouse model, cells in these benign lesions are found to mirror the clonal hierarchy organization of normal tissue.

    • Gregory Driessens
    • Benjamin Beck
    • Cédric Blanpain
    Letter
  • Two high-affinity proton-dependent transporters of glucosinolates have been identified in Arabidopsis and termed GTR1 and GTR2; these transporters are essential for transporting glucosinolates to seeds, offering a means to control the allocation of defence compounds in a tissue-specific manner, which may have agricultural biotechnology implications.

    • Hussam Hassan Nour-Eldin
    • Tonni Grube Andersen
    • Barbara Ann Halkier
    Letter
  • A gene that is present in phosphate-deficiency-tolerant rice but absent from modern rice varieties is characterized and named phosphorus-starvation tolerance 1 (PSTOL1); overexpression of PSTOL1 in rice species that naturally lack this gene confers tolerance to low phosphorus conditions, a finding that may have implications for agricultural productivity in rice-growing countries.

    • Rico Gamuyao
    • Joong Hyoun Chin
    • Sigrid Heuer
    Letter
  • The human CST complex is shown to interact with the telomeric primer and the POT1–TPP1 complex to inhibit telomerase activity in late S phase, thereby keeping unrestrained telomere lengthening in check.

    • Liuh-Yow Chen
    • Sophie Redon
    • Joachim Lingner
    Letter
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Feature

  • Personality and vocation tests can help researchers to improve their 'soft skills' and find careers that suit them.

    • Corie Lok
    Feature
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Q&A

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Futures

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Brief Communications Arising

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