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Volume 39 Issue 4, April 2007

Cover art: Structured Chaos by Tina Blackburn From the exhibition "Culture and DNA" at the Silvermine Guild Galleries http://www.silvermineart.org

Volume 39 Issue 4

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Editorial

  • The successor to the Human Genome Project intends to establish, by international cooperation, an encyclopedic catalog of sequence variants indexed to the human genome sequence.

    Editorial

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Correspondence

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Commentary

  • Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization–cosponsored meeting on June 20–23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations.

    • Richard G.H. Cotton
    • William Appelbe
    • Michael Watson
    Commentary
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Book Review

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News & Views

  • The possibility of deep population resequencing of genes has generated excitement over its potentially promising role in understanding complex human traits. A new study has now demonstrated the utility of this approach, reporting the resequencing of a lipid metabolism gene in a large multiethnic population and definitively showing that coding variants in the gene are associated with plasma triglyceride levels.

    • Eric J Topol
    • Kelly A Frazer
    News & Views

  • Epistasis is an interaction among genes that makes the phenotypic effect of an allele dependent on which alleles are present at other loci. Two new genomic studies find abundant epistasis in the yeast genome, with significant implications for the evolution of sex and for the inference of genetic pathways from genomic data.

    • Clifford Zeyl
    News & Views

  • DNA methylation is a heritable epigenetic mark found in a wide range of eukaryotes. By mapping DNA methylation within the majority of human promoters, the authors of a new study uncover intriguing insights into genome evolution, cellular differentiation and potential links to tumorigenesis.

    • Daniel Zilberman
    News & Views

  • A new study suggests that manipulating the expression of a Drosophila melanogaster neurofibromatosis-1 ortholog affects organismal lifespan through protein kinase A–mediated regulation of mitochondrial respiration and reactive oxygen species production. These results provide a new and unexpected twist to the study of NF1 signaling.

    • James A Walker
    • André Bernards
    News & Views

  • Recent reports of premature aging in mutant mice with greatly increased rates of mitochondrial DNA mutagenesis (so-called 'mitochondrial mutator mice') appeared to confirm that accumulation of mtDNA mutations is a key mechanism of normal aging. Now, in a dramatic turnaround, a new study reports that levels of point mutations in tissues of aged normal mice are much lower than in the mutator mice, apparently ruling out a causal role in normal aging.

    • Konstantin Khrapko
    • Jan Vijg
    News & Views
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Brief Communication

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Article

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Letter

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Corrigendum

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