In Nature this week, the cover story is an editorial headlined "The human genome at 10." In it, the journal looks back at the efforts of the Human Genome Project and Celera Genomics — which jointly announced their complete sequences in June 2000 — and conjures a prospective view of what's to come in the post-genome decade. "For many scientists, the chronicle of that first decade is an intensely personal one," the editorial says. "Not only were they inspired by this example of what researchers can do as group, but they found that the availability of the sequence shaped their lives and their research in ways they could not have predicted." The editorial links to several human genome-themed news features and opinion articles, including commentary from National Institutes of Health director Francis Collins, Robert Weinberg, co-founder of the Whitehead Institute, and Craig Venter.
Also in this week's issue of Nature, the Wellcome Trust Case Control Consortium reports their genome-wide association study of copy number variants in eight common human diseases. In their examination of 3,432 distinct polymorphic CNVs in approximately 19,000 individuals, the WTCCC identified multiple biological artifacts leading to false-positive association, "including systematic CNV differences between DNAs derived from blood and cell lines," they write. Their replications confirmed three loci where CNVs were associated with diseases; two loci for Crohn's disease, one for rheumatoid arthritis, one for type I diabetes, and one for type II diabetes. "In each case the locus had previously been identified in single nucleotide polymorphism-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies," the authors write, a finding that suggests CNVs can be typed on existing platforms and "are unlikely to contribute greatly to the genetic basis of common human diseases."
A collaborative research team led by investigators at The Genome Center at Washington University in St. Louis presents their structural, functional, and comparative analysis of the Taeniopygia guttata — zebra finch — genome. The team reports that the overall genome structures of the zebra finch and chicken are similar, they differ in "intrachromosomal rearrangements, lineage-specific gene family expansions, the number of long-terminal-repeat-based retrotransposons, and mechanisms of sex chromosome dosage compensation." They write that song behavior engages gene regulatory networks in the bird's brain, which alter the expression of long, non-coding RNAs, miRNAs, transcription factors, and their targets. "These results indicate an active involvement of the genome in neural processes underlying vocal communication and identify potential genetic substrates for the evolution and regulation of this behavior," the authors conclude.
Members of the Mitocheck Consortium and their colleagues report their discovery of cell division genes by the phenotypic profiling of the human genome using gene silencing by RNAi, time-lapse microscopy, and computational image processing. Their genome-wide profiling experiment examined each of the approximately 21,000 human protein-coding genes. They found that nearly 600 of these genes participate in mitosis. "The end result is that we now have a very rich resource for the scientific community, as we're making all the movies and all the analysis data freely available online," Jan Ellenburg of the European Molecular Biology Laboratory says in a statement. "Scientists can go to the website, type in the name of their favorite gene, and watch what happens when it is silenced; they can find out what other genes have similar effects — all in a few mouse clicks, instead of months or years of work in the lab!"
Credit: Thomas Walter/EMBL