Mutant of the Month

Image courtesy of Kurt Gürsu, http://www.turkishtumblers.com

Tumbler pigeons circle upwards, often to great heights, before tumbling or rolling over and over as they fall towards the ground. Tumbling is synchronized with normal wing movements, propelling the bird backward at 8–10 somersaults per second (Nature 252, 706–708; 1974). Tumbling is not due to epilepsy or other neurological defect, and unlike the muscle of the fainting goat (Nat. Genet. 37, 217; 2005), tumbler pigeon muscle is not myotonic. Charles Darwin recognized the interaction of mutation and artificial selection and cited the tumbler in support of the mechanism of evolution by natural selection: “We may believe that some one pigeon showed a slight tendency to this strange habit, and that the long-continued selection of the best individuals in successive generations made tumblers what they now are; and near Glasgow there are house-tumblers, as I hear from Mr. Brent, which cannot fly eighteen inches high without going head over heels.” (in The Origin of Species) MA

Epidemiology networks

The Human Genome Epidemiology Network (HuGE Net) recently launched an international initiative for promoting consortia in genetic epidemiological studies (Nat. Genet. 36, 1027–1028; 2004). This collective has now grown to include 23 disease- or topic-specific consortia and aims to facilitate the creation of registries that would include all teams working on the genetic background of each specific disease. Each contributing investigator agrees to share data from his or her genetic epidemiological studies, making these available in a central searchable database. The initiative will also create a forum to facilitate discussion between networks, allowing researchers to share experiences in launching, maintaining and funding large-scale collaborative studies in human genome epidemiology. A key concern in launching this collective has been the methodological issues involved in synthesizing information on disease associations. Ongoing questions include what standards to enforce for the studies included, as well as how to standardize phenotype and genotype information across studies with very different design and methods. The consortium will hold its next meeting on 6–7 October 2005 in Cambridge, UK, and welcomes consortia that are interested to join and send their representatives. More information can be found online at http://www.cdc.gov/genomics/hugenet/. OB

Daisuke's dark secret

Admirers of Japanese animation will no doubt be flocking to movie theaters this summer to see Hayao Miyazaki's well-reviewed Howl's Moving Castle. For those interested in genetically influenced (and lower profile) anime, we recommend DNAngel, based on the popular comic book series by Yukiru Sugisaki, and just out on DVD in the UK from ADV Films. DNAngel tells the story of Daisuke, a teenager with an unusual problem. According to the Anime UK News website, “due to a strange quirk of genetics, Daisuke's been cursed with an ancient family affliction that's sure to put some major kinks in his relationship with the opposite sex.” This apparently X-linked disorder manifests on his 14th birthday as the tendency to turn into a legendary thief named 'Dark' whenever he has romantic feelings for his beloved. This is quite possibly the most remarkable mendelian disease ever described. Assuming satisfactory sales, we anticipate that Daisuke's male ancestors will be appearing in prequels for many years to come. Founder effect, anyone? AP

Multiplexing

On 31 May 2005, Affymetrix Inc. announced that it will acquire ParAllele Bioscience. Affymetrix produces fixed arrays with probes for allele-specific hybridization that allow for detection of up to 100,000 SNPs; ParAllele produces customizable molecular inversion probes (also called padlock probes) that allow for multiplexed genotyping in one reaction followed by detection on a standard tag array (both technologies, along with other SNP genotyping assays, are reviewed in Nat. Genet. 37 Suppl., S5–S10; 2005). Fiona Brew of Affymetrix, speaking recently at the Human Mutation Detection meeting in Santorini, Greece, urged investigators searching for common genetic variants that predispose to disease to use fixed arrays for whole-genome association studies and then genotype target candidate regions at high density with molecular inversion probes. EN

Credit: Cartoon by Sean Taverna

Touching Base written by Myles Axton, Orli Bahcall, Alan Packer and Emily Niemitz.