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The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for studying intact polygenic networks and interactions among genes, environments, pathogens and other factors. The Collaborative Cross will provide a common reference panel specifically designed for the integrative analysis of complex systems and will change the way we approach human health and disease.
Transcriptional silencing in fission yeast requires several core components of the RNA interference machinery. A new study suggests that the recently discovered RNA-induced initiation of transcriptional gene silencing complex binds stably to silent chromatin, where it recruits short interfering RNAs and destroys nascent RNA molecules in cis.
A new study shows that Fanconi anemia complementation group B is caused by mutations in a previously uncharacterized gene located on the X chromosome. Its unique chromosomal localization identifies FANCB as a potential weak link in a key DNA-repair and tumor-suppressor pathway.
Truncating and missense mutations in BUB1B, encoding the mitotic spindle checkpoint protein BUBR1, have been identified in individuals with mosaic variegated aneuploidy. This finding supports the idea that there is a genetic basis for aneuploidy in cancers.
One challenge in modern biology is to understand the detailed genetic basis of variation for quantitative traits, including complex behaviors. A new study shows that historical recombination in outbred strains combined with functional complementation tests can identify pleiotropic genes with small effects on naturally occurring variation for anxiety-related behaviors in mice.
Defects in the breakdown of gangliosides are associated with a class of disorders known as lysosomal storage diseases. Now, a defect in the synthesis of gangliosides, glycolipids that contain sialic acid and are abundant in the brain, has been shown to underlie an inherited form of epilepsy.
The human genome contains both enough variation for us all to be genetically unique individuals and little enough variation that it is clear we are all members of one human race.