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Cover art: Fabric of Life Series #5 Matrix #1 by John Arabolos, Assistant Professor of Visual Arts at the University of New Haven http://arabolosart.com A nanowork from the Silvermine Guild Arts Center http://silvermineart.org/ Technical production by Jodi Pfister.
Three very recent reports provide convincing statistical evidence (P < 10−8), at a genome-wide level, of the association of common polymorphisms with three different common diseases: systemic lupus erythematosus (IRF5), prostate cancer and type 1 diabetes (IFIH1 region). This adds to the trickle—soon to be a flood—of disease association results that are highly unlikely to be false positives. There are other convincing examples in the last 12 months: age-related macular degeneration (CFH), type 1 diabetes (IL2RA, also known as CD25) and type 2 diabetes (TCF7L2). Given 20 years of a literature full of irreproducible results, what has changed?
Plants generate an amazing variety of small molecules and are arguably nature's finest chemists. A new study identifies over 2,000 small molecule mass peaks in the model plant Arabidopsis thaliana and defines both the genetic diversity and genetic architecture controlling the production of these compounds.
The proposal that a distinct subset of colorectal cancers show a marked propensity for promoter CpG island DNA methylation and associated gene silencing has been hotly debated. A new study takes an unbiased approach and not only strongly concludes that a CpG island methylator phenotype exists, but also offers new markers to define a concept that could teach much about the origins of cancer.
A new study shows that the independent adaptation to a ruminant lifestyle in two leaf-eating monkeys relied on parallel amino acid substitutions in ribonuclease gene duplicates. This discovery suggests that, given similar initial conditions, proteins may repeatedly follow similar adaptive evolutionary paths.
Acquired somatic mutations in the transcription factor GATA1 are a defining feature of acute megakaryocytic leukemia in children with Down syndrome. A new study shows that similar inherited GATA1 mutations do not promote leukemia in the absence of trisomy 21 but lead to defects in multiple hematopoietic lineages.
Among the many neurodegenerative diseases caused by repeat expansions, spinocerebellar ataxia type 8 (SCA8) has been something of a puzzle. Now, a new study shows that the CTG/CAG expansion in ATXN8OS (formerly SCA8) is transcribed in both directions, raising the possibility that two molecular mechanisms contribute to disease.