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Silencing gene expression by RNA interference (RNAi) has become a daily activity for mammalian cell biologists. Those who often use this approach have come to appreciate its occasional frustrations and potential limitations. A pair of recent papers in Cell provides rules for designing short interfering RNAs (siRNAs) that are both validated at the practical level and understood mechanistically.
A new study shows that mutations in Col6a, encoding collagen VI, cause muscle degeneration by affecting a distant target, the mitochondrion. The results show how elucidating the cellular consequences of genetic defects may provide unexpected perspectives into disease mechanism.
The runt-domain family of transcription factors (RUNX) have long been known to have a role in leukemogenesis and neoplasia. New evidence suggests a central role for these proteins in the development of autoimmunity.
A new study shows that the kinase WNK4 is a molecular switch that regulates the trafficking of both a sodium-chloride cotransporter and a potassium channel in the kidney. This finding suggests a key role for WNK4 in ion homeostasis in health and disease.
A deletion that removes 1.6 Mb of DNA and several genes from the Y chromosome increases its carriers' chance of infertility, yet is present in ∼2% of men. The Y chromosome can no longer be regarded as a neutral locus in evolutionary studies.
Retroviruses make up a large proportion of the mammalian genome. A new study shows that an mRNA nuclear export receptor can act as a modifier of endogenous retrovirus insertion mutations by interacting with the mutated pre-mRNA.
The actin-associated kelch-domain protein Keap1 acts upstream of the transcription factor Nrf2. Upon stress, Keap1 releases Nrf2 to activate the transcription of target genes. A new study now shows that these targets include keratins and cornified envelope proteins, possibly explaining why certain keratin mutations predispose to chemical injury. The Keap1-Nrf2 partnership offers a mechanistic explanation for the response of tissues to mechanical and chemical injury.
Synthetic lethality occurs when two otherwise nonlethal mutations together result in an inviable cell. A new study describes a rapid approach to identify synthetic lethal mutations in yeast.
Ischemic stroke is a late-onset, complex polygenic disease, and it has proven difficult to identify its genetic determinants. A new study from Iceland shows that the gene encoding phosphodiesterase 4D is the most likely positional and pathophysiological candidate underlying the stroke susceptibility locus on chromosome 5q12.
Groups of interacting proteins define functional modules that govern a cell's activity. A new study suggests that specific interaction motifs and their constituents are highly conserved across species, identifying potential functional modules used in the evolutionary process.
Biochemical purification has identified a new component of the Fanconi anemia complex. The protein has ubiquitin ligase activity and may be the long-sought enzyme responsible for monoubiquitination of FANCD2.
The visual pigment rhodopsin consists of the apoprotein opsin and the retinoid chromophore 11-cis-retinal. Visual signaling is triggered upon photoisomerization of 11-cis-retinal into all-trans-retinal. A new study shows that visual signaling by opsin in the absence of chromophore is a pathogenetic mechanism of visual cell loss.