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Prompted by the identification of the gene that is mutated in the last assigned Fanconi anaemia (FA) complementation group, the author discusses the growing evidence that FA proteins function as signal transducers and DNA-processing molecules in a DNA-damage response network, which consists of many proteins that maintain genome integrity.
Mutations that disrupt the splicing code, or the machinery required for splicing and its regulation, have roles in a range of diseases. It is also becoming apparent that genetic variation that affects splicing efficiency significantly contributes to disease severity and susceptibility.
Gene conversion — the unidirectional transfer of information between highly homologous sequences — influences genome evolution and is the cause of several human inherited disorders. This article reviews our understanding of the mechanism of gene conversion, and its consequences for human health.
Recent findings suggest that RNA-based elements such as ribozymes and RNA sensors have a widespread role in gene expression regulation. Studies of these RNAs provide insights into mechanisms of gene expression control and the evolution of cellular functions from RNA-based origins.
Defects in kidney development can cause a wide range of disease phenotypes, from obvious renal abnormalities and Wilms tumour to hypertension and cardiovascular disease. A detailed understanding of the developmental genetics of the kidney is key to combating these diseases.
To what extent is the architecture of genetic networks the product of natural selection? A population-genetic analysis of such networks shows that many of their features can arise through the neutral processes of genetic drift, mutation and recombination.
It is a common complaint that science journalists misrepresent genetics stories. The blame probably lies as much with geneticists themselves as with the reporters, and this article provides guidelines for getting the message across to journalists accurately.
