Working on Mutations

Mutation has been essential to Mendelism at every step, not only as the source of heritable variations-round peas or wrinkled, vermillion eyes or the wild type, rough plaque or smooth-but as a tool for understanding. -Horace Freeland Judson, The Eighth Day of Creation 

The science of genetics developed historically along two quasi-independent lines of research (Wallace and Falkinham 1997 1). One was concerned with identifying the factors of Mendelian inheritance. It asked, where and what is the gene The second was concerned with the processes of inheritance. It asked, 

Neither Drosophila s laboratory domestication nor its consequent status as geneticists experimental organism-of-choice during the first half of the twentieth century was automatic. While the natural qualities of both Drosophila and university zoologists initially drew them together in what Kohler (1994 19) describes as a relationship of symbiosis, the fame of both required further 

The groundbreaking work that opened the field of radiation genetics appeared in two papers made public in the summer of 1927. H. J. Muller, then a professor of genetics at the University of Texas and a former member of Morgan s fly room at Columbia, authored the papers. The first article, published in Science in July, announced Muller s discovery of x-ray-induced mutagenesis. The article was short on evidence but long on claims, among them the observation that 

Beyond its social and political significance, as a new tool for genetic research x-ray mutagenesis also had several important practical implications 

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We have enumerated proton transfer pathways from the external solution to the two carbonyl oxygens on the quinones. The pathways appear to form a network in which many pathways converge on a few key residues in the vicinity of the quinone. For the protonation of the distal oxygen, Asp L213 appears crucial, although there is experimental evidence that RCs without an aspartic acid at this position can compensate for its absence by a mutation at another position. For the protonation of the proximal oxygen, Glu L212 plays an important role, as shown by both the present computational study of pathways and by experimental work on mutated RCs. ... 

The validity of pharmacophore models that overlay the classical can-nabinoids and AAIs has been brought into question by recent mutation work on the CBi receptor. It was found that mutation of Lys-192 in the third... 

A natural progression from using CA to model bacterial growth is to model tumor growth and the development of abnormal cells. There has been considerable work on this topic. Features such as cell mutation, adhesion, layered growth, and chemotaxis can readily be incorporated into a CA model.5 Deutsch and Dormann s book provides a useful introduction to this area.6... 

Further work on ADH may identify the molecular mechanisms underlying the brain calcification and tonic-clonic seizures associated with the CASR-activating mutations. This information may refine therapy for ADH patients as well as hypoparathyroidism patients who harbor CASR mutations. Further details about ADH can be found in the CASR locus-specific database at http //www.casrdb. mcgill.ca/f4/). 

This chapter will review some of the key applications presented by protein microarrays. The use of profein microarrays sfems from works on gene expression arrays described earlier. However, rmlike ifs predecessors whose process formats (mutation detection, polymorphism screening, gene expression analysis, etc.) are essentially based upon solid-phase hybridization of nucleic acid complementary strands, the protein array may play different roles and comprise a variety of formafs. 

Fig. 4 Schematic section through the small ribosomal subunit of yeast (gray) exposing the decoding region. The model is based on structural work on the prokaryotic small ribosomal subunit. The homologous proteins of the E. coli decoding region are S4, S5, and S12 (Ogle et al. 2003). Movements within the small ribosomal subunit upon cognate tRNA binding (domain closure) are denoted by red arrows. Mutations in...

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