%0 Journal Article
%T Research Highlights
%A Robert I Scheinman
%J Human Genomics
%D 2011
%I BioMed Central
%R 10.1186/1479-7364-5-2-76
%X Tanabe, K. et al. (2010), 'Plasmodium falciparum accompanied the human expansion out of Africa', Curr. Biol. Vol. 20, pp. 1283-1289.Anticoagulation therapies, such as coumarin, provide protection from stroke but getting the dose right is tricky. The new patient undergoes a timeconsuming iterative process of dosage and clotting tests. Unfortunately, the variation in optimum dosage for different individuals is great, necessitating a great deal of testing. For this reason, the work of Verde and colleagues is of both genetic and clinical interest. They examined the two major genes associated with variation in the response to anticoagulation therapy, CYP2C9 and VKORC1. They assessed the combined influence of the major variant alleles of these genes using a 'total genotype score' methodology and generated an algorithm. The results for this small test population were quite satisfying; genotype scores correlated well with the appropriate dosages. Now we must await a study in a larger population to see if the algorithm continues to predict optimal dosages.Verde, Z. et al. (2010), 'A novel, single algorithm approach to predict acenocoumarol dose based on CYP2C9 and VKORC1 allele variants', PLoS One Vol. 5, p. e11210.How can we be as complex as we are with only 20,000 genes? Two partial answers to this question include alternative splicing and RNA editing. RNA editing involves the conversion of adenosine to inosine via the enzyme adenosine deaminase acting on RNA (ADAR). It occurs at thousands of sites and in all tissues examined. Most occur in non-coding Alu elements but there are still quite a few that can be found in coding regions. RNA editing is increased in brain tissues and ADAR appears to be essential for organismal viability, at least in mice. In this report, Osenberg and coworkers have extended these mouse studies to human embryonic stem cells (hESCs) and watched how RNA editing rates change as these cells differentiate. They found that as hESCs differentiate into ne
%U http://www.humgenomics.com/content/5/2/76