Bochukova EG, Huang N, Keogh J, et al. (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature. (463) 666-670.
In this paper, Bochukova et al. identify several rare copy number variants recurrent in obese people but absent, or at much lower prevalence, in controls. Five patients had overlapping deletions on chromosome 16p11.2. Those deletions were also found in two of 7,366 controls. In three patients, the deletion co-segregated with severe obesity. All 16p11.2 deletions encompass several genes but include SH2B1, which is known to be involved in leptin and insulin signaling. Deletion carriers exhibited hyperphagia and severe insulin resistance disproportionate to the degree of obesity. Copy number variation contributes to the genetic architecture of obesity, the authors conclude.
Type 2 Diabetes
Maeda S, Kobayashi M, Araki S, Babazono T, et al. (2010). A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. PLoS Genetics. 6(2): e1000842.
This paper describes a large-scale association study of 1,312 Japanese people with type 2 diabetes using SNPs from a Japanese database. From it, the authors found that the T-allele of ACACB rs2268388 is -associated with diabetic nephropathy. The authors also show that the association is consistently observed in patients with type 2 diabetes and proteinuria across different ethnic groups, including populations of European descent. Diabetic nephropathy is a leading cause of end-stage renal disease and affects life expectancy in people with type 2 diabetes.
Single Amino Acid Repeats
Haerty W, Golding GB. Genome-wide evidence for selection acting on single amino acid repeats. (2010). Genome Research. (20) 2.
In this paper, Haerty and Golding describe a test that evaluates the effect of splicing on the structure of homo-polymer sequences in relation to the splicing pattern in which they are found. They report observing a significant relationship between alternative splicing and homopolymer sequences with alternatively spliced genes being enriched in number and length. In addition, the authors observed lower codon diversity and longer homocodons, which they argue suggests a balance between slippage and point mutations linked to the constraints imposed by selection.
Assay for MRSA and MSSA
Muson E, Kramme T, Culver A, Hryciuk JE, and Schell RF. (2010). Cost-effective modification of a commercial PCR assay for detection of methicillin-resistant/susceptible staphylococcus aureus from positive blood cultures. Journal of Clinical Micro-biology. doi:10.1128/JCM.02463-0.
In this paper, Muson and his colleagues address the inherent expense of molecular diagnostics that may prevent laboratories from utilizing real-time PCR to detect methicillin-resistant Staphylococcus aureus and methicillin-susceptible S. aureus in clinical bacteremia. The authors describe how they modified a commercial RT-PCR assay and reduced their reagent expenditures by roughly 20 percent. They suggest that clinical diagnostic laboratories use RT-PCR to detect MRSA and MSSA.