Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The effect of elevated carbon dioxide on carbon-based and nitrogen-based chemical defenses in Brassica nigra: physiological and evolutionary responses.

Steadily increasing global atmospheric CO2 levels have been shown to affect important plant traits including growth and secondary (defensive) chemistry. This study used 10 maternal families of wild mustard, Brassica nigra, to investigate 1) whether levels of carbon-based defenses (phenolics) increase and nitrogen-based defenses (protease inhibitors) decrease in Brassica nigra under elevated CO2, as predicted by the Carbon/Nutrient Balance Hypothesis; 2) whether B. nigra encounters nitrogen-based trade-offs between investment in chymotrypsin and trypsin inhibitors, or between investment in these chemical defenses and growth; 3) if so, whether trade-offs are more severe under elevated CO2; 4) whether elevated CO2 will affect the evolutionary potential of carbon-based and nitrogen-based chemical defenses. Our results suggest that total biomass of Brassica nigra will increase under elevated CO2. In contrast to the predictions of the CNB Hypothesis, there was no evidence that levels of carbon-based defenses will increase or levels of nitrogen-based defenses will decrease in the future under elevated CO2. Our results also indicated that, in general, this population of Brassica nigra does not encounter trade-offs between nitrogen-intensive traits, and that trade-offs will not become more severe as atmospheric CO2 continues to rise. There was some evidence that elevated CO2 may increase the evolutionary potential of at least two traits within this mustard population, since a) families differed in phenology only when grown under elevated CO2, and b) growth under elevated CO2 also resulted in much more pronounced among-family differences in phenolic content.http://deepblue.lib.umich.edu/bitstream/2027.42/54848/1/3289.pdfDescription of 3289.pdf : Access restricted to on-site users at the U-M Biological Station

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

The gene for Huntington disease, a neurodegenerative disorder with autosomal dominant inheritance, has been localized to the terminal portion of the short arm of human chromosome 4 (4p16.3) by linkage analysis. Since eventual isolation of the gene requires the application of high-resolution genetic analysis coupled with long-range DNA mapping and cloning techniques, we have constructed a physical map of the chromosomal region 4p16.3 using more than 20 independently derived probes. We have grouped these markers into three clusters which have been ordered and oriented by genetic and somatic cell genetic mapping information. The mapped region extends from D4S10 (G8) toward the telomere and covers minimally 5 Mb.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/28761/3/0000591.pd