This paper describes the data release of the LAMOST pilot survey, which includes data reduction, calibration, spectral analysis, data products and data access. The accuracy of the released data and the information about the FITS headers of spectra are also introduced. The released data set includes 319 000 spectra and a catalog of these objects.

Mutations that affect the balance between the synthesis of eumelanin and pheomelanin provide a powerful set of tools with which to understand general aspects of cell signaling. Previous work from our laboratory has demonstrated that pheomelanin synthesis is triggered by the ability of Agouti protein to inhibit signaling through the Melanocortin 1 receptor (Mc1r). In a bioassay based on the Xenopus Mc1r, Agouti protein has two effects, competitive inhibition of receptor occupancy by alpha-MSH and down-regulation of receptor signaling, which are mediated separately by domains in the amino- and carboxy-terminal regions of Agouti protein, respectively. Recently, we have used the genetics of pigmentation as an in vivo system to screen for and analyze other mutations in the Agouti-melanocortin pathway. The pigmentary effects of Agouti are suppressed by the previously existing coat-color mutations mahogany (mg), mahoganoid (md), and Umbrous (U). Double mutant studies, with animals deficient for the Mc1r or those which carry Ay, indicate that mg and md are genetically upstream of the Mc1r, and can suppress the effects of Ay on both pigmentation and body weight. Positional cloning has recently identified the gene mutated in mahogany as a single transmembrane-spanning protein whose ectodomain is orthologous to human Attractin (Atrn).

Rare diseases can severely impact patient life quality as well as impose a serious burden on society. But research and development for drugs to treat these disorders has stagnated because of lack of demand, insufficient knowledge of pathophysiological mechanisms, and too few patients for clinical trials. In several countries--the United States, the EU, and Japan--specific legislation has been enacted to encourage pharmaceutical companies to expedite the development of drugs for rare diseases, orphan drugs, and to assure access to them. We analyze the strengths and weaknesses of the incentives in these laws and describe the status of rare diseases in China. We offer some recommendations for orphan drug legislation in China, based on local research on rare diseases.

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