Genome-wide association analysis identifies 20 loci that influence adult height

Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. We identified 20 variants associated with adult height (P < 5 x 10(-7), with 10 reaching P < 1 x 10(-10)). Combined, the 20 SNPs explain approximately 3% of height variation, with a approximately 5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. The loci we identified implicate genes in Hedgehog signaling (IHH, HHIP, PTCH1), extracellular matrix (EFEMP1, ADAMTSL3, ACAN) and cancer (CDK6, HMGA2, DLEU7) pathways, and provide new insights into human growth and developmental processes. Finally, our results provide insights into the genetic architecture of a classic quantitative trait.     

Primitive deuterostomes from the Chengjiang Lagerst?tte (Lower Cambrian, China).

Cambrian fossil-Lagerst?tten (sites of exceptional fossil preservation), such as those from Chengjiang (Lower Cambrian) and the Burgess Shale (Middle Cambrian), provide our best window into the Cambrian 'explosion'. Such faunas are known from about 40 localities, and have yielded a widely disparate series of taxa ranging from ctenophores to agnathan fish. Recent excavations of the Chengjiang fossil-Lagerst?tte, known from a series of sites near Kunming in Yunnan, south China, have resulted in the discovery of several new forms. In conjunction with material described earlier, these provide evidence for a new group of metazoans, the vetulicolians. Several features, notably a series of gill slits, suggest that this group can throw light on an early stage of deuterostome diversification.     

Data Filtering and Statistical Process Modeling

AnewfilteringmethodwhichextendstheSureShrinkalgorithmispresentedinthispaper.Sincethedatafromplantsalwayscontainsomepeaknoise,thenormaldenoisealgorithmssuchasSureShrinkcannotalwaysachievegoodresults.WiththePeakCutalgorithm,thepeaknoisecanbesignificantlyeliminatedandgoodsmoothingcanbeobtainedusingtheSureShrinkalgorithm.InthispaperaProjectiontoLatentStructures(PLS)modelisestablishedaftertheprocessdataarefirstfilteredusingthePeakCutandSureShrinkalgorithms.DistributedControlSystems(DCS)an…     

Direct access to serum macromolecules by intraerythrocytic malaria parasites.

Trafficking pathways in malaria-infected erythrocytes are complex because the internal parasite is separated from the serum by the erythrocyte and parasitophorous vacuolar membranes. Intraerythrocytic Plasmodium falciparum parasites can endocytose dextrans, protein A and an IgG2a antibody. Here we show that these macromolecules do not cross the erythrocyte or parasitophorous vacuolar membranes, but rather gain direct access to the aqueous space surrounding the parasite through a parasitophorous duct. Evidence for this structure includes visualization of membranes that are continuous between the parasitophorous vacuolar and erythrocyte membranes, and surface labelling of the parasite with fluorescent macromolecules under conditions that block endocytosis. The parasite can internalize by fluid-phase endocytosis macromolecules from the aqueous compartment surrounding it. Thus, surface antigens on trophozoites and schizonts should be considered as targets for antibody-directed parasiticidal agents.     

Biomolecular structure determination by mass spectrometry

Mass spectometry, conventionally used with smallish molecules (less than 1,000 daltons), has suprisingly emerged as a powerful technique for the determination of the amino acid sequences of proteins and the structure of glycopeptides as well as for the characterization of biologically active materials of unusual structure such as the peptidolipids. Further applications to biomedical problems are foreseen.