Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases.     

线粒体时钟需要校准

线粒体DNA出现突变比预期快的结论，推动了新的法医学程序，却增加了有关进化事件断代的困难。leql年俄罗斯人挖掘出并检验了西伯利亚一座葬有9具骨殖的坟墓。有人认为那是俄罗斯本代沙皇尼古拉二世和家人及待从的遗骸，他们是1918年被行刑队枪杀的。但是有两人失踪，所以没有人能完全确认遗骸身份。lop年做了DNA试验--期望能够较快地得到结论--使之不再增加新的难解之秘。沙皇线粒体的一些DNA一细胞内的细胞器都有自己的DNA与他还活着的亲属们的DNA并不十分相符。法医学专家们认为大多数人只有一种线粒体DNA（mtDNA），但是沙皇却…     

The N-terminal amino acid sequence of the small subunit of ribulose-1,5-diphosphate carboxylase fromNicotiana tabacum

Summary The N-terminal sequence of the small subunit of Fraction I protein isolated from tobacco was investigated, using an automatic protein sequencer. The amino acid sequence of the first 21 residues is presented.     

Multiple nucleotide-binding sites in the sequence of dynein beta heavy chain.

Axonemal dyneins have two or three globular heads joined by flexible tails to a common base, with each head/tail unit consisting of a single heavy-chain polypeptide of relative molecular mass greater than 400,000. The sizes of the components have been deduced by electron microscopy. The isolated beta heavy chain of sea urchin sperm flagella, which is immunologically identical to that of the embryo cilia, is of particular interest as it retains the capability for microtubule translocation in vitro. Limited proteolysis of the beta heavy chain divides it into two fragments, A and B, which sediment separately at 12S and 6S, and possibly correspond to the head and tail domains of the molecule. Dynein ATPase is the energy-transducing enzyme that generates the sliding movement between tubules that underlies the beating of cilia and flagella of eukaryotes, and possibly also other large intracellular movements. Here we report that the deduced amino-acid sequence of the beta heavy chain of axonemal dynein from embryos of the sea urchin Tripneustes gratilla has 4,466 residues and contains the consensus motifs for five nucleotide-binding sites. The probable hydrolytic ATP-binding site can be identified by its location close to or at the V1 site of vanadate-mediated photo-cleavage. The general features of the map of photocleavage and proteolytic peptides reported earlier have been confirmed, except that the map's polarity is reversed. The predicted secondary structure of the beta heavy chain consists of an alpha/beta-type pattern along its whole length. The two longest regions of potential alpha helix, with unbroken heptad hydrophobic repeats 120 and 50 amino acids long, may be of functional importance. But dynein does not seem to contain an extended coiled-coil tail domain.     

哪些基因造就了人类

数十年前科学家就已经知道，人类基因至少有98％和黑猩猩完全相同……现在才开始探寻使人类从猿类中分离出来的究竟是哪些基因。人总喜欢认为自己是特殊的。因为人类具有交谈、书写和建筑复杂构造的能力，从而把自己从动物王国中分开来，并且形成精神上的差别。但是，将其归结到基因时，人类又和黑猩猩的两个物种极其相似，以至于生理学家贾里德·戴蒙德（JaredDiamond）称我们人类是“第三个黑猩猩物种”。经过了四分之一世纪的研究工作，可以肯定地确认人类和黑猩猩的任何基因组区，至少有98．5％的DNA是相同的。这就意味着只有很少一部…