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561.
Humphray SJ Oliver K Hunt AR Plumb RW Loveland JE Howe KL Andrews TD Searle S Hunt SE Scott CE Jones MC Ainscough R Almeida JP Ambrose KD Ashwell RI Babbage AK Babbage S Bagguley CL Bailey J Banerjee R Barker DJ Barlow KF Bates K Beasley H Beasley O Bird CP Bray-Allen S Brown AJ Brown JY Burford D Burrill W Burton J Carder C Carter NP Chapman JC Chen Y Clarke G Clark SY Clee CM Clegg S Collier RE Corby N Crosier M Cummings AT Davies J Dhami P Dunn M Dutta I Dyer LW Earthrowl ME Faulkner L 《Nature》2004,429(6990):369-374
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection. 相似文献
562.
This article sets out the proposed design for a 2011 Census in England and Wales, as part of the ONS's proposed future population statistics system. The design draws on experiences from the 2001 Census and changes in available technology, and takes account of the many comments received from respondents to a Discussion Paper published in October 2003 and of views expressed at a joint ONS/RSS Conference on 11-12 November 2003. The article highlights the statistical and operational strategic aims for the 2011 Census, the major changes proposed from the 2001 approach, and gives an indication of the benefits and risks. It is important to note that this design remains a proposal at present, the elements of which will be subject to further research building on comments received during consultation and a detailed testing programme over the coming years. 相似文献
563.
Fridmann J Wiedenhöver I Gade A Baby LT Bazin D Brown BA Campbell CM Cook JM Cottle PD Diffenderfer E Dinca DC Glasmacher T Hansen PG Kemper KW Lecouey JL Mueller WF Olliver H Rodriguez-Vieitez E Terry JR Tostevin JA Yoneda K 《Nature》2005,435(7044):922-924
Nuclear shell structures--the distribution of the quantum states of individual protons and neutrons--provide one of our most important guides for understanding the stability of atomic nuclei. Nuclei with 'magic numbers' of protons and/or neutrons (corresponding to closed shells of strongly bound nucleons) are particularly stable. Whether the major shell closures and magic numbers change in very neutron-rich nuclei (potentially causing shape deformations) is a fundamental, and at present open, question. A unique opportunity to study these shell effects is offered by the 42Si nucleus, which has 28 neutrons--a magic number in stable nuclei--and 14 protons. This nucleus has a 12-neutron excess over the heaviest stable silicon nuclide, and has only one neutron fewer than the heaviest silicon nuclide observed so far. Here we report measurements of 42Si and two neighbouring nuclei using a technique involving one- and two-nucleon knockout from beams of exotic nuclei. We present strong evidence for a well-developed proton subshell closure at Z = 14 (14 protons), the near degeneracy of two different (s(1/2) and d(3/2)) proton orbits in the vicinity of 42Si, and a nearly spherical shape for 42Si. 相似文献
564.
565.
We have obtained evidence that poliovirus and other picornavirus particles are specifically modified by having myristic acid covalently bound to a capsid protein. The electron density map of poliovirus confirms the position of the myristate molecule and defines its location in the virus particle. Analogies with other myristylated proteins suggest that the myristate moiety in picornaviruses may be involved in capsid assembly or in the entry of virus into cells. 相似文献
566.
One surprising outcome of applying the techniques of protein engineering to the enzyme tyrosyl-transfer RNA synthetase was that the enzyme's activity could actually be increased by a specific sequence change. In particular, altering residue threonine 51 to a proline (mutant TP51) increased the enzyme's affinity for tyrosyl adenylate complexes. The non-additive effect of combining the TP51 mutation with a second sequence alteration (histidine 48 to a glycine) suggested that the effect of the TP51 change might be mediated by a structural change involving the peptide backbone. To address the question of the mechanism by which the TP51 change increases the activity of tyrosyl-tRNA synthetase we have determined the structure of the mutant enzyme. We find the change has a purely local effect on the structure of the enzyme, and conclude that the increased activity of the TP51 mutant probably results from the replacement of the polar threonine residue by a non-polar group: in the wild-type enzyme substrate binding is disfavoured by the displacement of solvent from the vicinity of threonine 51. This unfavourable effect is absent in the TP51 mutant. 相似文献
567.
A decision-analytic approach is taken to the problem of assessing the economic value of imperfect weather forecasts. Emphasis is placed on measures of the quality of such information and on the relationship between quality and economic value. The fallowing/planting problem for a spring wheat farmer is examined in detail as a specific application. It is assumed that the farmer's goal is to maximize the total expected discounted return over an infinite horizon, which places this problem within the general framework of Markov decision processes. By means of stochastic dynamic programming, the economic value to the farmer of currently available seasonal precipitation forecasts, as well as of hypothetical improvements in the quality of such forecasts, is estimated. Because the relationship between the quality and value of forecasts is highly nonlinear, the need to explicitly determine value-of-information estimates, rather than relying on quality as a surrogate for value, is made clear. 相似文献
568.
Mutant dynactin in motor neuron disease 总被引:24,自引:0,他引:24
Puls I Jonnakuty C LaMonte BH Holzbaur EL Tokito M Mann E Floeter MK Bidus K Drayna D Oh SJ Brown RH Ludlow CL Fischbeck KH 《Nature genetics》2003,33(4):455-456
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 Mb at chromosome 2p13. Mutation analysis of a gene in this interval that encodes the largest subunit of the axonal transport protein dynactin showed a single base-pair change resulting in an amino-acid substitution that is predicted to distort the folding of dynactin's microtubule-binding domain. Binding assays show decreased binding of the mutant protein to microtubules. Our results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease. 相似文献
569.
570.
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes 总被引:2,自引:0,他引:2
Skaletsky H Kuroda-Kawaguchi T Minx PJ Cordum HS Hillier L Brown LG Repping S Pyntikova T Ali J Bieri T Chinwalla A Delehaunty A Delehaunty K Du H Fewell G Fulton L Fulton R Graves T Hou SF Latrielle P Leonard S Mardis E Maupin R McPherson J Miner T Nash W Nguyen C Ozersky P Pepin K Rock S Rohlfing T Scott K Schultz B Strong C Tin-Wollam A Yang SP Waterston RH Wilson RK Rozen S Page DC 《Nature》2003,423(6942):825-837