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81.
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associated with elite athlete status and human muscle performance, suggesting that alpha-actinin-3 deficiency influences the function of fast muscle fibers. Here we show that loss of alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance. In addition, we demonstrate that the genomic region surrounding the 577X null allele shows low levels of genetic variation and recombination in individuals of European and East Asian descent, consistent with strong, recent positive selection. We propose that the 577X allele has been positively selected in some human populations owing to its effect on skeletal muscle metabolism.  相似文献   
82.
On the design and analysis of gene expression studies in human populations   总被引:2,自引:0,他引:2  
Akey JM  Biswas S  Leek JT  Storey JD 《Nature genetics》2007,39(7):807-8; author reply 808-9
  相似文献   
83.
Fungiform taste papillae form a regular array on the dorsal tongue. Taste buds arise from papilla epithelium and, unusually for epithelial derivatives, synapse with neurons, release neurotransmitters and generate receptor and action potentials. Despite the importance of taste as one of our five senses, genetic analyses of taste papilla and bud development are lacking. We demonstrate that Wnt-beta-catenin signaling is activated in developing fungiform placodes and taste bud cells. A dominant stabilizing mutation of epithelial beta-catenin causes massive overproduction of enlarged fungiform papillae and taste buds. Likewise, genetic deletion of epithelial beta-catenin or inhibition of Wnt-beta-catenin signaling by ectopic dickkopf1 (Dkk1) blocks initiation of fungiform papilla morphogenesis. Ectopic papillae are innervated in the stabilizing beta-catenin mutant, whereas ectopic Dkk1 causes absence of lingual epithelial innervation. Thus, Wnt-beta-catenin signaling is critical for fungiform papilla and taste bud development. Altered regulation of this pathway may underlie evolutionary changes in taste papilla patterning.  相似文献   
84.
Supercoiled DNA folded by non-histone proteins in cultured mammalian cells.   总被引:2,自引:0,他引:2  
T Ide  M Nakane  K Anzai  T Ando 《Nature》1975,258(5534):445-447
  相似文献   
85.
An aerodynamic sense organ stimulating and regulating flight in locusts   总被引:2,自引:0,他引:2  
WEIS-FOGH T 《Nature》1949,164(4177):873
  相似文献   
86.
在乱堆θ环不锈钢填料的自制填料塔中,使用单乙醇胺(MEA)作为吸收剂,研究MEA脱除CO2的去除率和总体积传质系数KGav,考察了贫液中CO2负载量、吸收剂浓度、液体流量、吸收温度等不同参数对总体积传质系数的影响.实验结果表明,KGav随贫液中CO2负载量的增大而减小,随吸收剂浓度、液体流量的增大而增大;且进料温度在3...  相似文献   
87.
BOOK REVIEWS     
Rethinking the Fifth Discipline: Learning Within the Unknowable by Robert Louis Flood. Sami Potatoes: Living with Reindeer and Perestroika by Michael Robinson and Karim-Aly Kassam. The Self Managing Organization: How Leading Companies Are Transforming the Work of Teams for Real Impact by Ronald E. Purser and Steven Cabana.  相似文献   
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90.
Programmable and autonomous computing machine made of biomolecules.   总被引:42,自引:0,他引:42  
Y Benenson  T Paz-Elizur  R Adar  E Keinan  Z Livneh  E Shapiro 《Nature》2001,414(6862):430-434
Devices that convert information from one form into another according to a definite procedure are known as automata. One such hypothetical device is the universal Turing machine, which stimulated work leading to the development of modern computers. The Turing machine and its special cases, including finite automata, operate by scanning a data tape, whose striking analogy to information-encoding biopolymers inspired several designs for molecular DNA computers. Laboratory-scale computing using DNA and human-assisted protocols has been demonstrated, but the realization of computing devices operating autonomously on the molecular scale remains rare. Here we describe a programmable finite automaton comprising DNA and DNA-manipulating enzymes that solves computational problems autonomously. The automaton's hardware consists of a restriction nuclease and ligase, the software and input are encoded by double-stranded DNA, and programming amounts to choosing appropriate software molecules. Upon mixing solutions containing these components, the automaton processes the input molecule via a cascade of restriction, hybridization and ligation cycles, producing a detectable output molecule that encodes the automaton's final state, and thus the computational result. In our implementation 1012 automata sharing the same software run independently and in parallel on inputs (which could, in principle, be distinct) in 120 microl solution at room temperature at a combined rate of 109 transitions per second with a transition fidelity greater than 99.8%, consuming less than 10-10 W.  相似文献   
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