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311.
MacArthur DG Seto JT Raftery JM Quinlan KG Huttley GA Hook JW Lemckert FA Kee AJ Edwards MR Berman Y Hardeman EC Gunning PW Easteal S Yang N North KN 《Nature genetics》2007,39(10):1261-1265
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
312.
Liu F Thirumangalathu S Gallant NM Yang SH Stoick-Cooper CL Reddy ST Andl T Taketo MM Dlugosz AA Moon RT Barlow LA Millar SE 《Nature genetics》2007,39(1):106-112
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
313.
Nodal signals pattern vertebrate embryos 总被引:4,自引:0,他引:4
Vertebrate embryonic patterning requires several conserved inductive signals–including Nodal, Bmp, Wnt and Fgf signals. Nodal,
which is a member of the transforming growth factor β (TGFβ) superfamily, activates a signal transduction pathway that is
similar to that of other TGFβ members. Nodal genes, which have been identified in numerous vertebrate species, are expressed
in specific cell types and tissues during embryonic development. Nodal signal transduction has been shown to play a pivotal
role in inducing and patterning mesoderm and endoderm, and in regulating neurogenesis and left-right axis asymmetry. Antagonists,
which act at different steps in the Nodal signal transduction pathway, have been shown to tightly modulate the inductive activity
of Nodal.
Received 20 October 2005; received after revision 15 November 2005; accepted 25 November 2005 相似文献
314.
Bosch-Comas A Lindsten K Gonzàlez-Duarte R Masucci MG Marfany G 《Cellular and molecular life sciences : CMLS》2006,63(6):723-734
The biological functions of the more than one hundred genes coding for deubiquitinating enzymes in the human genome remain
mostly unknown. The USP25 gene, located at 21q11.2, encodes three protein isoforms produced by alternative splicing. While
two of the isoforms are expressed nearly ubiquituously, the expression of the longer USP25 isoform (USP25m) is restricted
to muscular tissues and is upregulated during myogenesis. USP25m interacts with three sarcomeric proteins: actin alpha-1 (ACTA1),
filamin C (FLNC), and myosin binding protein C1 (MyBPC1), which are critically involved in muscle differentiation and maintenance,
and have been implicated in the pathogenesis of severe myopathies. Biochemical analyses demonstrated that MyBPC1 is a short-lived
proteasomal substrate, and its degradation is prevented by over-expression of USP25m but not by other USP25 isoforms. In contrast,
ACTA1 and FLNC appear to be stable proteins, indicating that their interaction with USP25m is not related to their turnover
rate.
Received 7 November 2005; received after revision 7 January 2006; accepted 13 January 2006 相似文献
315.
A Cuevas-Sosa 《Nature》1968,218(5146):1059-1061
316.
Conclusion The optimum wavelength of Nd3+-doped double-clad fiber laser or amplifier made in China is near 830 nm. The efficiency of Nd3+-doped double-clad fiber devices pumped by 820-nm laser is low due to ESA. In order to increase the photochemical stability
of the outer cladding, the material of the outer cladding must be advanced. 相似文献
317.
为了能够快速准确的评定预应力管道的灌浆质量,采用IES(Impact-Echo System)扫描式冲击回波测试系统,对阿荣旗至北海省际通道支线赤峰-大板高速公路预应力箱梁管道灌浆施工质量进行评估。结果表明采用该种方法能够较好地评定预应力管道灌浆质量,对质量不合格的部位作出及时处理,以保证结构安全。 相似文献
318.
图的笛卡尔积图的结构及其完美性(英文) 总被引:1,自引:1,他引:0
目的研究笛卡尔积图的完美性.方法利用图的笛卡尔积刻画了扩容图.结果与结论得到任意图与其线图的笛卡尔积与扩容图的密切关系,证明了完全扩容图的完美性。 相似文献
319.
利用大型通用软件ANSYS,以国道319线苏家坡桥为例阐述基于动力的加固前后石拱桥有限元模型建立及模型修正的过程.首先介绍加固前后苏家坡桥的环境振动试验与模态参数识别,然后介绍加固前的石拱桥有限元建模及基于动力的模型修正过程,最后介绍加固后该桥的有限元模型修正.结果表明,加固前后的有限元模型计算和实测动力特性能够吻合良好,所建立的有限元模型可以用于桥梁的静动力计算. 相似文献
320.