排序方式: 共有5条查询结果,搜索用时 15 毫秒
1
1.
2.
Patterson EE Minor KM Tchernatynskaia AV Taylor SM Shelton GD Ekenstedt KJ Mickelson JR 《Nature genetics》2008,40(10):1235-1239
Labrador retrievers are the most common dog breed in the world, with over 200,000 new kennel club registrations per year. The syndrome of exercise-induced collapse (EIC) in this breed is manifested by muscle weakness, incoordination and life-threatening collapse after intense exercise. Using a genome-wide microsatellite marker scan for linkage in pedigrees, we mapped the EIC locus to canine chromosome 9. We then used SNP association and haplotype analysis to fine map the locus, and identified a mutation in the dynamin 1 gene (DNM1) that causes an R256L substitution in a highly conserved region of the protein. This first documented mammalian DNM1 mutation is present at a high frequency in the breed and is a compelling candidate causal mutation for EIC, as the dynamin 1 protein has an essential role in neurotransmission and synaptic vesicle endocytosis. 相似文献
3.
LS Andersson M Larhammar F Memic H Wootz D Schwochow CJ Rubin K Patra T Arnason L Wellbring G Hjälm F Imsland JL Petersen ME McCue JR Mickelson G Cothran N Ahituv L Roepstorff S Mikko A Vallstedt G Lindgren L Andersson K Kullander 《Nature》2012,488(7413):642-646
Locomotion in mammals relies on a central pattern-generating circuitry of spinal interneurons established during development that coordinates limb movement. These networks produce left-right alternation of limbs as well as coordinated activation of flexor and extensor muscles. Here we show that a premature stop codon in the DMRT3 gene has a major effect on the pattern of locomotion in horses. The mutation is permissive for the ability to perform alternate gaits and has a favourable effect on harness racing performance. Examination of wild-type and Dmrt3-null mice demonstrates that Dmrt3 is expressed in the dI6 subdivision of spinal cord neurons, takes part in neuronal specification within this subdivision, and is critical for the normal development of a coordinated locomotor network controlling limb movements. Our discovery positions Dmrt3 in a pivotal role for configuring the spinal circuits controlling stride in vertebrates. The DMRT3 mutation has had a major effect on the diversification of the domestic horse, as the altered gait characteristics of a number of breeds apparently require this mutation. 相似文献
4.
Cosmogenic ^10Be dating of Guxiang and Baiyu Glaciations 总被引:4,自引:0,他引:4
ZHOU ShangZhe XU LiuBing PATRICK M. Colgan DAVID M. Mickelson WANG XiaoLi WANG Jie ZHONG Wei 《科学通报(英文版)》2007,52(10):1387-1393
Guxiang and Baiyu Glaciations are two previously recognized local glaciations of the Tibetan Plateau. They have been widely used as the reference standard for classifying Late Quaternary glaciations on the Tibetan Plateau and its surrounding mountains. However, the numerical chronologies of both glaciations have been lacking. In this study, cosmogenic They dating was undertaken to define the timing of these two glaciations. The surface boulders deposited by the glaciers of the Guxiang and Baiyu Glaciations have exposure ages of 112.9±16.7-136.5±15.8 ka BP and 11.1±1.9-18.5±2.2 ka BP, respectively. It is likely that the Guxiang and Baiyu Glaciations correspond to marine isotope stages 6 and 2, respectively. 相似文献
5.
1