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排序方式: 共有491条查询结果,搜索用时 31 毫秒
291.
Jones C Roper VC Foucher I Qian D Banizs B Petit C Yoder BK Chen P 《Nature genetics》2008,40(1):69-77
Planar cell polarity (PCP) refers to coordinated polarization of cells within the plane of a cell sheet. A conserved signaling pathway is required for the establishment of PCP in epithelial tissues and for polarized cellular rearrangements known as convergent extension. During PCP signaling, core PCP proteins are sorted asymmetrically along the polarization axis; this sorting is thought to direct coordinated downstream morphogenetic changes across the entire tissue. Here, we show that a gene encoding a ciliary protein (a 'ciliary gene'), Ift88, also known as Polaris, is required for establishing epithelial PCP and for convergent extension of the cochlear duct of Mus musculus. We also show that the proper positioning of ciliary basal bodies and the formation of polarized cellular structures are disrupted in mice with mutant ciliary proteins ('ciliary mutants'), whereas core PCP proteins are partitioned normally along the polarization axis. Thus, our data uncover a distinct requirement for ciliary genes in basal body positioning and morphological polarization during PCP regulation. 相似文献
292.
Autism Genome Project Consortium Szatmari P Paterson AD Zwaigenbaum L Roberts W Brian J Liu XQ Vincent JB Skaug JL Thompson AP Senman L Feuk L Qian C Bryson SE Jones MB Marshall CR Scherer SW Vieland VJ Bartlett C Mangin LV Goedken R Segre A Pericak-Vance MA Cuccaro ML Gilbert JR Wright HH Abramson RK Betancur C Bourgeron T Gillberg C Leboyer M Buxbaum JD Davis KL Hollander E Silverman JM Hallmayer J Lotspeich L Sutcliffe JS Haines JL Folstein SE Piven J Wassink TH Sheffield V Geschwind DH 《Nature genetics》2007,39(3):319-328
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. 相似文献
293.
Tarpey PS Raymond FL Nguyen LS Rodriguez J Hackett A Vandeleur L Smith R Shoubridge C Edkins S Stevens C O'Meara S Tofts C Barthorpe S Buck G Cole J Halliday K Hills K Jones D Mironenko T Perry J Varian J West S Widaa S Teague J Dicks E Butler A Menzies A Richardson D Jenkinson A Shepherd R Raine K Moon J Luo Y Parnau J Bhat SS Gardner A Corbett M Brooks D Thomas P Parkinson-Lawrence E Porteous ME Warner JP Sanderson T Pearson P Simensen RJ Skinner C Hoganson G Superneau D Wooster R Bobrow M 《Nature genetics》2007,39(9):1127-1133
294.
Joron M Frezal L Jones RT Chamberlain NL Lee SF Haag CR Whibley A Becuwe M Baxter SW Ferguson L Wilkinson PA Salazar C Davidson C Clark R Quail MA Beasley H Glithero R Lloyd C Sims S Jones MC Rogers J Jiggins CD ffrench-Constant RH 《Nature》2011,477(7363):203-206
Supergenes are tight clusters of loci that facilitate the co-segregation of adaptive variation, providing integrated control of complex adaptive phenotypes. Polymorphic supergenes, in which specific combinations of traits are maintained within a single population, were first described for 'pin' and 'thrum' floral types in Primula and Fagopyrum, but classic examples are also found in insect mimicry and snail morphology. Understanding the evolutionary mechanisms that generate these co-adapted gene sets, as well as the mode of limiting the production of unfit recombinant forms, remains a substantial challenge. Here we show that individual wing-pattern morphs in the polymorphic mimetic butterfly Heliconius numata are associated with different genomic rearrangements at the supergene locus P. These rearrangements tighten the genetic linkage between at least two colour-pattern loci that are known to recombine in closely related species, with complete suppression of recombination being observed in experimental crosses across a 400-kilobase interval containing at least 18 genes. In natural populations, notable patterns of linkage disequilibrium (LD) are observed across the entire P region. The resulting divergent haplotype clades and inversion breakpoints are found in complete association with wing-pattern morphs. Our results indicate that allelic combinations at known wing-patterning loci have become locked together in a polymorphic rearrangement at the P locus, forming a supergene that acts as a simple switch between complex adaptive phenotypes found in sympatry. These findings highlight how genomic rearrangements can have a central role in the coexistence of adaptive phenotypes involving several genes acting in concert, by locally limiting recombination and gene flow. 相似文献
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298.
Steidl C Shah SP Woolcock BW Rui L Kawahara M Farinha P Johnson NA Zhao Y Telenius A Neriah SB McPherson A Meissner B Okoye UC Diepstra A van den Berg A Sun M Leung G Jones SJ Connors JM Huntsman DG Savage KJ Rimsza LM Horsman DE Staudt LM Steidl U Marra MA Gascoyne RD 《Nature》2011,471(7338):377-381
299.
Effect of acoustic clutter on prey detection by bats. 总被引:7,自引:0,他引:7
Bats that capture animal prey from substrates often emit characteristic echolocation calls that are short-duration, frequency-modulated (FM) and broadband. Such calls seem to be suited to locating prey in uncluttered habitats, including flying prey, but may be less effective for finding prey among cluttered backgrounds because echoes reflecting from the substrate mask the acoustic signature of prey. Perhaps these call designs serve primarily for spatial orientation. Furthermore, it has been unclear whether the acoustic image conveyed by FM echoes enables fine texture discrimination, or whether gleaning bats that forage in echo-cluttering environments must locate prey by using other cues, such as prey-generated sounds. Here we show that two species of insectivorous gleaning bats perform badly when compelled to detect silent and immobile prey in clutter, but are very efficient at capturing noisy prey items among highly cluttered backgrounds, and both dead or live prey in uncluttered habitats. These findings suggest that the short, broadband FM echolocation calls associated with gleaning bats are not adapted to detecting prey in clutter. 相似文献
300.
The field of atomic ionization by electron impact is several decades old. In that period of time, significant progress has been made in several aspects of the problem and we have learned a lot about ionizing collisions as a result of this work. Over the years, both the experiments and theories have improved dramatically. Experiments are now able to measure absolute triple differential cross sections for both in-plane or out-of-plane geometries. Theories have been getting better and better at including all the 3-body interactions in the wavefunction for the system. However, during the history of the field, experiment has been ahead of theory and it is just very recently that theory has started to catch up. In this paper, we will show that theory is now able to accurately predict the results of electron impact ionization of hydrogen for intermediate and higher energies. 相似文献