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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease 总被引:24,自引:0,他引:24
Rioux JD Daly MJ Silverberg MS Lindblad K Steinhart H Cohen Z Delmonte T Kocher K Miller K Guschwan S Kulbokas EJ O'Leary S Winchester E Dewar K Green T Stone V Chow C Cohen A Langelier D Lapointe G Gaudet D Faith J Branco N Bull SB McLeod RS Griffiths AM Bitton A Greenberg GR Lander ES Siminovitch KA Hudson TJ 《Nature genetics》2001,29(2):223-228
Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization of rare disease genes, but has not yet been widely applied to common disease. We sought to design a systematic approach for LD mapping and apply it to the localization of a gene (IBD5) conferring susceptibility to Crohn disease. The key issues are: (i) to detect a significant LD signal (ii) to rigorously bound the critical region and (iii) to identify the causal genetic variant within this region. We previously mapped the IBD5 locus to a large region spanning 18 cM of chromosome 5q31 (P<10(-4)). Using dense genetic maps of microsatellite markers and single-nucleotide polymorphisms (SNPs) across the entire region, we found strong evidence of LD. We bound the region to a common haplotype spanning 250 kb that shows strong association with the disease (P< 2 x 10(-7)) and contains the cytokine gene cluster. This finding provides overwhelming evidence that a specific common haplotype of the cytokine region in 5q31 confers susceptibility to Crohn disease. However, genetic evidence alone is not sufficient to identify the causal mutation within this region, as strong LD across the region results in multiple SNPs having equivalent genetic evidence-each consistent with the expected properties of the IBD5 locus. These results have important implications for Crohn disease in particular and LD mapping in general. 相似文献
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D. P. O'Leary J. Vilches-Troya R. F. Dunn A. Campos-Munõz 《Cellular and molecular life sciences : CMLS》1981,37(1):86-88
Summary Black magnetic particles are intermixed with white crystalline otoconia in the inner ear gravity receptors of a saltwater ray. Their size and composition suggest that they are multidomains of magnetite-ilmenite.Acknowledgments. We thank Dennis Fulgoni for technical assistance and the Instituto de Investigaciones Pesqueras, Cadiz, Spain, for assistance in obtaining guitarfish. This work was support in part by grant NS 12494, from the National Institute of Communicative Disorders and Stroke. 相似文献
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Zusammenfassung Beim HechtEsox lucius L. liess sich ein Lymphosarkom durch zellfreie Filtrate übertragen und damit die Virus-Aetiologie nachweisen. 相似文献
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Fetal occipital cortical neurones transplanted to the rostral cortex can extend and maintain a pyramidal tract axon 总被引:2,自引:0,他引:2
In adult rats, cortical neurones that send axons through the pyramidal tract are confined to layer V, over the rostral two-thirds of the cerebral hemisphere. However, during the first postnatal week, many neurones in layer V in the occipital cortex (including the visual cortex) also extend axon collaterals through the pyramidal tract and into the spinal cord. These occipital corticospinal collaterals are completely eliminated over the subsequent 2 weeks, although their cells of origin do not die. We now report that when portions of the occipital cortex from fetal rats are transplanted to more rostral cortical regions of newborn rats, some of the transplanted neurones not only extend axons through the pyramidal tract, but also maintain these axons beyond the stage at which they are normally eliminated. These results suggest that normally-eliminated cortical axons can be 'rescued' and, in the case of pyramidal tract neurones, the position of the neurones within the tangential plane of the cortex is a critical factor in determining which neurones retain and which lose their pyramidal tract collaterals. 相似文献
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An index to assess the health and benefits of the global ocean 总被引:15,自引:0,他引:15
BS Halpern C Longo D Hardy KL McLeod JF Samhouri SK Katona K Kleisner SE Lester J O'Leary M Ranelletti AA Rosenberg C Scarborough ER Selig BD Best DR Brumbaugh FS Chapin LB Crowder KL Daly SC Doney C Elfes MJ Fogarty SD Gaines KI Jacobsen LB Karrer HM Leslie E Neeley D Pauly S Polasky B Ris K St Martin GS Stone UR Sumaila D Zeller 《Nature》2012,488(7413):615-620
The ocean plays a critical role in supporting human well-being, from providing food, livelihoods and recreational opportunities to regulating the global climate. Sustainable management aimed at maintaining the flow of a broad range of benefits from the ocean requires a comprehensive and quantitative method to measure and monitor the health of coupled human–ocean systems. We created an index comprising ten diverse public goals for a healthy coupled human–ocean system and calculated the index for every coastal country. Globally, the overall index score was 60 out of 100 (range 36–86), with developed countries generally performing better than developing countries, but with notable exceptions. Only 5% of countries scored higher than 70, whereas 32% scored lower than 50. The index provides a powerful tool to raise public awareness, direct resource management, improve policy and prioritize scientific research. 相似文献
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Nusbaum C Zody MC Borowsky ML Kamal M Kodira CD Taylor TD Whittaker CA Chang JL Cuomo CA Dewar K FitzGerald MG Yang X Abouelleil A Allen NR Anderson S Bloom T Bugalter B Butler J Cook A DeCaprio D Engels R Garber M Gnirke A Hafez N Hall JL Norman CH Itoh T Jaffe DB Kuroki Y Lehoczky J Lui A Macdonald P Mauceli E Mikkelsen TS Naylor JW Nicol R Nguyen C Noguchi H O'Leary SB O'Neill K Piqani B Smith CL Talamas JA Topham K Totoki Y Toyoda A Wain HM Young SK Zeng Q Zimmer AR Fujiyama A Hattori M 《Nature》2005,437(7058):551-555
Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements. 相似文献