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排序方式: 共有188条查询结果,搜索用时 31 毫秒
151.
Yang H Wang JR Didion JP Buus RJ Bell TA Welsh CE Bonhomme F Yu AH Nachman MW Pialek J Tucker P Boursot P McMillan L Churchill GA de Villena FP 《Nature genetics》2011,43(7):648-655
Here we provide a genome-wide, high-resolution map of the phylogenetic origin of the genome of most extant laboratory mouse inbred strains. Our analysis is based on the genotypes of wild-caught mice from three subspecies of Mus musculus. We show that classical laboratory strains are derived from a few fancy mice with limited haplotype diversity. Their genomes are overwhelmingly Mus musculus domesticus in origin, and the remainder is mostly of Japanese origin. We generated genome-wide haplotype maps based on identity by descent from fancy mice and show that classical inbred strains have limited and non-randomly distributed genetic diversity. In contrast, wild-derived laboratory strains represent a broad sampling of diversity within M. musculus. Intersubspecific introgression is pervasive in these strains, and contamination by laboratory stocks has played a role in this process. The subspecific origin, haplotype diversity and identity by descent maps can be visualized using the Mouse Phylogeny Viewer (see URLs). 相似文献
152.
Haiman CA Chen GK Blot WJ Strom SS Berndt SI Kittles RA Rybicki BA Isaacs WB Ingles SA Stanford JL Diver WR Witte JS Hsing AW Nemesure B Rebbeck TR Cooney KA Xu J Kibel AS Hu JJ John EM Gueye SM Watya S Signorello LB Hayes RB Wang Z Yeboah E Tettey Y Cai Q Kolb S Ostrander EA Zeigler-Johnson C Yamamura Y Neslund-Dudas C Haslag-Minoff J Wu W Thomas V Allen GO Murphy A Chang BL Zheng SL Leske MC Wu SY Ray AM Hennis AJ Thun MJ Carpten J Casey G Carter EN Duarte ER Xia LY Sheng X Wan P Pooler LC 《Nature genetics》2011,43(6):570-573
In search of common risk alleles for prostate cancer that could contribute to high rates of the disease in men of African ancestry, we conducted a genome-wide association study, with 1,047,986 SNP markers examined in 3,425 African-Americans with prostate cancer (cases) and 3,290 African-American male controls. We followed up the most significant 17 new associations from stage 1 in 1,844 cases and 3,269 controls of African ancestry. We identified a new risk variant on chromosome 17q21 (rs7210100, odds ratio per allele = 1.51, P = 3.4 × 10(-13)). The frequency of the risk allele is ~5% in men of African descent, whereas it is rare in other populations (<1%). Further studies are needed to investigate the biological contribution of this allele to prostate cancer risk. These findings emphasize the importance of conducting genome-wide association studies in diverse populations. 相似文献
153.
On the subspecific origin of the laboratory mouse 总被引:11,自引:0,他引:11
The genome of the laboratory mouse is thought to be a mosaic of regions with distinct subspecific origins. We have developed a high-resolution map of the origin of the laboratory mouse by generating 25,400 phylogenetic trees at 100-kb intervals spanning the genome. On average, 92% of the genome is of Mus musculus domesticus origin, and the distribution of diversity is markedly nonrandom among the chromosomes. There are large regions of extremely low diversity, which represent blind spots for studies of natural variation and complex traits, and hot spots of diversity. In contrast with the mosaic model, we found that most of the genome has intermediate levels of variation of intrasubspecific origin. Finally, mouse strains derived from the wild that are supposed to represent different mouse subspecies show substantial intersubspecific introgression, which has strong implications for evolutionary studies that assume these are pure representatives of a given subspecies. 相似文献
154.
155.
Ferreira MA O'Donovan MC Meng YA Jones IR Ruderfer DM Jones L Fan J Kirov G Perlis RH Green EK Smoller JW Grozeva D Stone J Nikolov I Chambert K Hamshere ML Nimgaonkar VL Moskvina V Thase ME Caesar S Sachs GS Franklin J Gordon-Smith K Ardlie KG Gabriel SB Fraser C Blumenstiel B Defelice M Breen G Gill M Morris DW Elkin A Muir WJ McGhee KA Williamson R MacIntyre DJ MacLean AW St CD Robinson M Van Beck M Pereira AC Kandaswamy R McQuillin A Collier DA Bass NJ Young AH Lawrence J Ferrier IN 《Nature genetics》2008,40(9):1056-1058
To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x 10(-9)) in ANK3 (ankyrin G). We also found further support for the previously reported CACNA1C (alpha 1C subunit of the L-type voltage-gated calcium channel; combined P = 7.0 x 10(-8), rs1006737). Our results suggest that ion channelopathies may be involved in the pathogenesis of bipolar disorder. 相似文献
156.
Nath SK Han S Kim-Howard X Kelly JA Viswanathan P Gilkeson GS Chen W Zhu C McEver RP Kimberly RP Alarcón-Riquelme ME Vyse TJ Li QZ Wakeland EK Merrill JT James JA Kaufman KM Guthridge JM Harley JB 《Nature genetics》2008,40(2):152-154
We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 x 10(-17), odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta2-integrin adhesion pathway in disease development. 相似文献
157.
采用化学气相沉积法,以不锈钢基体中的Fe、Ni等成分为催化剂,直接在其表面生长碳纳米管并进行氧化热处理。采用场发射扫描电镜观察制备的碳纳米管形貌及尺寸,并采用接触角测量方法检测试样亲水性质,结合透射电镜、拉曼光谱和XPS检测分析氧化热处理引起的碳管形貌和特征差异,最后考察尿酸在碳纳米管电极上的电化学响应。结果表明,氧化热处理使碳纳米管平滑的表面变得粗糙,暴露出了更多的边平面结构,并且碳纳米管从疏水变为超亲水状态,使其在电化学反应过程中电极表面能够更好地与溶液中的物质接触,有利于材料电化学性能的提高;以经过氧化热处理的碳纳米管为电极,能够在大量抗坏血酸存在的条件下选择性地测定尿酸。 相似文献
158.
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy 总被引:15,自引:0,他引:15
Bonne G Di Barletta MR Varnous S Bécane HM Hammouda EH Merlini L Muntoni F Greenberg CR Gary F Urtizberea JA Duboc D Fardeau M Toniolo D Schwartz K 《Nature genetics》1999,21(3):285-288
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked form. We have mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus. This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. We identified four mutations in LMNA that co-segregate with the disease phenotype in the five families: one nonsense mutation and three missense mutations. These results are the first identification of mutations in a component of the nuclear lamina as a cause of inherited muscle disorder. Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders. 相似文献
159.
160.
McKay JD Hung RJ Gaborieau V Boffetta P Chabrier A Byrnes G Zaridze D Mukeria A Szeszenia-Dabrowska N Lissowska J Rudnai P Fabianova E Mates D Bencko V Foretova L Janout V McLaughlin J Shepherd F Montpetit A Narod S Krokan HE Skorpen F Elvestad MB Vatten L Njølstad I Axelsson T Chen C Goodman G Barnett M Loomis MM Lubiñski J Matyjasik J Lener M Oszutowska D Field J Liloglou T Xinarianos G Cassidy A;EPIC Study Vineis P Clavel-Chapelon F Palli D Tumino R Krogh V Panico S González CA 《Nature genetics》2008,40(12):1404-1406
We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the independent study series (P = 7 x 10(-5) and P = 0.016). The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. 相似文献