共查询到20条相似文献,搜索用时 15 毫秒
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Regulation of flowering time by FVE, a retinoblastoma-associated protein 总被引:25,自引:0,他引:25
Ausín I Alonso-Blanco C Jarillo JA Ruiz-García L Martínez-Zapater JM 《Nature genetics》2004,36(2):162-166
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Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32). 总被引:23,自引:0,他引:23
Q Zhang R Siebert M Yan B Hinzmann X Cui L Xue K M Rakestraw C W Naeve G Beckmann D D Weisenburger W G Sanger H Nowotny M Vesely E Callet-Bauchu G Salles V M Dixit A Rosenthal B Schlegelberger S W Morris 《Nature genetics》1999,22(1):63-68
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Pierron G Tirode F Lucchesi C Reynaud S Ballet S Cohen-Gogo S Perrin V Coindre JM Delattre O 《Nature genetics》2012,44(4):461-466
The identification of subtype-specific translocations has revolutionized the diagnostics of sarcoma and has provided new insight into oncogenesis. We used RNA-seq to investigate samples from individuals diagnosed with small round cell tumors of bone, possibly Ewing sarcoma, but which lacked the canonical EWSR1-ETS translocation. A new fusion was observed between BCOR (encoding the BCL6 co-repressor) and CCNB3 (encoding the testis-specific cyclin B3) on the X chromosome. RNA-seq results were confirmed by RT-PCR and through cloning of the tumor-specific genomic translocation breakpoints. In total, 24 BCOR-CCNB3-positive tumors were identified among a series of 594 sarcoma cases. Gene profiling experiments indicated that BCOR-CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewing sarcoma. Finally, we show that CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. Thus, the intrachromosomal X-chromosome fusion described here represents a new subtype of bone sarcoma caused by a newly identified gene fusion mechanism. 相似文献
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Cancer cells frequently have disease-specific chromosome rearrangements. It is poorly understood why translocations between chromosomes recur at specific breakpoints in the genome. Here we provide evidence that higher-order spatial genome organization is a contributing factor in the formation of recurrent translocations. We show that MYC, BCL and immunoglobulin loci, which are recurrently translocated in various B-cell lymphomas, are preferentially positioned in close spatial proximity relative to each other in normal B cells. Loci in spatial proximity are non-randomly positioned towards the nuclear interior in normal B cells. This locus proximity is the consequence of higher-order genome structure rather than a property of individual genes. Our results suggest that the formation of specific translocations in human lymphomas, and perhaps other tissues, is determined in part by higher-order spatial organization of the genome. 相似文献
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A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
Menzel S Garner C Gut I Matsuda F Yamaguchi M Heath S Foglio M Zelenika D Boland A Rooks H Best S Spector TD Farrall M Lathrop M Thein SL 《Nature genetics》2007,39(10):1197-1199
F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance. 相似文献
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Mutations truncating the EP300 acetylase in human cancers 总被引:21,自引:0,他引:21
Gayther SA Batley SJ Linger L Bannister A Thorpe K Chin SF Daigo Y Russell P Wilson A Sowter HM Delhanty JD Ponder BA Kouzarides T Caldas C 《Nature genetics》2000,24(3):300-303
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Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells 总被引:1,自引:0,他引:1
Loewer S Cabili MN Guttman M Loh YH Thomas K Park IH Garber M Curran M Onder T Agarwal S Manos PD Datta S Lander ES Schlaeger TM Daley GQ Rinn JL 《Nature genetics》2010,42(12):1113-1117
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Transcriptional regulation and function during the human cell cycle 总被引:20,自引:0,他引:20
Cho RJ Huang M Campbell MJ Dong H Steinmetz L Sapinoso L Hampton G Elledge SJ Davis RW Lockhart DJ 《Nature genetics》2001,27(1):48-54