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61.
Native TALL-1 (B-cell activation factor, BAFF; also known as BlyS) was initially described as a homotrimer, but Liu and colleagues claim that it is a 60-subunit complex on the basis of their results from X-ray crystallography and size-exclusion chromatography. They consider TALL-1 60-mers to be the biologically active form, and the arrangement of the 60-mers resembles that of the capsid of satellite tobacco necrosis virus. Here we show that active TALL-1 is trimeric under normal physiological conditions and that formation of higher-order oligomers is an artefact of tagging the amino terminus of the protein with a histidine tag. 相似文献
62.
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development 总被引:2,自引:0,他引:2
Tischfield MA Bosley TM Salih MA Alorainy IA Sener EC Nester MJ Oystreck DT Chan WM Andrews C Erickson RP Engle EC 《Nature genetics》2005,37(10):1035-1037
We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system. 相似文献
63.
Schmutz J Wheeler J Grimwood J Dickson M Yang J Caoile C Bajorek E Black S Chan YM Denys M Escobar J Flowers D Fotopulos D Garcia C Gomez M Gonzales E Haydu L Lopez F Ramirez L Retterer J Rodriguez A Rogers S Salazar A Tsai M Myers RM 《Nature》2004,429(6990):365-368
As the final sequencing of the human genome has now been completed, we present the results of the largest examination of the quality of the finished DNA sequence. The completed study covers the major contributing sequencing centres and is based on a rigorous combination of laboratory experiments and computational analysis. 相似文献
64.
国际间人口迁移的现象正在全世界范围内不断发生,城市中不同种族之间的相互影响也在不断扩大。这些文化问的碰撞给个人、公众、私有组织和社会都带来了机遇和挑战。亚洲是移民活动的重要参与者,目前越来越多的西方人移民来到亚洲。本书的目的是要理清这种移民活动所带来的利和弊、机遇和困难、优势和劣势等问题。 相似文献
65.
Wang Y Guan X Fok KL Li S Zhang X Miao S Zong S Koide SS Chan HC Wang L 《Cellular and molecular life sciences : CMLS》2008,65(23):3822-3829
Rhomboid family members are widely conserved and found in all three kingdoms of life. They are serine proteases and serve
important regulatory functions. In the present study, a novel gene highly expressed in the testis, RHBDD1, is shown to be
a new member of the Rhomboid family, participating in the cleavage of BIK, a proapoptotic member of the Bcl-2 family. The
RHBDD1-involved proteolytic modification is upstream of the BIK protein degradation pathway. Mutagenesis studies show that
the amino acid residues glycine142 and serine144 of RHBDD1 are crucial for its activity in cleaving BIK at a site located
in the transmembrane region. Overexpression or knock-down of RHBDD1 in HEK 293T cells can reduce or enhance BIK-mediated apoptosis,
respectively. The present findings suggest that, by acting as a serine protease, RHBDD1 modulates BIK-mediated apoptotic activity.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
Received 31 July 2008; received after revision 16 September 2008; accepted 19 September 2008 相似文献
66.
67.
Morin RD Mendez-Lago M Mungall AJ Goya R Mungall KL Corbett RD Johnson NA Severson TM Chiu R Field M Jackman S Krzywinski M Scott DW Trinh DL Tamura-Wells J Li S Firme MR Rogic S Griffith M Chan S Yakovenko O Meyer IM Zhao EY Smailus D Moksa M Chittaranjan S Rimsza L Brooks-Wilson A Spinelli JJ Ben-Neriah S Meissner B Woolcock B Boyle M McDonald H Tam A Zhao Y Delaney A Zeng T Tse K Butterfield Y Birol I Holt R Schein J Horsman DE Moore R Jones SJ Connors JM Hirst M Gascoyne RD Marra MA 《Nature》2011,476(7360):298-303
Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) are the two most common non-Hodgkin lymphomas (NHLs). Here we sequenced tumour and matched normal DNA from 13 DLBCL cases and one FL case to identify genes with mutations in B-cell NHL. We analysed RNA-seq data from these and another 113 NHLs to identify genes with candidate mutations, and then re-sequenced tumour and matched normal DNA from these cases to confirm 109 genes with multiple somatic mutations. Genes with roles in histone modification were frequent targets of somatic mutation. For example, 32% of DLBCL and 89% of FL cases had somatic mutations in MLL2, which encodes a histone methyltransferase, and 11.4% and 13.4% of DLBCL and FL cases, respectively, had mutations in MEF2B, a calcium-regulated gene that cooperates with CREBBP and EP300 in acetylating histones. Our analysis suggests a previously unappreciated disruption of chromatin biology in lymphomagenesis. 相似文献
68.
The DNA sequence and comparative analysis of human chromosome 5 总被引:1,自引:0,他引:1
Schmutz J Martin J Terry A Couronne O Grimwood J Lowry S Gordon LA Scott D Xie G Huang W Hellsten U Tran-Gyamfi M She X Prabhakar S Aerts A Altherr M Bajorek E Black S Branscomb E Caoile C Challacombe JF Chan YM Denys M Detter JC Escobar J Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Grigoriev I Groza M Hammon N Hawkins T Haydu L Israni S Jett J Kadner K Kimball H Kobayashi A Lopez F Lou Y Martinez D Medina C Morgan J Nandkeshwar R Noonan JP Pitluck S Pollard M Predki P 《Nature》2004,431(7006):268-274
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy. 相似文献
69.
Recent exploration has revealed extensive geological evidence for a water-rich past in the shallow subsurface of Mars. Images of in situ and loose accumulations of abundant, haematite-rich spherical balls from the Mars Exploration Rover 'Opportunity' landing site at Meridiani Planum bear a striking resemblance to diagenetic (post-depositional), haematite-cemented concretions found in the Jurassic Navajo Sandstone of southern Utah. Here we compare the spherical concretions imaged on Mars to these terrestrial concretions, and investigate the implications for analogous groundwater-related formation mechanisms. The morphology, character and distribution of Navajo haematite concretions allow us to infer host-rock properties and fluid processes necessary for similar features to develop on Mars. We conclude that the formation of such spherical haematite concretions requires the presence of a permeable host rock, groundwater flow and a chemical reaction front. 相似文献
70.
基于Green函数技术,作者首先分析了切断近似对处理一维对称周期Anderson模型中电子间关联的影响,然后计算了该模型的局域磁矩,杂化能量元和基态能量,计算结果与Blankenkecler等人的Monte Carlo模型一致,这表明Green函数方法可以较好地处理周期Anderson模型的基态性质。 相似文献