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排序方式: 共有160条查询结果,搜索用时 15 毫秒
91.
92.
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
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Sarah De Clercq Olivier Zwaenepoel Evelien Martens Joël Vandekerckhove Aude Guillabert Jan Gettemans 《Cellular and molecular life sciences : CMLS》2013,70(5):909-922
The T cell integrin receptor LFA-1 orchestrates adhesion between T cells and antigen-presenting cells (APCs), resulting in formation of a contact zone known as the immune synapse (IS) which is supported by the cytoskeleton. L-plastin is a leukocyte-specific actin bundling protein that rapidly redistributes to the immune synapse following T cell–APC engagement. We used single domain antibodies (nanobodies, derived from camelid heavy-chain only antibodies) directed against functional and structural modules of L-plastin to investigate its contribution to formation of an immune synapse between Raji cells and human peripheral blood mononuclear cells or Jurkat T cells. Nanobodies that interact either with the EF hands or the actin binding domains of L-plastin both trapped L-plastin in an inactive conformation, causing perturbation of IS formation, MTOC docking towards the plasma membrane, T cell proliferation and IL-2 secretion. Both nanobodies delayed Ser5 phosphorylation of L-plastin which is required for enhanced bundling activity. Moreover, one nanobody delayed LFA-1 phosphorylation, reduced the association between LFA-1 and L-plastin and prevented LFA-1 enrichment at the IS. Our findings reveal subtle mechanistic details that are difficult to attain by conventional means and show that L-plastin contributes to immune synapse formation at distinct echelons. 相似文献
96.
Müller T Hess MW Schiefermeier N Pfaller K Ebner HL Heinz-Erian P Ponstingl H Partsch J Röllinghoff B Köhler H Berger T Lenhartz H Schlenck B Houwen RJ Taylor CJ Zoller H Lechner S Goulet O Utermann G Ruemmele FM Huber LA Janecke AR 《Nature genetics》2008,40(10):1163-1165
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID. 相似文献
97.
Rothman N Garcia-Closas M Chatterjee N Malats N Wu X Figueroa JD Real FX Van Den Berg D Matullo G Baris D Thun M Kiemeney LA Vineis P De Vivo I Albanes D Purdue MP Rafnar T Hildebrandt MA Kiltie AE Cussenot O Golka K Kumar R Taylor JA Mayordomo JI Jacobs KB Kogevinas M Hutchinson A Wang Z Fu YP Prokunina-Olsson L Burdett L Yeager M Wheeler W Tardón A Serra C Carrato A García-Closas R Lloreta J Johnson A Schwenn M Karagas MR Schned A Andriole G Grubb R Black A Jacobs EJ Diver WR Gapstur SM 《Nature genetics》2010,42(11):978-984
We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10?12) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10?11) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10??) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10?11) and a tag SNP for NAT2 acetylation status (P = 4 × 10?11), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis. 相似文献
98.
The seed habit represents a remarkable evolutionary advance in plant sexual reproduction. Since the Paleozoic, seeds carry a seed coat that protects, nourishes and facilitates the dispersal of the fertilization product(s). The seed coat architecture evolved to adapt to different environments and reproductive strategies in part by modifying its thickness. Here, we review the great natural diversity observed in seed coat thickness among angiosperms and its molecular regulation in Arabidopsis. 相似文献
99.
There are three kinds of sources available to reconstruct the reflections that led Einstein to special relativity: a few contemporary letters and documents, his impersonal accounts of the genesis of this theory, and recollections of his own path. At first glance, contradictions within and between these sources hamper the reliability of Einstein’s accounts. Yet, a closer analysis reveals much more consistency than foreseen and helps eliminate the dubious, contradictory elements. It then becomes possible to combine the three kinds of sources to produce a minimally speculative and yet fairly coherent account of the genesis of special relativity. 相似文献
100.
A D'Hont F Denoeud JM Aury FC Baurens F Carreel O Garsmeur B Noel S Bocs G Droc M Rouard C Da Silva K Jabbari C Cardi J Poulain M Souquet K Labadie C Jourda J Lengellé M Rodier-Goud A Alberti M Bernard M Correa S Ayyampalayam MR Mckain J Leebens-Mack D Burgess M Freeling D Mbéguié-A-Mbéguié M Chabannes T Wicker O Panaud J Barbosa E Hribova P Heslop-Harrison R Habas R Rivallan P Francois C Poiron A Kilian D Burthia C Jenny F Bakry S Brown V Guignon G Kema M Dita C Waalwijk S Joseph A Dievart 《Nature》2012,488(7410):213-217
Bananas (Musa spp.), including dessert and cooking types, are giant perennial monocotyledonous herbs of the order Zingiberales, a sister group to the well-studied Poales, which include cereals. Bananas are vital for food security in many tropical and subtropical countries and the most popular fruit in industrialized countries. The Musa domestication process started some 7,000 years ago in Southeast Asia. It involved hybridizations between diverse species and subspecies, fostered by human migrations, and selection of diploid and triploid seedless, parthenocarpic hybrids thereafter widely dispersed by vegetative propagation. Half of the current production relies on somaclones derived from a single triploid genotype (Cavendish). Pests and diseases have gradually become adapted, representing an imminent danger for global banana production. Here we describe the draft sequence of the 523-megabase genome of a Musa acuminata doubled-haploid genotype, providing a crucial stepping-stone for genetic improvement of banana. We detected three rounds of whole-genome duplications in the Musa lineage, independently of those previously described in the Poales lineage and the one we detected in the Arecales lineage. This first monocotyledon high-continuity whole-genome sequence reported outside Poales represents an essential bridge for comparative genome analysis in plants. As such, it clarifies commelinid-monocotyledon phylogenetic relationships, reveals Poaceae-specific features and has led to the discovery of conserved non-coding sequences predating monocotyledon-eudicotyledon divergence. 相似文献