排序方式: 共有60条查询结果,搜索用时 31 毫秒
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Unexpected complexity of the Wnt gene family in a sea anemone 总被引:1,自引:0,他引:1
Kusserow A Pang K Sturm C Hrouda M Lentfer J Schmidt HA Technau U von Haeseler A Hobmayer B Martindale MQ Holstein TW 《Nature》2005,433(7022):156-160
The Wnt gene family encodes secreted signalling molecules that control cell fate in animal development and human diseases. Despite its significance, the evolution of this metazoan-specific protein family is unclear. In vertebrates, twelve Wnt subfamilies were defined, of which only six have counterparts in Ecdysozoa (for example, Drosophila and Caenorhabditis). Here, we report the isolation of twelve Wnt genes from the sea anemone Nematostella vectensis, a species representing the basal group within cnidarians. Cnidarians are diploblastic animals and the sister-group to bilaterian metazoans. Phylogenetic analyses of N. vectensis Wnt genes reveal a thus far unpredicted ancestral diversity within the Wnt family. Cnidarians and bilaterians have at least eleven of the twelve known Wnt gene subfamilies in common; five subfamilies appear to be lost in the protostome lineage. Expression patterns of Wnt genes during N. vectensis embryogenesis indicate distinct roles of Wnts in gastrulation, resulting in serial overlapping expression domains along the primary axis of the planula larva. This unexpectedly complex inventory of Wnt family signalling factors evolved in early multi-cellular animals about 650 million years (Myr) ago, predating the Cambrian explosion by at least 100 Myr (refs 5, 8). It emphasizes the crucial function of Wnt genes in the diversification of eumetazoan body plans. 相似文献
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McDonald D Vogelstein B King MC Hong WK Augustin H Hanahan D Lippman M 《Nature》2006,440(7087):978-979
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Activation of the protein C3 into C3b in the complement pathway is a crucial step in the complement immune response against pathogenic, immunogenic and apoptotic particles. Ajees et al. describe a crystal structure for C3b that deviates from the one reported by Janssen et al. and by Wiesmann et al.. We have reanalysed the data deposited by Ajees et al. and have discovered features that are inconsistent with the known physical properties of macromolecular structures and their diffraction data. Our findings therefore call into question the crystal structure for C3b reported by Ajees et al.. 相似文献
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The representation of reality is a fundamental concept in the perception of theworld. Its historical consideration leads to an understanding of historical andcontemporary culture. In this paper we specifically investigate theanthropometric stage of cultural development as a historical world view. Wedefine this stage on the basis of René Girard's hypotheses on the origin ofculture, and we isolate its principles. Next, we consider the function of art asthe representation of cultural values. We investigate the three major motivesof artistic representation in the anthropometric stage, i.e. beauty, dramatizationand mimesis. We show how and why these motives play an essential partin the obfuscation and explanation of the origin of culture. Finally, we showhow these developments are dealt with in the aesthetics of Plato and Aristotle. 相似文献
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome 总被引:1,自引:0,他引:1
Koolen DA Kramer JM Neveling K Nillesen WM Moore-Barton HL Elmslie FV Toutain A Amiel J Malan V Tsai AC Cheung SW Gilissen C Verwiel ET Martens S Feuth T Bongers EM de Vries P Scheffer H Vissers LE de Brouwer AP Brunner HG Veltman JA Schenck A Yntema HG de Vries BB 《Nature genetics》2012,44(6):639-641
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes. 相似文献
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den Hollander AI Koenekoop RK Mohamed MD Arts HH Boldt K Towns KV Sedmak T Beer M Nagel-Wolfrum K McKibbin M Dharmaraj S Lopez I Ivings L Williams GA Springell K Woods CG Jafri H Rashid Y Strom TM van der Zwaag B Gosens I Kersten FF van Wijk E Veltman JA Zonneveld MN van Beersum SE Maumenee IH Wolfrum U Cheetham ME Ueffing M Cremers FP Inglehearn CF Roepman R 《Nature genetics》2007,39(7):889-895
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Barrett JH Iles MM Harland M Taylor JC Aitken JF Andresen PA Akslen LA Armstrong BK Avril MF Azizi E Bakker B Bergman W Bianchi-Scarrà G Bressac-de Paillerets B Calista D Cannon-Albright LA Corda E Cust AE Dębniak T Duffy D Dunning AM Easton DF Friedman E Galan P Ghiorzo P Giles GG Hansson J Hocevar M Höiom V Hopper JL Ingvar C Janssen B Jenkins MA Jönsson G Kefford RF Landi G Landi MT Lang J Lubiński J Mackie R Malvehy J Martin NG Molven A Montgomery GW van Nieuwpoort FA Novakovic S Olsson H 《Nature genetics》2011,43(11):1108-1113
We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series. 相似文献
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Li M Zhao H Zhang X Wood LD Anders RA Choti MA Pawlik TM Daniel HD Kannangai R Offerhaus GJ Velculescu VE Wang L Zhou S Vogelstein B Hruban RH Papadopoulos N Cai J Torbenson MS Kinzler KW 《Nature genetics》2011,43(9):828-829
Through exomic sequencing of ten hepatitis C virus (HCV)-associated hepatocellular carcinomas (HCC) and subsequent evaluation of additional affected individuals, we discovered novel inactivating mutations of ARID2 in four major subtypes of HCC (HCV-associated HCC, hepatitis B virus (HBV)-associated HCC, alcohol-associated HCC and HCC with no known etiology). Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. 相似文献