Abstract:
:Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampling of an estimated 14,000 gene complement. By analyzing automated Gene Ontology assignments, we provide a detailed view of important S. mansoni biological systems, including characterization of metazoa-specific and eukarya-conserved genes. Phylogenetic analysis suggests an early divergence from other metazoa. The data set provides insights into the molecular mechanisms of tissue organization, development, signaling, sexual dimorphism, host interactions and immune evasion and identifies novel proteins to be investigated as vaccine candidates and potential drug targets.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Verjovski-Almeida S,DeMarco R,Martins EA,Guimarães PE,Ojopi EP,Paquola AC,Piazza JP,Nishiyama MY Jr,Kitajima JP,Adamson RE,Ashton PD,Bonaldo MF,Coulson PS,Dillon GP,Farias LP,Gregorio SP,Ho PL,Leite RA,Malaquias LC,doi
10.1038/ng1237keywords:
subject
Has Abstractpub_date
2003-10-01 00:00:00pages
148-57issue
2eissn
1061-4036issn
1546-1718pii
ng1237journal_volume
35pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Head or ear blight, mainly caused by Fusarium species, can devastate almost all staple cereal crops (particularly wheat), resulting in great economic loss and imposing health threats on both human beings and livestock1-3. However, achievement in breeding for highly resistant cultivars is still not satisfactory. Here, ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0426-7
更新日期:2019-07-01 00:00:00
abstract::Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0393-247
更新日期:1993-03-01 00:00:00
abstract::The Escherichia coli gene recQ was identified as a RecF recombination pathway gene. The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae, was identified by mutations that suppress the top3 slow-growth phenotype. Relatively little is known about the function of Sgs1p because single mutati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/83673
更新日期:2001-01-01 00:00:00
abstract::With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex b...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/13783
更新日期:1999-10-01 00:00:00
abstract::Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3673
更新日期:2016-11-01 00:00:00
abstract::Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolite...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1815
更新日期:2006-07-01 00:00:00
abstract::Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0397-273
更新日期:1997-03-01 00:00:00
abstract::Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5.2 kilobase transcript, expressed specifically in peripheral nerve, that initiates at a previously unrecognized exon located approximately 850 basepairs upstream of dystrophin exon 56. The likely product of this transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0593-77
更新日期:1993-05-01 00:00:00
abstract::Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2635
更新日期:2013-06-01 00:00:00
abstract::After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1). The strongest signal was obtained at the rs2057178 SNP (P = 2.63 × 10(-9))....
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.1080
更新日期:2012-02-05 00:00:00
abstract::Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis ...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.3892
更新日期:2017-07-01 00:00:00
abstract::The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1195-331
更新日期:1995-11-01 00:00:00
abstract::Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1427
更新日期:2004-10-01 00:00:00
abstract::Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to ch...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0894-502
更新日期:1994-08-01 00:00:00
abstract::The Drosophila melanogaster gene Dscam is essential for axon guidance and has 38,016 possible alternative splice forms. This diversity can potentially be used to distinguish cells. We analyzed the Dscam mRNA isoforms expressed by different cell types and individual cells. The choice of splice variants expressed is reg...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1299
更新日期:2004-03-01 00:00:00
abstract::A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3924
更新日期:2017-07-27 00:00:00
abstract::Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0394-273
更新日期:1994-03-01 00:00:00
abstract::A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3758
更新日期:2016-12-28 00:00:00
abstract::We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2213
更新日期:2012-03-18 00:00:00
abstract::Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0496-376
更新日期:1996-04-01 00:00:00
abstract::Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3211
更新日期:2015-03-01 00:00:00
abstract::The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0598-60
更新日期:1998-05-01 00:00:00
abstract::Retrotransposition affects genome structure by increasing repetition and producing insertional mutations. Dispersion of the retrotransposon L1 throughout mammalian genomes suggests that L1 activity might be an important evolutionary force. Here we report that L1 retrotransposition contributes to rapid genome evolution...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3104
更新日期:1998-11-01 00:00:00
abstract::Low-level ectopic expression of the Runt transcription factor blocks activation of the Drosophila melanogaster segmentation gene engrailed (en) in odd-numbered parasegments and is associated with a lethal phenotype. Here we show, by using a genetic screen for maternal factors that contribute in a dose-dependent fashio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng942
更新日期:2002-09-01 00:00:00
abstract::Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1292-335
更新日期:1992-12-01 00:00:00
abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3488
更新日期:2016-03-01 00:00:00
abstract::Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creatin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1581
更新日期:2005-07-01 00:00:00
abstract::Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 ca...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/10297
更新日期:1999-07-01 00:00:00
abstract::Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatell...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1166
更新日期:2003-06-01 00:00:00
abstract::Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0993-35
更新日期:1993-09-01 00:00:00