当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33.

Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33.

Abstract：

:Three hundred million individuals are at risk of infection by schistosomes and around 200,000 die each year of this disease. Severe clinical disease in schistosomiasis is often the consequence of heavy infection which, in several endemic areas, are determined largely by the susceptibility/resistance of individuals. Previously, we reported evidence, based on a segregation analysis in Brazilian pedigrees, that intensity of infection by Schistosoma mansoni was influenced by a major gene, indicating that host genetic factors are probably critical in controlling schistosome infection and disease development. To localize this gene, referred to as SM1, we performed a genome-wide study on 142 Brazilian subjects belonging to 11 informative families Our results show a linkage to only one region, on chromosome 5q31-q33, with maximum two-point lod scores of +4.74 and +4.52 for D5S636 and the colony stimulating factor-1 receptor marker (CSF1R), respectively. This was corroborated by multipoint analysis, indicating a close proximity to CSF1R as the most likely location of SM1. This region contains several candidate genes encoding immunological molecules that were shown to play important roles in human protection against schistosomes.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Marquet S,Abel L,Hillaire D,Dessein H,Kalil J,Feingold J,Weissenbach J,Dessein AJ

doi

10.1038/ng1096-181

subject

Has Abstract

pub_date

1996-10-01 00:00:00

pages

181-4

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

14

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • A map of constrained coding regions in the human genome.

    abstract：:Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0294-6

    authors： Havrilla JM,Pedersen BS,Layer RM,Quinlan AR

    更新日期：2019-01-01 00:00:00

  • Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.

    abstract：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.337

    authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

    更新日期：2009-03-01 00:00:00

  • In vivo selection using a cell-growth switch.

    abstract：:A major obstacle to stem-cell gene therapy rests in the inability to deliver a gene into a therapeutically relevant fraction of stem cells. One way to circumvent this obstacle is to use selection. Vectors containing two linked genes serve as the basis for selection, with one gene encoding a selectable product and the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/79194

    authors： Jin L,Zeng H,Chien S,Otto KG,Richard RE,Emery DW,Blau CA

    更新日期：2000-09-01 00:00:00

  • Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

    abstract：:Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic pa...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1313

    authors： Windpassinger C,Auer-Grumbach M,Irobi J,Patel H,Petek E,Hörl G,Malli R,Reed JA,Dierick I,Verpoorten N,Warner TT,Proukakis C,Van den Bergh P,Verellen C,Van Maldergem L,Merlini L,De Jonghe P,Timmerman V,Crosby AH,Wagn

    更新日期：2004-03-01 00:00:00

  • Identification and characterization of rod-derived cone viability factor.

    abstract：:Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1386

    authors： Léveillard T,Mohand-Saïd S,Lorentz O,Hicks D,Fintz AC,Clérin E,Simonutti M,Forster V,Cavusoglu N,Chalmel F,Dollé P,Poch O,Lambrou G,Sahel JA

    更新日期：2004-07-01 00:00:00

  • A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.

    abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

    journal_title：Nature genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/ng.2636

    authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

    更新日期：2013-07-01 00:00:00

  • Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferation.

    abstract：:c-Jun is a major component of the heterodimeric transcription factor AP-1 and is essential for embryonic development, as fetuses lacking Jun die at mid-gestation with impaired hepatogenesis and primary Jun-/- fibroblasts have a severe proliferation defect and undergo premature senescence in vitro. c-Jun and AP-1 activ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/6854

    authors： Behrens A,Sibilia M,Wagner EF

    更新日期：1999-03-01 00:00:00

  • Assessing the impact of population stratification on genetic association studies.

    abstract：:Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked gene...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1333

    authors： Freedman ML,Reich D,Penney KL,McDonald GJ,Mignault AA,Patterson N,Gabriel SB,Topol EJ,Smoller JW,Pato CN,Pato MT,Petryshen TL,Kolonel LN,Lander ES,Sklar P,Henderson B,Hirschhorn JN,Altshuler D

    更新日期：2004-04-01 00:00:00

  • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

    abstract：:Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wid...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.922

    authors： Wain LV,Verwoert GC,O'Reilly PF,Shi G,Johnson T,Johnson AD,Bochud M,Rice KM,Henneman P,Smith AV,Ehret GB,Amin N,Larson MG,Mooser V,Hadley D,Dörr M,Bis JC,Aspelund T,Esko T,Janssens AC,Zhao JH,Heath S,Laan M,

    更新日期：2011-09-11 00:00:00

  • Activating SRC mutation in a subset of advanced human colon cancers.

    abstract：:The discovery of Rous sarcoma virus (RSV) led to the identification of cellular Src (c-Src), a non-receptor tyrosine kinase, which has since been implicated in the development of numerous human cancers. c-Src has been found to be highly activated in colon cancers, particularly in those metastatic to the liver. Studies...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/5971

    authors： Irby RB,Mao W,Coppola D,Kang J,Loubeau JM,Trudeau W,Karl R,Fujita DJ,Jove R,Yeatman TJ

    更新日期：1999-02-01 00:00:00

  • Common variants at 11p13 are associated with susceptibility to tuberculosis.

    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

    authors： Thye T,Owusu-Dabo E,Vannberg FO,van Crevel R,Curtis J,Sahiratmadja E,Balabanova Y,Ehmen C,Muntau B,Ruge G,Sievertsen J,Gyapong J,Nikolayevskyy V,Hill PC,Sirugo G,Drobniewski F,van de Vosse E,Newport M,Alisjahbana B,

    更新日期：2012-02-05 00:00:00

  • Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

    abstract：:The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion have no amnion. The embryos are severely compromised, surviving to the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1098

    authors： Tanner SM,Aminoff M,Wright FA,Liyanarachchi S,Kuronen M,Saarinen A,Massika O,Mandel H,Broch H,de la Chapelle A

    更新日期：2003-03-01 00:00:00

  • Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.

    abstract：:We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.129

    authors： Monti J,Fischer J,Paskas S,Heinig M,Schulz H,Gösele C,Heuser A,Fischer R,Schmidt C,Schirdewan A,Gross V,Hummel O,Maatz H,Patone G,Saar K,Vingron M,Weldon SM,Lindpaintner K,Hammock BD,Rohde K,Dietz R,Cook SA,Sc

    更新日期：2008-05-01 00:00:00

  • SMAD4-deficient intestinal tumors recruit CCR1+ myeloid cells that promote invasion.

    abstract：:Inactivation of TGF-beta family signaling is implicated in colorectal tumor progression. Using cis-Apc(+/Delta716) Smad4(+/-) mutant mice (referred to as cis-Apc/Smad4), a model of invasive colorectal cancer in which TGF-beta family signaling is blocked, we show here that a new type of immature myeloid cell (iMC) is r...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1997

    authors： Kitamura T,Kometani K,Hashida H,Matsunaga A,Miyoshi H,Hosogi H,Aoki M,Oshima M,Hattori M,Takabayashi A,Minato N,Taketo MM

    更新日期：2007-04-01 00:00:00

  • X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo.

    abstract：:During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage-dependent fashion? We have examined this question in mouse...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0293-170

    authors： Tan SS,Williams EA,Tam PP

    更新日期：1993-02-01 00:00:00

  • Defective colour vision associated with a missense mutation in the human green visual pigment gene.

    abstract：:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0792-251

    authors： Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SS

    更新日期：1992-07-01 00:00:00

  • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

    abstract：:A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.584

    authors： Sanna S,Pitzalis M,Zoledziewska M,Zara I,Sidore C,Murru R,Whalen MB,Busonero F,Maschio A,Costa G,Melis MC,Deidda F,Poddie F,Morelli L,Farina G,Li Y,Dei M,Lai S,Mulas A,Cuccuru G,Porcu E,Liang L,Zavattari P,M

    更新日期：2010-06-01 00:00:00

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    abstract：:We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0223-8

    authors： Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

    更新日期：2018-11-01 00:00:00

  • Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

    abstract：:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1927

    authors： Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GA

    更新日期：2007-01-01 00:00:00

  • Untangling the genetics from the epigenetics in pancreatic cancer metastasis.

    abstract：:Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3798

    authors： Vakoc CR,Tuveson DA

    更新日期：2017-02-24 00:00:00

  • Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

    abstract：:MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.915

    authors： de Pontual L,Yao E,Callier P,Faivre L,Drouin V,Cariou S,Van Haeringen A,Geneviève D,Goldenberg A,Oufadem M,Manouvrier S,Munnich A,Vidigal JA,Vekemans M,Lyonnet S,Henrion-Caude A,Ventura A,Amiel J

    更新日期：2011-09-04 00:00:00

  • Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

    abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.813

    authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

    更新日期：2011-06-01 00:00:00

  • Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

    abstract：:We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3177

    authors： Zhang MY,Churpek JE,Keel SB,Walsh T,Lee MK,Loeb KR,Gulsuner S,Pritchard CC,Sanchez-Bonilla M,Delrow JJ,Basom RS,Forouhar M,Gyurkocza B,Schwartz BS,Neistadt B,Marquez R,Mariani CJ,Coats SA,Hofmann I,Lindsley RC,Wil

    更新日期：2015-02-01 00:00:00

  • Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.

    abstract：:We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...

    journal_title：Nature genetics

    pub_type： 信件

    doi：10.1038/ng.421

    authors： Wu X,Ye Y,Kiemeney LA,Sulem P,Rafnar T,Matullo G,Seminara D,Yoshida T,Saeki N,Andrew AS,Dinney CP,Czerniak B,Zhang ZF,Kiltie AE,Bishop DT,Vineis P,Porru S,Buntinx F,Kellen E,Zeegers MP,Kumar R,Rudnai P,Gurzau

    更新日期：2009-09-01 00:00:00

  • Structural diversity and African origin of the 17q21.31 inversion polymorphism.

    abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2335

    authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

    更新日期：2012-07-01 00:00:00

  • Loss of Cdk4 expression causes insulin-deficient diabetes and Cdk4 activation results in beta-islet cell hyperplasia.

    abstract：:To ascertain the role of cyclin-dependent kinase 4 (Cdk4) in vivo, we have targeted the mouse Cdk4 locus by homologous recombination to generate two strains of mice, one that lacks Cdk4 expression and one that expresses a Cdk4 molecule with an activating mutation. Embryonic fibroblasts proliferate normally in the abse...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/8751

    authors： Rane SG,Dubus P,Mettus RV,Galbreath EJ,Boden G,Reddy EP,Barbacid M

    更新日期：1999-05-01 00:00:00

  • Indian hedgehog is a major mediator of progesterone signaling in the mouse uterus.

    abstract：:The hedgehog family of morphogens are regulators of cell proliferation, differentiation and cell-cell communication. These morphogens have been shown to have important roles in organogenesis, spermatogenesis, stem cell maintenance and oncogenesis. Indian hedgehog (encoded by Ihh) has been shown to be expressed in the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1874

    authors： Lee K,Jeong J,Kwak I,Yu CT,Lanske B,Soegiarto DW,Toftgard R,Tsai MJ,Tsai S,Lydon JP,DeMayo FJ

    更新日期：2006-10-01 00:00:00

  • Another piece of the autism puzzle.

    abstract：:A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng0610-478

    authors： State MW

    更新日期：2010-06-01 00:00:00

  • An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma.

    abstract：:Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3502

    authors： Drier Y,Cotton MJ,Williamson KE,Gillespie SM,Ryan RJ,Kluk MJ,Carey CD,Rodig SJ,Sholl LM,Afrogheh AH,Faquin WC,Queimado L,Qi J,Wick MJ,El-Naggar AK,Bradner JE,Moskaluk CA,Aster JC,Knoechel B,Bernstein BE

    更新日期：2016-03-01 00:00:00

  • Pleiotropic fitness effects of the Tre1-Gr5a region in Drosophila melanogaster.

    abstract：:The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1823

    authors： Rollmann SM,Magwire MM,Morgan TJ,Ozsoy ED,Yamamoto A,Mackay TF,Anholt RR

    更新日期：2006-07-01 00:00:00