A haplotype map of the human genome.

Abstract:

:Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.

journal_name

Nature

journal_title

Nature

authors

International HapMap Consortium.

doi

10.1038/nature04226

keywords:

subject

Has Abstract

pub_date

2005-10-27 00:00:00

pages

1299-320

issue

7063

eissn

0028-0836

issn

1476-4687

journal_volume

437

pub_type

杂志文章

相关文献

NATURE文献大全
  • Prevention of tuberculosis in macaques after intravenous BCG immunization.

    abstract::Mycobacterium tuberculosis (Mtb) is the leading cause of death from infection worldwide1. The only available vaccine, BCG (Bacillus Calmette-Guérin), is given intradermally and has variable efficacy against pulmonary tuberculosis, the major cause of mortality and disease transmission1,2. Here we show that intravenous ...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/s41586-019-1817-8

    authors: Darrah PA,Zeppa JJ,Maiello P,Hackney JA,Wadsworth MH 2nd,Hughes TK,Pokkali S,Swanson PA 2nd,Grant NL,Rodgers MA,Kamath M,Causgrove CM,Laddy DJ,Bonavia A,Casimiro D,Lin PL,Klein E,White AG,Scanga CA,Shalek AK,Roede

    更新日期:2020-01-01 00:00:00

  • Endosymbiotic sulphate-reducing and sulphide-oxidizing bacteria in an oligochaete worm.

    abstract::Stable associations of more than one species of symbiont within a single host cell or tissue are assumed to be rare in metazoans because competition for space and resources between symbionts can be detrimental to the host. In animals with multiple endosymbionts, such as mussels from deep-sea hydrothermal vents and ree...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/35077067

    authors: Dubilier N,Mülders C,Ferdelman T,de Beer D,Pernthaler A,Klein M,Wagner M,Erséus C,Thiermann F,Krieger J,Giere O,Amann R

    更新日期:2001-05-17 00:00:00

  • A natural variant and engineered mutation in a GPCR promote DEET resistance in C. elegans.

    abstract::DEET (N,N-diethyl-meta-toluamide) is a synthetic chemical identified by the US Department of Agriculture in 1946 in a screen for repellents to protect soldiers from mosquito-borne diseases1,2. Since its discovery, DEET has become the world's most widely used arthropod repellent and is effective against invertebrates s...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/s41586-018-0546-8

    authors: Dennis EJ,Dobosiewicz M,Jin X,Duvall LB,Hartman PS,Bargmann CI,Vosshall LB

    更新日期:2018-10-01 00:00:00

  • Massive star formation within the Leo 'primordial' ring.

    abstract::Few intergalactic, plausibly primordial clouds of neutral atomic hydrogen (H(i)) have been found in the local Universe, suggesting that such structures have either dispersed, become ionized or produced a stellar population on gigayear timescales. The Leo ring, a massive (M(H(i)) approximately 1.8 x 10(9)M[symbol: see ...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature07780

    authors: Thilker DA,Donovan J,Schiminovich D,Bianchi L,Boissier S,de Paz AG,Madore BF,Martin DC,Seibert M

    更新日期:2009-02-19 00:00:00

  • Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

    abstract::Acquired uniparental disomy (aUPD) is a common feature of cancer genomes, leading to loss of heterozygosity. aUPD is associated not only with loss-of-function mutations of tumour suppressor genes, but also with gain-of-function mutations of proto-oncogenes. Here we show unique gain-of-function mutations of the C-CBL (...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature08240

    authors: Sanada M,Suzuki T,Shih LY,Otsu M,Kato M,Yamazaki S,Tamura A,Honda H,Sakata-Yanagimoto M,Kumano K,Oda H,Yamagata T,Takita J,Gotoh N,Nakazaki K,Kawamata N,Onodera M,Nobuyoshi M,Hayashi Y,Harada H,Kurokawa M,Chiba

    更新日期:2009-08-13 00:00:00

  • B220: a B cell-specific member of th T200 glycoprotein family.

    abstract::T200, a major cell-surface glycoprotein on lymphoid cells, exists in several forms with different electrophoretic mobilities. These forms have been correlated with different classes of lymphoid cell. The smaller forms, with molecular weights (MWs) of congruent to 170,000 and 180,000 are found predominantly on T cells ...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/289681a0

    authors: Coffman RL,Weissman IL

    更新日期:1981-02-19 00:00:00

  • Mutational landscape and significance across 12 major cancer types.

    abstract::The Cancer Genome Atlas (TCGA) has used the latest sequencing and analysis methods to identify somatic variants across thousands of tumours. Here we present data and analytical results for point mutations and small insertions/deletions from 3,281 tumours across 12 tumour types as part of the TCGA Pan-Cancer effort. We...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature12634

    authors: Kandoth C,McLellan MD,Vandin F,Ye K,Niu B,Lu C,Xie M,Zhang Q,McMichael JF,Wyczalkowski MA,Leiserson MDM,Miller CA,Welch JS,Walter MJ,Wendl MC,Ley TJ,Wilson RK,Raphael BJ,Ding L

    更新日期:2013-10-17 00:00:00

  • Mastering the game of Go without human knowledge.

    abstract::A long-standing goal of artificial intelligence is an algorithm that learns, tabula rasa, superhuman proficiency in challenging domains. Recently, AlphaGo became the first program to defeat a world champion in the game of Go. The tree search in AlphaGo evaluated positions and selected moves using deep neural networks....

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature24270

    authors: Silver D,Schrittwieser J,Simonyan K,Antonoglou I,Huang A,Guez A,Hubert T,Baker L,Lai M,Bolton A,Chen Y,Lillicrap T,Hui F,Sifre L,van den Driessche G,Graepel T,Hassabis D

    更新日期:2017-10-18 00:00:00

  • Isolation of a cDNA encoding the vascular type-1 angiotensin II receptor.

    abstract::Angiotensin II is an important effector molecule controlling blood pressure and volume in the cardiovascular system. Its importance is manifested by the efficacy of angiotensin-converting enzyme inhibitors in the treatment of hypertension and congestive heart failure. Angiotensin II interacts with two pharmacologicall...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/351233a0

    authors: Murphy TJ,Alexander RW,Griendling KK,Runge MS,Bernstein KE

    更新日期:1991-05-16 00:00:00

  • CAP defines a second signalling pathway required for insulin-stimulated glucose transport.

    abstract::Insulin stimulates the transport of glucose into fat and muscle cells. Although the precise molecular mechanisms involved in this process remain uncertain, insulin initiates its actions by binding to its tyrosine kinase receptor, leading to the phosphorylation of intracellular substrates. One such substrate is the Cbl...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/35025089

    authors: Baumann CA,Ribon V,Kanzaki M,Thurmond DC,Mora S,Shigematsu S,Bickel PE,Pessin JE,Saltiel AR

    更新日期:2000-09-14 00:00:00

  • Environmental predictors of pre-European deforestation on Pacific islands.

    abstract::Some Pacific island societies, such as those of Easter Island and Mangareva, inadvertently contributed to their own collapse by causing massive deforestation. Others retained forest cover and survived. How can those fateful differences be explained? Although the answers undoubtedly involve both different cultural resp...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature02801

    authors: Rolett B,Diamond J

    更新日期:2004-09-23 00:00:00

  • Molecular structure of F-actin and location of surface binding sites.

    abstract::Comparisons of three-dimensional maps of vertebrate muscle thin filaments obtained by cryo-electron microscopy and image analysis, reveal the molecular structure of F-actin, the location of the C terminus of the monomer and the positions of the binding sites of tropomyosin, the myosin head and the N-terminal portion o...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/348217a0

    authors: Milligan RA,Whittaker M,Safer D

    更新日期:1990-11-15 00:00:00

  • RNA editing as a source of genetic variation.

    abstract::Kinetoplastid RNA editing alters mitochondrial RNA transcripts by addition and deletion of uridine residues, producing open reading frames that may be twice as long as the original RNA. Although the COIII gene encoding cytochrome c oxidase subunit III in Trypanosoma brucei is edited along its entire length, the presum...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/363179a0

    authors: Landweber LF,Gilbert W

    更新日期:1993-05-13 00:00:00

  • Functional dissection of the yeast Cyc8-Tup1 transcriptional co-repressor complex.

    abstract::DNA-binding repressor proteins mediate regulation of yeast genes by cell type (Mcm1/alpha 2 and a1/alpha 2), glucose (Mig1) and oxygen (Rox1) (refs 1-4 respectively). An unusual feature of all these regulatory pathways is that transcriptional repression requires two physically associated proteins that do not bind DNA ...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/369758a0

    authors: Tzamarias D,Struhl K

    更新日期:1994-06-30 00:00:00

  • Protein degradation and protection against misfolded or damaged proteins.

    abstract::The ultimate mechanism that cells use to ensure the quality of intracellular proteins is the selective destruction of misfolded or damaged polypeptides. In eukaryotic cells, the large ATP-dependent proteolytic machine, the 26S proteasome, prevents the accumulation of non-functional, potentially toxic proteins. This pr...

    journal_title:Nature

    pub_type: 杂志文章,评审

    doi:10.1038/nature02263

    authors: Goldberg AL

    更新日期:2003-12-18 00:00:00

  • Doubling of marine dinitrogen-fixation rates based on direct measurements.

    abstract::Biological dinitrogen fixation provides the largest input of nitrogen to the oceans, therefore exerting important control on the ocean's nitrogen inventory and primary productivity. Nitrogen-isotope data from ocean sediments suggest that the marine-nitrogen inventory has been balanced for the past 3,000 years (ref. 4)...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature11338

    authors: Großkopf T,Mohr W,Baustian T,Schunck H,Gill D,Kuypers MM,Lavik G,Schmitz RA,Wallace DW,LaRoche J

    更新日期:2012-08-16 00:00:00

  • Enhanced electrocatalytic CO2 reduction via field-induced reagent concentration.

    abstract::Electrochemical reduction of carbon dioxide (CO2) to carbon monoxide (CO) is the first step in the synthesis of more complex carbon-based fuels and feedstocks using renewable electricity. Unfortunately, the reaction suffers from slow kinetics owing to the low local concentration of CO2 surrounding typical CO2 reductio...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature19060

    authors: Liu M,Pang Y,Zhang B,De Luna P,Voznyy O,Xu J,Zheng X,Dinh CT,Fan F,Cao C,de Arquer FP,Safaei TS,Mepham A,Klinkova A,Kumacheva E,Filleter T,Sinton D,Kelley SO,Sargent EH

    更新日期:2016-09-15 00:00:00

  • Elevated UV-B radiation reduces genome stability in plants.

    abstract::Long-term depletion of the stratospheric ozone layer contributes to an increase in terrestrial solar ultraviolet-B radiation. This has deleterious effects on living organisms, such as DNA damage. When exposed to elevated ultraviolet-B radiation (UV-B; 280-315 nm), plants display a wide variety of physiological and mor...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/35017595

    authors: Ries G,Heller W,Puchta H,Sandermann H,Seidlitz HK,Hohn B

    更新日期:2000-07-06 00:00:00

  • Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4.

    abstract::The kidney has been widely exploited as a model system for the study of tissue inductions regulating vertebrate organogenesis. Kidney development is initiated by the ingrowth of the Wolfian duct-derived ureteric bud into the presumptive kidney mesenchyme. In response to a signal from the ureter, mesenchymal cells cond...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/372679a0

    authors: Stark K,Vainio S,Vassileva G,McMahon AP

    更新日期:1994-12-15 00:00:00

  • Increased dissolved oxygen in Pacific intermediate waters due to lower rates of carbon oxidation in sediments.

    abstract::Concentrations of dissolved oxygen in the ocean seem to correlate well with climate instabilities over the past 100,000 years. For example, the concentration of dissolved oxygen in Pacific intermediate waters was considerably higher during Pleistocene glacial periods than it is today. This has been inferred from the p...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/35030084

    authors: Stott LD,Berelson W,Douglas R,Gorsline D

    更新日期:2000-09-21 00:00:00

  • Emergence of a molecular Bose-Einstein condensate from a Fermi gas.

    abstract::The realization of superfluidity in a dilute gas of fermionic atoms, analogous to superconductivity in metals, represents a long-standing goal of ultracold gas research. In such a fermionic superfluid, it should be possible to adjust the interaction strength and tune the system continuously between two limits: a Barde...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature02199

    authors: Greiner M,Regal CA,Jin DS

    更新日期:2003-12-04 00:00:00

  • Brain and other nervous system disorders across the lifespan - global challenges and opportunities.

    abstract::This is an exciting time for scientific discovery that aims to reduce the frequency and impact of neurological, mental health and substance-use disorders. As it became increasingly clear that low- and middle-income countries have a disproportionate share of these disorders, and that many of the problems are best addre...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature16028

    authors: Silberberg D,Anand NP,Michels K,Kalaria RN

    更新日期:2015-11-19 00:00:00

  • N-glycans as apical sorting signals in epithelial cells.

    abstract::In epithelial Madin-Darby canine kidney (MDCK) cells newly synthesized molecules are sorted in the trans-Golgi network and directly delivered to their apical and basolateral surface destinations. Sorting is mediated by signals in the cytoplasmic domains of basolateral transmembrane proteins whereas glycosylphosphatidy...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/378096a0

    authors: Scheiffele P,Peränen J,Simons K

    更新日期:1995-11-02 00:00:00

  • An integrated model of kimberlite ascent and eruption.

    abstract::Diatremes are carrot-shaped bodies forming the upper parts of very deep magmatic intrusions of kimberlite rock. These unusual, enigmatic and complex features are famous as the source of diamonds. Here we present a new model of kimberlite ascent and eruption, emphasizing the extremely unsteady nature of this process to...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature05692

    authors: Wilson L,Head Iii JW 3rd

    更新日期:2007-05-03 00:00:00

  • Orbital forcing of Cretaceous river discharge in tropical Africa and ocean response.

    abstract::The tropics have been suggested as the drivers of global ocean and atmosphere circulation and biogeochemical cycling during the extreme warmth of the Cretaceous period; but the links between orbital forcing, freshwater runoff and the biogeochemistry of continental margins in extreme greenhouse conditions are not fully...

    journal_title:Nature

    pub_type: 历史文章,杂志文章

    doi:10.1038/nature03976

    authors: Beckmann B,Flögel S,Hofmann P,Schulz M,Wagner T

    更新日期:2005-09-08 00:00:00

  • Quadrupole transitions revealed by Borrmann spectroscopy.

    abstract::The Borrmann effect-a dramatic increase in transparency to X-ray beams-is observed when X-rays satisfying Bragg's law diffract through a perfect crystal. The minimization of absorption seen in the Borrmann effect has been explained by noting that the electric field of the X-ray beam approaches zero amplitude at the cr...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature07099

    authors: Pettifer RF,Collins SP,Laundy D

    更新日期:2008-07-10 00:00:00

  • Autonomous regulation of the anaphase-promoting complex couples mitosis to S-phase entry.

    abstract::Oscillations in cyclin-dependent kinase (CDK) activity drive the somatic cell cycle. After entry into mitosis, CDKs activate the anaphase-promoting complex (APC), which then promotes cyclin degradation and mitotic exit. The re-accumulation of cyclin A causes the inactivation of APC and entry into S phase, but how cycl...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/nature03023

    authors: Rape M,Kirschner MW

    更新日期:2004-12-02 00:00:00

  • Regulation and deregulation of cardiac Na(+)-Ca2+ exchange in giant excised sarcolemmal membrane patches.

    abstract::A plasmalemmal Na(+)-Ca2+ exchange mechanism is an important electrogenic determinant of contractility in cardiac cells. As in other cell types, calcium influx by Na(+)-Ca2+ exchange is secondarily activated by cytoplasmic calcium and probably ATP, but these modulatory mechanisms are either absent or altered in isolat...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/344242a0

    authors: Hilgemann DW

    更新日期:1990-03-15 00:00:00

  • Neurons derived from radial glial cells establish radial units in neocortex.

    abstract::The neocortex of the adult brain consists of neurons and glia that are generated by precursor cells of the embryonic ventricular zone. In general, glia are generated after neurons during development, but radial glia are an exception to this rule. Radial glia are generated before neurogenesis and guide neuronal migrati...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/35055553

    authors: Noctor SC,Flint AC,Weissman TA,Dammerman RS,Kriegstein AR

    更新日期:2001-02-08 00:00:00

  • Style self-incompatibility gene products of Nicotiana alata are ribonucleases.

    abstract::Self-incompatibility in flowering plants is often controlled by a single nuclear gene (the S-gene) having several alleles. This gene prevents fertilization by self-pollen or by pollen bearing either of the two S-alleles expressed in the style. Sequence analysis shows that three alleles of the S gene of Nicotiana alata...

    journal_title:Nature

    pub_type: 杂志文章

    doi:10.1038/342955a0

    authors: McClure BA,Haring V,Ebert PR,Anderson MA,Simpson RJ,Sakiyama F,Clarke AE

    更新日期:1989-12-21 00:00:00