Abstract:
:Hereditary nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease. In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases. Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMS1 and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease.
journal_name
Naturejournal_title
Natureauthors
Nicolaides NC,Papadopoulos N,Liu B,Wei YF,Carter KC,Ruben SM,Rosen CA,Haseltine WA,Fleischmann RD,Fraser CMdoi
10.1038/371075a0subject
Has Abstract,Author List Incompletepub_date
1994-09-01 00:00:00pages
75-80issue
6492eissn
0028-0836issn
1476-4687journal_volume
371pub_type
杂志文章相关文献
NATURE文献大全abstract::Fusion of biological membranes is mediated by specific lipid-interacting proteins that induce the formation and expansion of an initial fusion pore. Here we report the crystal structure of the ectodomain of the Semliki Forest virus fusion glycoprotein E1 in its low-pH-induced trimeric form. E1 adopts a folded-back con...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature02239
更新日期:2004-01-22 00:00:00
abstract::Transection of a sensory nerve in adults results in profound abnormalities in sensory perception, even if the severed nerve is surgically repaired to facilitate accurate nerve regeneration. In marked contrast, fewer perceptual errors follow nerve transection and surgical repair in children. The basis for this superior...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/381069a0
更新日期:1996-05-02 00:00:00
abstract::The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial com...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature01262
更新日期:2002-12-05 00:00:00
abstract::Neutralizing antibody function provides a foundation for the efficacy of vaccines and therapies1-3. Here, using a robust in vitro Ebola virus (EBOV) pseudo-particle infection assay and a well-defined set of solid-phase assays, we describe a wide spectrum of antibody responses in a cohort of healthy survivors of the Si...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-03146-y
更新日期:2021-01-27 00:00:00
abstract::The crystal structure of the human p27Kip1 kinase inhibitory domain bound to the phosphorylated cyclin A-cyclin-dependent kinase 2 (Cdk2) complex has been determined at 2.3 angstrom. p27Kip1 binds the complex as an extended structure interacting with both cyclin A and Cdk2. On cyclin A, it binds in a groove formed by ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/382325a0
更新日期:1996-07-25 00:00:00
abstract::Infertility resulting from a severe defect in sperm production affects 2% of men worldwide. Of these men with azoospermia, the absence of sperm in semen, one in eight carry de novo deletions for a specific region of the Y chromosome. A candidate gene for the Y-chromosome azoospermia factor (AZF) has been identified an...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/381783a0
更新日期:1996-06-27 00:00:00
abstract::A pathological hallmark of Alzheimer's disease is the deposition of amyloid fibrils in the brain. The principal component of amyloid fibrils is beta/A4 amyloid protein, which can be generated by the aberrant processing of a large membrane-bound glycoprotein, the beta/A4 amyloid protein precursor (APP)3. To test whethe...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/359064a0
更新日期:1992-09-03 00:00:00
abstract::Mutations in phosphatase and tensin homologue (PTEN) or genomic alterations in the phosphatidylinositol-3-OH kinase-signalling pathway are the most common genetic alterations reported in human prostate cancer. However, the precise mechanism underlying how indolent tumours with PTEN alterations acquire metastatic poten...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature11674
更新日期:2013-01-10 00:00:00
abstract::Change history: In Fig. 1c of this Letter, the two graphs were duplicates. The right panel of Fig. 1c has been corrected online. ...
journal_title:Nature
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41586-018-0690-1
更新日期:2018-12-01 00:00:00
abstract::Most of the 470-million-year history of plants on land belongs to bryophytes, pteridophytes and gymnosperms, which eventually yielded to the ecological dominance by angiosperms 90 Myr ago. Our knowledge of angiosperm phylogeny, particularly the branching order of the earliest lineages, has recently been increased by t...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35054555
更新日期:2001-02-01 00:00:00
abstract::Dynein and its cofactor dynactin form a highly processive microtubule motor in the presence of an activating adaptor, such as BICD2. Different adaptors link dynein and dynactin to distinct cargoes. Here we use electron microscopy and single-molecule studies to show that adaptors can recruit a second dynein to dynactin...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature25462
更新日期:2018-02-07 00:00:00
abstract::Measurements of the cosmic microwave background (CMB) radiation can reveal with remarkable precision the conditions of the Universe when it was approximately 400,000 years old. The three most fundamental properties of the CMB are its frequency spectrum (which determines the temperature), and the fluctuations in both t...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature01271
更新日期:2002-12-19 00:00:00
abstract::The rare Egyptian vulture (Neophron percnopterus) stands out among the Old World vultures (Family Accipitridae) because of its brightly ornamented head, which is coloured yellow by carotenoid pigments, and its practice of feeding on faeces. Here we show that Egyptian vultures obtain these pigments from the excrement o...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/416807a
更新日期:2002-04-25 00:00:00
abstract::Cellulose is the major polysaccharide component of plant cell walls and is the most abundant organic compound on the planet. A number of bacterial and fungal organisms can use cellulose as a food source, possessing cellulases (cellobiohydrolases and endoglucanases) that can catalyse the hydrolysis of the beta-(1,4) gl...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/365362a0
更新日期:1993-09-23 00:00:00
abstract::A set of restriction fragments cloned into phage lambda vectors has allowed us to locate a site necessary for full rpoBC expression. We find that these genes for the two large subunits of RNA polymerase and the genes, rplL and rplJ, for two ribosomal proteins, form a single operon. ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/276033a0
更新日期:1978-11-02 00:00:00
abstract::We are in the enviable position of having two distinct drafts of the human genome sequence. Although gaps, errors, redundancy and incomplete annotation mean that individually each falls short of the ideal, many of these problems can be assessed by comparison. Here we present some comparative analyses of these drafts. ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35057055
更新日期:2001-02-15 00:00:00
abstract::The Altai region of Siberia was inhabited for parts of the Pleistocene by at least two groups of archaic hominins-Denisovans and Neanderthals. Denisova Cave, uniquely, contains stratified deposits that preserve skeletal and genetic evidence of both hominins, artefacts made from stone and other materials, and a range o...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/s41586-018-0843-2
更新日期:2019-01-01 00:00:00
abstract::Understanding brain circuits begins with an appreciation of their component parts - the cells. Although GABAergic interneurons are a minority population within the brain, they are crucial for the control of inhibition. Determining the diversity of these interneurons has been a central goal of neurobiologists, but this...
journal_title:Nature
pub_type: 杂志文章,评审
doi:10.1038/nature12983
更新日期:2014-01-16 00:00:00
abstract::Formation of electron pairs is essential to superconductivity. For conventional superconductors, tunnelling spectroscopy has established that pairing is mediated by bosonic modes (phonons); a peak in the second derivative of tunnel current d2I/dV2 corresponds to each phonon mode. For high-transition-temperature (high-...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature04973
更新日期:2006-08-03 00:00:00
abstract::In the absence of extraneously added template, standard preparations of Q beta replicase spontaneously synthesize RNA in vitro, possibly as a result of RNA contamination. Using special enzyme purifications, Sumper and Luce presented evidence that self-replicating RNA not present ab initio can grow out of 'template-fre...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/321089a0
更新日期:1986-05-01 00:00:00
abstract::Because monoclonal antibodies can recognize and bind to specific groups of atoms such as tumour antigens, they have promise for use in vivo as carriers of radionuclides, drugs or other appended molecules for diagnosis and treatment of disease. Attachment of metal ions to antibodies by means of bifunctional chelating a...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/316265a0
更新日期:1985-07-18 00:00:00
abstract::The ability of cells to form cell contacts, adhere to the extracellular matrix, change morphology, and migrate is essential for development, wound healing, metastasis, cell survival and the immune response. These events depend on the binding of integrin to the extracellular matrix, and assembly of focal adhesions, whi...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature01082
更新日期:2002-11-07 00:00:00
abstract::Most mitochondrial proteins are synthesized on cytoplasmic ribosomes and imported into mitochondria. The imported proteins are directed to one of four submitochondrial compartments--the outer mitochondrial membrane, the inner mitochondrial membrane, the intramembraneous space, or the matrix--where the protein then fun...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/417087a
更新日期:2002-05-02 00:00:00
abstract::Recognition of sweet, bitter and umami tastes requires the non-vesicular release from taste bud cells of ATP, which acts as a neurotransmitter to activate afferent neural gustatory pathways. However, how ATP is released to fulfil this function is not fully understood. Here we show that calcium homeostasis modulator 1 ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature11906
更新日期:2013-03-14 00:00:00
abstract::Cooperative binding, whereby an initial binding event facilitates the uptake of additional substrate molecules, is common in biological systems such as haemoglobin. It was recently shown that porous solids that exhibit cooperative binding have substantial energetic benefits over traditional adsorbents, but few guideli...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature23674
更新日期:2017-10-05 00:00:00
abstract::Binocular coordination of eye movements is essential for stereopsis (depth perception) and to prevent double vision. More than a century ago, Hering and Helmholtz debated the neural basis of binocular coordination. Helmholtz believed that each eye is controlled independently and that binocular coordination is learned....
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/31489
更新日期:1998-06-18 00:00:00
abstract::A connection between thunderstorms and the ionosphere has been hypothesized since the mid-1920s. Several mechanisms have been proposed to explain this connection, and evidence from modelling as well as various types of measurements demonstrate that lightning can interact with the lower ionosphere. It has been proposed...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature03638
更新日期:2005-06-09 00:00:00
abstract::Only 17% of 111 reef-building coral genera and none of the 18 coral families with reef-builders are considered endemic to the Atlantic, whereas the corresponding percentages for the Indo-west Pacific are 76% and 39%. These figures depend on the assumption that genera and families spanning the two provinces belong to t...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature02339
更新日期:2004-02-26 00:00:00
abstract::In the frog Xenopus, the somatic-type 5S ribosomal RNA genes are active in all cells; the oocyte-type 5S genes are active in oocytes but not in somatic cells. A new method of native gel electrophoresis resolves the two types of 5S RNA which are of the same length but different sequence. When somatic nuclei were inject...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/289461a0
更新日期:1981-02-05 00:00:00
abstract::Four-residue beta-turns and larger loop structures represent a significant fraction of globular protein surfaces and play an important role in determining the conformation and specificity of enzyme active sites and antibody-combining sites. Turns are an attractive starting point to develop protein design methods, as t...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/339073a0
更新日期:1989-05-04 00:00:00