当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Female embryonic lethality in mice nullizygous for both Msh2 and p53.

Female embryonic lethality in mice nullizygous for both Msh2 and p53.

Abstract：

:The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the Escherichia coli MutHLS system, which contribute to genomic stability by surveillance and repair of replication misincorporation errors and exogenous DNA damage. Mutations in one of these MMR genes, hMSH2, account for about half of all cases of genetically linked hereditary non-polyposis colorectal cancer. Loss of function of p53 has also been proposed to increase cellular hypermutability, thereby accelerating carcinogenesis, although a clear role for p53 in genomic instability remains controversial. p53 is mutated frequently in a wide range of human cancers, including colonic tumours. Both Msh2- and p53-targeted knockout mice are viable and susceptible to cancer. Here we demonstrate that combined Msh2 and p53 ablation (Msh2-/-p53-/-) results in developmental arrest of all female embryos at 9.5 days. In contrast, male Msh2-/-p53-/- mice are viable, but succumb to tumours significantly earlier (t1-2 is 73 days) than either Msh2-/- or p53-/- littermates. Furthermore, the frequency of microsatellite instability (MSI) in tumours from Msh2-/-p53-/- mice is not significantly different than in Msh2-/- mice. Synergism in tumorigenesis and independent segregation of the MSI phenotype suggest that Msh2 and p53 are not genetically epistatic.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Cranston A,Bocker T,Reitmair A,Palazzo J,Wilson T,Mak T,Fishel R

doi

10.1038/ng0997-114

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

114-8

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

17

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

    abstract：:The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the gr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0195-31

    authors： Andrikopoulos K,Liu X,Keene DR,Jaenisch R,Ramirez F

    更新日期：1995-01-01 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

  • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

    abstract：:Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected f...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0897-345

    authors： Koutnikova H,Campuzano V,Foury F,Dollé P,Cazzalini O,Koenig M

    更新日期：1997-08-01 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

  • Massive genomic variation and strong selection in Arabidopsis thaliana lines from Sweden.

    abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2678

    authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

    更新日期：2013-08-01 00:00:00

  • PRC1 proteins orchestrate three-dimensional genome architecture.

    abstract：:The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng.3411

    authors： Cavalli G

    更新日期：2015-10-01 00:00:00

  • Zinc transport and diabetes risk.

    abstract：:Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabete...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.2934

    authors： Pearson E

    更新日期：2014-04-01 00:00:00

  • Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1.

    abstract：:The basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0398-266

    authors： Firulli AB,McFadden DG,Lin Q,Srivastava D,Olson EN

    更新日期：1998-03-01 00:00:00

  • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.

    abstract：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/85845

    authors： Jerome LA,Papaioannou VE

    更新日期：2001-03-01 00:00:00

  • The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.

    abstract：:We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atheroscleros...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1245

    authors： Gretarsdottir S,Thorleifsson G,Reynisdottir ST,Manolescu A,Jonsdottir S,Jonsdottir T,Gudmundsdottir T,Bjarnadottir SM,Einarsson OB,Gudjonsdottir HM,Hawkins M,Gudmundsson G,Gudmundsdottir H,Andrason H,Gudmundsdottir AS,Sigur

    更新日期：2003-10-01 00:00:00

  • Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

    abstract：:Loss of tight association between epidermis and dermis underlies several blistering disorders and is frequently caused by impaired function of extracellular matrix (ECM) proteins. Here we describe a new protein in mouse, Fras1, that is specifically detected in a linear fashion underlying the epidermis and the basal su...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1168

    authors： Vrontou S,Petrou P,Meyer BI,Galanopoulos VK,Imai K,Yanagi M,Chowdhury K,Scambler PJ,Chalepakis G

    更新日期：2003-06-01 00:00:00

  • Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

    abstract：:Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) has recently been defined based on a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. LBSL is an autosomal recessive disease, most often manifesting in early childho...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2013

    authors： Scheper GC,van der Klok T,van Andel RJ,van Berkel CG,Sissler M,Smet J,Muravina TI,Serkov SV,Uziel G,Bugiani M,Schiffmann R,Krägeloh-Mann I,Smeitink JA,Florentz C,Van Coster R,Pronk JC,van der Knaap MS

    更新日期：2007-04-01 00:00:00

  • Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

    abstract：:Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unkno...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng985

    authors： Kondo S,Schutte BC,Richardson RJ,Bjork BC,Knight AS,Watanabe Y,Howard E,de Lima RL,Daack-Hirsch S,Sander A,McDonald-McGinn DM,Zackai EH,Lammer EJ,Aylsworth AS,Ardinger HH,Lidral AC,Pober BR,Moreno L,Arcos-Burgos M,V

    更新日期：2002-10-01 00:00:00

  • Convergent evolution of the genomes of marine mammals.

    abstract：:Marine mammals from different mammalian orders share several phenotypic traits adapted to the aquatic environment and therefore represent a classic example of convergent evolution. To investigate convergent evolution at the genomic level, we sequenced and performed de novo assembly of the genomes of three species of m...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3198

    authors： Foote AD,Liu Y,Thomas GW,Vinař T,Alföldi J,Deng J,Dugan S,van Elk CE,Hunter ME,Joshi V,Khan Z,Kovar C,Lee SL,Lindblad-Toh K,Mancia A,Nielsen R,Qin X,Qu J,Raney BJ,Vijay N,Wolf JB,Hahn MW,Muzny DM,Worley KC,

    更新日期：2015-03-01 00:00:00

  • From mRNA to tumor suppressor.

    abstract：:The combination of inhibition of RNA degradation and comparative genomic scanning is a powerful new method for detecting gene disruptions. The utility of the method is well-illustrated by a series of observations linking the ephrin receptor EPHB2 to prostate cancer. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng0904-937

    authors： Mercola D,Welsh J

    更新日期：2004-09-01 00:00:00

  • Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

    abstract：:Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/81551

    authors： Niemann S,Müller U

    更新日期：2000-11-01 00:00:00

  • Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

    abstract：:Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3878

    authors： Tchasovnikarova IA,Timms RT,Douse CH,Roberts RC,Dougan G,Kingston RE,Modis Y,Lehner PJ

    更新日期：2017-07-01 00:00:00

  • Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

    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

    authors： Kulkens T,Bolhuis PA,Wolterman RA,Kemp S,te Nijenhuis S,Valentijn LJ,Hensels GW,Jennekens FG,de Visser M,Hoogendijk JE

    更新日期：1993-09-01 00:00:00

  • Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

    abstract：:We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions sur...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0081-4

    authors： Finucane HK,Reshef YA,Anttila V,Slowikowski K,Gusev A,Byrnes A,Gazal S,Loh PR,Lareau C,Shoresh N,Genovese G,Saunders A,Macosko E,Pollack S,Brainstorm Consortium.,Perry JRB,Buenrostro JD,Bernstein BE,Raychaudhuri S,M

    更新日期：2018-04-01 00:00:00

  • Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

    abstract：:Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bi...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.380

    authors： Jaglin XH,Poirier K,Saillour Y,Buhler E,Tian G,Bahi-Buisson N,Fallet-Bianco C,Phan-Dinh-Tuy F,Kong XP,Bomont P,Castelnau-Ptakhine L,Odent S,Loget P,Kossorotoff M,Snoeck I,Plessis G,Parent P,Beldjord C,Cardoso C,Repr

    更新日期：2009-06-01 00:00:00

  • Publisher Correction: Eggs sense high-fat diet.

    abstract：:In the version of this article originally published, a box was misplaced in Fig. 1. The error has been corrected in the HTML and PDF versions of the article. ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-018-0137-5

    authors： Leitch HG,Hajkova P

    更新日期：2018-08-01 00:00:00

  • Wt1 is required for cardiovascular progenitor cell formation through transcriptional control of Snail and E-cadherin.

    abstract：:The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.494

    authors： Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

    更新日期：2010-01-01 00:00:00

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

    abstract：:We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1718

    authors： Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerrière A,Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M,Dubas F,Frebourg T,Campion D

    更新日期：2006-01-01 00:00:00

  • RAF1 mutations in childhood-onset dilated cardiomyopathy.

    abstract：:Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2963

    authors： Dhandapany PS,Razzaque MA,Muthusami U,Kunnoth S,Edwards JJ,Mulero-Navarro S,Riess I,Pardo S,Sheng J,Rani DS,Rani B,Govindaraj P,Flex E,Yokota T,Furutani M,Nishizawa T,Nakanishi T,Robbins J,Limongelli G,Hajjar RJ,L

    更新日期：2014-06-01 00:00:00

  • Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

    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

    authors： Gurrieri F,Trask BJ,van den Engh G,Krauss CM,Schinzel A,Pettenati MJ,Schindler D,Dietz-Band J,Vergnaud G,Scherer SW

    更新日期：1993-03-01 00:00:00

  • Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

    abstract：:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL ha...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/77153

    authors： Paloneva J,Kestilä M,Wu J,Salminen A,Böhling T,Ruotsalainen V,Hakola P,Bakker AB,Phillips JH,Pekkarinen P,Lanier LL,Timonen T,Peltonen L

    更新日期：2000-07-01 00:00:00

  • A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients.

    abstract：:It is generally assumed that the male:female (M:F) ratio in patients with type 1 (insulin-dependent) diabetes mellitus (IDDM) is 1. A recent survey, however, revealed that high incidence countries (mainly European) have a high M:F ratio and low incidence ones (Asian and African) have a low M:F ratio. We have now analy...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/995

    authors： Cucca F,Goy JV,Kawaguchi Y,Esposito L,Merriman ME,Wilson AJ,Cordell HJ,Bain SC,Todd JA

    更新日期：1998-07-01 00:00:00

  • Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.

    abstract：:Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0895-483

    authors： Lugenbeel KA,Peier AM,Carson NL,Chudley AE,Nelson DL

    更新日期：1995-08-01 00:00:00

  • Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

    abstract：:Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multiprotein complex. Caspase-1 mediates the pro...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3066

    authors： Romberg N,Al Moussawi K,Nelson-Williams C,Stiegler AL,Loring E,Choi M,Overton J,Meffre E,Khokha MK,Huttner AJ,West B,Podoltsev NA,Boggon TJ,Kazmierczak BI,Lifton RP

    更新日期：2014-10-01 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