当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Embryonic retinoic acid synthesis is essential for early mouse post-implantation development.

Embryonic retinoic acid synthesis is essential for early mouse post-implantation development.

Abstract：

:A number of studies have suggested that the active derivative of vitamin A, retinoic acid (RA), may be important for early development of mammalian embryos. Severe vitamin A deprivation in rodents results in maternal infertility, precluding a thorough investigation of the role of RA during embryogenesis. Here we show that production of RA by the retinaldehyde dehydrogenase-2 (Raldh2) enzyme is required for mouse embryo survival and early morphogenesis. Raldh2 is an NAD-dependent aldehyde dehydrogenase with high substrate specificity for retinaldehyde. Its pattern of expression during mouse development has suggested that it may be responsible for embryonic RA synthesis. We generated a targeted disruption of the mouse Raldh2 gene and found that Raldh2-/- embryos, which die at midgestation without undergoing axial rotation (body turning), exhibit shortening along the anterioposterior axis and do not form limb buds. Their heart consists of a single, medial, dilated cavity. Their frontonasal region is truncated and their otocysts are severely reduced. These defects result from a block in embryonic RA synthesis, as shown by the lack of activity of RA-responsive transgenes, the altered expression of an RA-target homeobox gene and the near full rescue of the mutant phenotype by maternal RA administration. Our data establish that RA synthesized by the post-implantation mammalian embryo is an essential developmental hormone whose lack leads to early embryo death.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Niederreither K,Subbarayan V,Dollé P,Chambon P

doi

10.1038/7788

keywords:

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

444-8

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

21

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.

    abstract：:Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fract...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1192-204

    authors： Hästbacka J,de la Chapelle A,Kaitila I,Sistonen P,Weaver A,Lander E

    更新日期：1992-11-01 00:00:00

  • Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.

    abstract：:No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3380

    authors： Saliba J,Saint-Martin C,Di Stefano A,Lenglet G,Marty C,Keren B,Pasquier F,Valle VD,Secardin L,Leroy G,Mahfoudhi E,Grosjean S,Droin N,Diop M,Dessen P,Charrier S,Palazzo A,Merlevede J,Meniane JC,Delaunay-Darivon C,F

    更新日期：2015-10-01 00:00:00

  • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

    abstract：:The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attem...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2068

    authors： Todd JA,Walker NM,Cooper JD,Smyth DJ,Downes K,Plagnol V,Bailey R,Nejentsev S,Field SF,Payne F,Lowe CE,Szeszko JS,Hafler JP,Zeitels L,Yang JH,Vella A,Nutland S,Stevens HE,Schuilenburg H,Coleman G,Maisuria M,Meado

    更新日期：2007-07-01 00:00:00

  • A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish.

    abstract：:The most characteristic features of bipolar affective disorder (manic-depressive illness) are episodes of mania (bipolar I, BPI) or hypomania (bipolar II, BPII) interspersed with periods of depression. Manic-depressive illness afflicts about one percent of the population, and if untreated, is associated with an approx...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0496-431

    authors： Ginns EI,Ott J,Egeland JA,Allen CR,Fann CS,Pauls DL,Weissenbachoff J,Carulli JP,Falls KM,Keith TP,Paul SM

    更新日期：1996-04-01 00:00:00

  • Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice.

    abstract：:Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithel...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0992-13

    authors： Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

    更新日期：1992-09-01 00:00:00

  • Homology-based annotation yields 1,042 new candidate genes in the Drosophila melanogaster genome.

    abstract：:The approach to annotating a genome critically affects the number and accuracy of genes identified in the genome sequence. Genome annotation based on stringent gene identification is prone to underestimate the complement of genes encoded in a genome. In contrast, over-prediction of putative genes followed by exhaustiv...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/85922

    authors： Gopal S,Schroeder M,Pieper U,Sczyrba A,Aytekin-Kurban G,Bekiranov S,Fajardo JE,Eswar N,Sanchez R,Sali A,Gaasterland T

    更新日期：2001-03-01 00:00:00

  • Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs.

    abstract：:Antimalarial drugs impose strong selective pressure on Plasmodium falciparum parasites and leave signatures of selection in the parasite genome; screening for genes under selection may suggest potential drug or immune targets. Genome-wide association studies (GWAS) of parasite traits have been hampered by the lack of ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.528

    authors： Mu J,Myers RA,Jiang H,Liu S,Ricklefs S,Waisberg M,Chotivanich K,Wilairatana P,Krudsood S,White NJ,Udomsangpetch R,Cui L,Ho M,Ou F,Li H,Song J,Li G,Wang X,Seila S,Sokunthea S,Socheat D,Sturdevant DE,Porcella SF

    更新日期：2010-03-01 00:00:00

  • iASPP oncoprotein is a key inhibitor of p53 conserved from worm to human.

    abstract：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1070

    authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

    更新日期：2003-02-01 00:00:00

  • Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

    abstract：:Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, incl...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2356

    authors： Koenekoop RK,Wang H,Majewski J,Wang X,Lopez I,Ren H,Chen Y,Li Y,Fishman GA,Genead M,Schwartzentruber J,Solanki N,Traboulsi EI,Cheng J,Logan CV,McKibbin M,Hayward BE,Parry DA,Johnson CA,Nageeb M,Finding of Rare Dis

    更新日期：2012-09-01 00:00:00

  • Meristems take their cues from organ primordia.

    abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3601

    authors： Strable J,Scanlon MJ

    更新日期：2016-06-28 00:00:00

  • Systematic assessment of copy number variant detection via genome-wide SNP genotyping.

    abstract：:SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.236

    authors： Cooper GM,Zerr T,Kidd JM,Eichler EE,Nickerson DA

    更新日期：2008-10-01 00:00:00

  • RPA regulates telomerase action by providing Est1p access to chromosome ends.

    abstract：:Replication protein A (RPA) is a highly conserved single-stranded DNA-binding protein involved in DNA replication, recombination and repair. We show here that RPA is present at the telomeres of the budding yeast Saccharomyces cerevisiae, with a maximal association in S phase. A truncation of the N-terminal region of R...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1284

    authors： Schramke V,Luciano P,Brevet V,Guillot S,Corda Y,Longhese MP,Gilson E,Géli V

    更新日期：2004-01-01 00:00:00

  • R-spondin1 is essential in sex determination, skin differentiation and malignancy.

    abstract：:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1907

    authors： Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

    更新日期：2006-11-01 00:00:00

  • Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

    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

    authors： McKay JD,Hung RJ,Han Y,Zong X,Carreras-Torres R,Christiani DC,Caporaso NE,Johansson M,Xiao X,Li Y,Byun J,Dunning A,Pooley KA,Qian DC,Ji X,Liu G,Timofeeva MN,Bojesen SE,Wu X,Le Marchand L,Albanes D,Bickeböller H

    更新日期：2017-07-01 00:00:00

  • A murine model of Menkes disease reveals a physiological function of metallothionein.

    abstract：:Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a fe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0696-219

    authors： Kelly EJ,Palmiter RD

    更新日期：1996-06-01 00:00:00

  • Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M.

    abstract：:Normal mammalian development requires a diploid combination of both haploid parental genomes. Uniparental disomy for certain segments of specific chromosomes results in aberrant development or prenatal lethality, indicating that the parental genomes have undergone modifications during gametogenesis. These modification...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0996-106

    authors： Plass C,Shibata H,Kalcheva I,Mullins L,Kotelevtseva N,Mullins J,Kato R,Sasaki H,Hirotsune S,Okazaki Y,Held WA,Hayashizaki Y,Chapman VM

    更新日期：1996-09-01 00:00:00

  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

    abstract：:Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 ad...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.686

    authors： Speliotes EK,Willer CJ,Berndt SI,Monda KL,Thorleifsson G,Jackson AU,Lango Allen H,Lindgren CM,Luan J,Mägi R,Randall JC,Vedantam S,Winkler TW,Qi L,Workalemahu T,Heid IM,Steinthorsdottir V,Stringham HM,Weedon MN,Wheel

    更新日期：2010-11-01 00:00:00

  • A taste of pineapple evolution through genome sequencing.

    abstract：:The genome sequence assembly of the highly heterozygous Ananas comosus and its varieties is an impressive technical achievement. The sequence opens the door to a greater understanding of pineapple morphology and evolution. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3450

    authors： Xu Q,Liu ZJ

    更新日期：2015-12-01 00:00:00

  • Canalization of development by microRNAs.

    abstract：:Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/ng1803

    authors： Hornstein E,Shomron N

    更新日期：2006-06-01 00:00:00

  • Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

    abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3761

    authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

    更新日期：2017-02-01 00:00:00

  • Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

    abstract：:Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.491

    authors： Veeriah S,Taylor BS,Meng S,Fang F,Yilmaz E,Vivanco I,Janakiraman M,Schultz N,Hanrahan AJ,Pao W,Ladanyi M,Sander C,Heguy A,Holland EC,Paty PB,Mischel PS,Liau L,Cloughesy TF,Mellinghoff IK,Solit DB,Chan TA

    更新日期：2010-01-01 00:00:00

  • No evidence of clonal somatic genetic alterations in cancer-associated fibroblasts from human breast and ovarian carcinomas.

    abstract：:There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.117

    authors： Qiu W,Hu M,Sridhar A,Opeskin K,Fox S,Shipitsin M,Trivett M,Thompson ER,Ramakrishna M,Gorringe KL,Polyak K,Haviv I,Campbell IG

    更新日期：2008-05-01 00:00:00

  • SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction.

    abstract：:Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1672

    authors： Hodges CA,Revenkova E,Jessberger R,Hassold TJ,Hunt PA

    更新日期：2005-12-01 00:00:00

  • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

    abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight trans...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1294-323

    authors： Bione S,Maestrini E,Rivella S,Mancini M,Regis S,Romeo G,Toniolo D

    更新日期：1994-12-01 00:00:00

  • Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2.

    abstract：:Human telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex required for the protection and replication of chromosome ends. One component of human telomeres is the TTAGGG repeat binding factor 1 (TRF1), a ubiquitously expressed protein, related to the protooncogene Myb, that is pres...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1097-231

    authors： Broccoli D,Smogorzewska A,Chong L,de Lange T

    更新日期：1997-10-01 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

  • The genetics of plant metabolism.

    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

    authors： Keurentjes JJ,Fu J,de Vos CH,Lommen A,Hall RD,Bino RJ,van der Plas LH,Jansen RC,Vreugdenhil D,Koornneef M

    更新日期：2006-07-01 00:00:00

  • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    abstract：:Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.872

    authors： Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

    更新日期：2011-07-03 00:00:00

  • A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

    abstract：:Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3417

    authors： Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

    更新日期：2015-12-01 00:00:00

  • A single natural nucleotide mutation alters bacterial pathogen host tropism.

    abstract：:The capacity of microbial pathogens to alter their host tropism leading to epidemics in distinct host species populations is a global public and veterinary health concern. To investigate the molecular basis of a bacterial host-switching event in a tractable host species, we traced the evolutionary trajectory of the co...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3219

    authors： Viana D,Comos M,McAdam PR,Ward MJ,Selva L,Guinane CM,González-Muñoz BM,Tristan A,Foster SJ,Fitzgerald JR,Penadés JR

    更新日期：2015-04-01 00:00:00