Abstract:
:We have found that the imprinted H19 gene can be expressed either biallelically or monoallelically in the developing human placentae. H19 biallelic expression is confined to the placenta until 10 weeks of gestation, after which it becomes exclusively maternal, and does not affect allele-specificity or levels of IGF2 expression. The promoter region of H19 is hypomethylated at all stages of placental development, while the 3' portion shows progressive methylation of the paternal allele with gestation. Our observations demonstrate that the establishment of functional H19 imprinting occurs during the early development of the placenta and provide an opportunity to understand the mechanism by which the H19 primary imprint is manifested in somatic cells.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Jinno Y,Ikeda Y,Yun K,Maw M,Masuzaki H,Fukuda H,Inuzuka K,Fujishita A,Ohtani Y,Okimoto Tdoi
10.1038/ng0795-318subject
Has Abstract,Author List Incompletepub_date
1995-07-01 00:00:00pages
318-24issue
3eissn
1061-4036issn
1546-1718journal_volume
10pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3488
更新日期:2016-03-01 00:00:00
abstract::Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.302
更新日期:2009-02-01 00:00:00
abstract::We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0896-450
更新日期:1996-08-01 00:00:00
abstract::Gains and losses in DNA methylation are prominent features of mammalian cell types. To gain insight into the mechanisms that promote shifts in DNA methylation and contribute to changes in cell fate, including malignant transformation, we performed genome-wide mapping of 5-methylcytosine and 5-hydroxymethylcytosine in ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2836
更新日期:2014-01-01 00:00:00
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
更新日期:2003-02-01 00:00:00
abstract::Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng833
更新日期:2002-03-01 00:00:00
abstract::Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated wi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0797-307
更新日期:1997-07-01 00:00:00
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
更新日期:2002-10-01 00:00:00
abstract::We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant with enhanced apoptoti...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.103
更新日期:2008-04-01 00:00:00
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
更新日期:2018-11-01 00:00:00
abstract::Recent studies of human oocytes have demonstrated an enrichment for distal exchanges among meiosis I (MI) nondisjunction events and for proximal exchanges among meiosis II (MII) events. Our characterization of 103 cases of spontaneous X chromosome nondisjunction in Drosophila oocytes strongly parallels these observati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1296-406
更新日期:1996-12-01 00:00:00
abstract::Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely relat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2726
更新日期:2013-09-01 00:00:00
abstract::The electrocardiographic PR interval (or PQ interval) reflects atrial and atrioventricular nodal conduction, disturbances of which increase risk of atrial fibrillation. We report a meta-analysis of genome-wide association studies for PR interval from seven population-based European studies in the CHARGE Consortium: AG...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.517
更新日期:2010-02-01 00:00:00
abstract::In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-154
更新日期:1996-06-01 00:00:00
abstract::Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0496-6
更新日期:2019-10-01 00:00:00
abstract::Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethni...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.766
更新日期:2011-03-01 00:00:00
abstract::Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/1765
更新日期:1998-09-01 00:00:00
abstract::The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by as...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2232
更新日期:2012-03-25 00:00:00
abstract::Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/7727
更新日期:1999-04-01 00:00:00
abstract::A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng883
更新日期:2002-06-01 00:00:00
abstract::Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3661
更新日期:2016-10-01 00:00:00
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
更新日期:2015-12-01 00:00:00
abstract::Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creatin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1581
更新日期:2005-07-01 00:00:00
abstract::We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0501-21
更新日期:2001-05-01 00:00:00
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
更新日期:2009-09-01 00:00:00
abstract::The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depend on multivalent interactions occurring among transcription factors, cofactors and basal transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00724-8
更新日期:2020-12-01 00:00:00
abstract::Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0496-376
更新日期:1996-04-01 00:00:00
abstract::Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3444
更新日期:2015-12-01 00:00:00
abstract::We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.386
更新日期:2009-06-01 00:00:00
abstract::Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/82638
更新日期:2000-12-01 00:00:00