Abstract:
:Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed and that one DMR is differentially methylated between gametes. Thus, plants seem to have developed similar strategies as mammals to epigenetically mark imprinted genes.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Gutiérrez-Marcos JF,Costa LM,Dal Prà M,Scholten S,Kranz E,Perez P,Dickinson HGdoi
10.1038/ng1828subject
Has Abstractpub_date
2006-08-01 00:00:00pages
876-8issue
8eissn
1061-4036issn
1546-1718pii
ng1828journal_volume
38pub_type
杂志文章相关文献
NATURE GENETICS文献大全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
更新日期:1993-03-01 00:00:00
abstract::Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3673
更新日期:2016-11-01 00:00:00
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
更新日期:2004-07-01 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 apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale w...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-018-0154-4
更新日期:2018-07-01 00:00:00
abstract::Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1193-254
更新日期:1993-11-01 00:00:00
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
更新日期:2014-10-01 00:00:00
abstract::CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.194
更新日期:2008-09-01 00:00:00
abstract::The development of a quantitative understanding of viral evolution and the fitness landscape in HIV-1 drug resistance is a formidable challenge given the large number of available drugs and drug resistance mutations. We analyzed a dataset measuring the in vitro fitness of 70,081 virus samples isolated from HIV-1 subty...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.795
更新日期:2011-05-01 00:00:00
abstract::The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0193-77
更新日期:1993-01-01 00:00:00
abstract::1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0897-391
更新日期:1997-08-01 00:00:00
abstract::Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical structure and evolutionary history of this lineage by genetic analysis of 4,987 isolates from 99 ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3195
更新日期:2015-03-01 00:00:00
abstract::Epidemic C. difficile (027/BI/NAP1) has rapidly emerged in the past decade as the leading cause of antibiotic-associated diarrhea worldwide. However, the key events in evolutionary history leading to its emergence and the subsequent patterns of global spread remain unknown. Here, we define the global population struct...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2478
更新日期:2013-01-01 00:00:00
abstract::In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent, we observed replicated association of generalized vitiligo with ...
journal_title:Nature genetics
pub_type: 杂志文章,多中心研究
doi:10.1038/ng.602
更新日期:2010-07-01 00:00:00
abstract::Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3479
更新日期:2016-02-01 00:00:00
abstract::The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/73550
更新日期:2000-03-01 00:00:00
abstract::Three hundred million individuals are at risk of infection by schistosomes and around 200,000 die each year of this disease. Severe clinical disease in schistosomiasis is often the consequence of heavy infection which, in several endemic areas, are determined largely by the susceptibility/resistance of individuals. Pr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1096-181
更新日期:1996-10-01 00:00:00
abstract::Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific tra...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0492-56
更新日期:1992-04-01 00:00:00
abstract::The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of co...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng2080
更新日期:2007-07-01 00:00:00
abstract::To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1046
更新日期:2012-01-22 00:00:00
abstract::Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1427
更新日期:2004-10-01 00:00:00
abstract::Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/81685
更新日期:2000-11-01 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::High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enri...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3670
更新日期:2016-11-01 00:00:00
abstract::Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1558
更新日期:2005-06-01 00:00:00
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
更新日期:2001-03-01 00:00:00
abstract::The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1196-348
更新日期:1996-11-01 00:00:00
abstract::N6-methyldeoxyadenine (6mA) is a noncanonical DNA base modification present at low levels in plant and animal genomes, but its prevalence and association with genome function in other eukaryotic lineages remains poorly understood. Here we report that abundant 6mA is associated with transcriptionally active genes in ea...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3859
更新日期:2017-06-01 00:00:00
abstract::Several studies have implicated Wnt signalling in primary axis formation during vertebrate embryogenesis, yet no Wnt protein has been shown to be essential for this process. In the mouse, primitive streak formation is the first overt morphological sign of the anterior-posterior axis. Here we show that Wnt3 is expresse...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/11932
更新日期:1999-08-01 00:00:00
abstract::During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/13843
更新日期:1999-10-01 00:00:00