Abstract:
:Retrotransposition affects genome structure by increasing repetition and producing insertional mutations. Dispersion of the retrotransposon L1 throughout mammalian genomes suggests that L1 activity might be an important evolutionary force. Here we report that L1 retrotransposition contributes to rapid genome evolution in the mouse, because a number of L1 sequences from the T(F) subfamily are retrotransposition competent. We show that the T(F) subfamily is large, young and expanding, containing approximately 4,800 full-length members in strain 129. Eleven randomly isolated, full-length T(F) elements averaged 99.8% sequence identity to each other, and seven of these retrotransposed in cultured cells. Thus, we estimate that the mouse genome contains approximately 3,000 active T(F) elements, 75 times the estimated number of active human L1s. Moreover, as T(F) elements are polymorphic among closely related mice, they have retrotransposed recently, implying rapid amplification of the subfamily to yield genomes with different patterns of interspersed repetition. Our data show that mice and humans differ considerably in the number of active L1s, and probably differ in the contribution of retrotransposition to ongoing sequence evolution.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
DeBerardinis RJ,Goodier JL,Ostertag EM,Kazazian HH Jrdoi
10.1038/3104subject
Has Abstractpub_date
1998-11-01 00:00:00pages
288-90issue
3eissn
1061-4036issn
1546-1718journal_volume
20pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3958
更新日期:2017-11-01 00:00:00
abstract::We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0595-47
更新日期:1995-05-01 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::Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0196-44
更新日期:1996-01-01 00:00:00
abstract::Heritable inactivation of specific regions of the genome is a widespread, possibly universal phenomenon for gene regulation in eukaryotes. Self-perpetuating, clonally inherited chromatin structure has been proposed as the explanation for such phenomena as position-effect variegation (PEV) and control of segment determ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/566
更新日期:1998-06-01 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::Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampli...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1237
更新日期:2003-10-01 00:00:00
abstract::Genome-wide association studies have identified several loci associated with pancreatic cancer risk; however, the mechanisms by which genetic factors influence the development of sporadic pancreatic cancer remain largely unknown. Here, by using genome-wide association analysis and functional characterization, we ident...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3568
更新日期:2016-07-01 00:00:00
abstract::Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1197-331
更新日期:1997-11-01 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::Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1357
更新日期:2004-06-01 00:00:00
abstract::We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.254
更新日期:2008-12-01 00:00:00
abstract::A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1018
更新日期:2011-12-04 00:00:00
abstract::Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/12664
更新日期:1999-09-01 00:00:00
abstract::To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2897
更新日期:2014-03-01 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::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::Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1293-338
更新日期:1993-12-01 00:00:00
abstract::A scarlet fever outbreak began in mainland China and Hong Kong in 2011 (refs. 1-6). Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases. Recently, we identified two mobile genetic elements that were closely associated with emm12 outbreak isolates: the in...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3147
更新日期:2015-01-01 00:00:00
abstract::Type 1 diabetes is an autoimmune disease influenced by multiple genetic loci. Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified. Here we show that RNA interference (RNAi) can be used to probe candid...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1766
更新日期:2006-04-01 00:00:00
abstract::To test the hypothesis that the human genome project will uncover many genes not previously discovered by sequencing of expressed sequence tags (ESTs), we designed and produced a set of microarrays using probes based on open reading frames (ORFs) in 350 Mb of finished and draft human sequence. Our approach aims to ide...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/81613
更新日期:2000-11-01 00:00:00
abstract::Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1762
更新日期:2006-04-01 00:00:00
abstract::Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosom...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng813
更新日期:2002-02-01 00:00:00
abstract::Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00756-0
更新日期:2021-01-01 00:00:00
abstract::The rate at which allelic diversity at the HLA loci evolves has been the subject of considerable controversy. The patchwork pattern of sequence polymorphism within the second exon of the HLA class II loci, particularly in the DPB1 locus, may have been generated by segmental exchange (gene conversion). We have analysed...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0895-407
更新日期:1995-08-01 00:00:00
abstract::Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3847
更新日期:2017-06-01 00:00:00
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 e...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0795-318
更新日期:1995-07-01 00:00:00
abstract::Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2503
更新日期:2013-02-01 00:00:00
abstract::The twenty-first century heralds a new era for the biological sciences and medicine. The tools of our time are allowing us to analyze complex genomes more comprehensively than ever before. A principal technology contributing to this explosion of information is the DNA microarray, which enables us to study genome-wide ...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1038
更新日期:2002-12-01 00:00:00
abstract::We address the challenge of detecting the contribution of noncoding mutations to disease with a deep-learning-based framework that predicts the specific regulatory effects and the deleterious impact of genetic variants. Applying this framework to 1,790 autism spectrum disorder (ASD) simplex families reveals a role in ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0420-0
更新日期:2019-06-01 00:00:00