Abstract:
:Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV. Here, we characterize what are likely to be the youngest TRIM genes in the human genome. For instance, we have identified 11 TRIM genes that are specific to humans and African apes (chimpanzees, bonobos, and gorillas) and another 7 that are human-specific. Many of these young genes have never been described, and their identification brings the total number of known human TRIM genes to approximately 100. These genes were acquired through segmental duplications, most of which originated from a single locus on chromosome 11. Another polymorphic duplication of this locus has resulted in these genes being copy number variable within the human population, with a Han Chinese woman identified as having 12 additional copies of these TRIM genes compared to other individuals screened in this study. Recently, this locus was annotated as one of 34 "hotspot" regions that are also copy number variable in the genomes of chimpanzees and rhesus macaques. Most of the young TRIM genes originating from this locus are expressed, spliced, and contain signatures of positive natural selection in regions known to determine virus recognition in TRIM5α. However, we find that they do not restrict the same retroviruses as TRIM5α, consistent with the high degree of divergence observed in the regions that control target specificity. We propose that this recombinationally volatile locus serves as a reservoir from which new TRIM genes arise through segmental duplication, allowing primates to continually acquire new antiviral genes that can be selected to target new and evolving pathogens.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Han K,Lou DI,Sawyer SLdoi
10.1371/journal.pgen.1002388subject
Has Abstractpub_date
2011-12-01 00:00:00pages
e1002388issue
12eissn
1553-7390issn
1553-7404pii
PGENETICS-D-11-01642journal_volume
7pub_type
杂志文章相关文献
PLoS Genetics文献大全abstract::We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004594
更新日期:2014-10-23 00:00:00
abstract::Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers to predict response or new drugs to target refractory cases. To u...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1003394
更新日期:2013-03-01 00:00:00
abstract::GATA transcription factors play a crucial role in the regulation of immune functions across metazoans. In Caenorhabditis elegans, the GATA transcription factor ELT-2 is involved in the control of not only infections but also recovery after an infection. We identified RPT-6, part of the 19S proteasome subunit, as an EL...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007693
更新日期:2018-09-28 00:00:00
abstract::Inter-individual variation in gene regulatory elements is hypothesized to play a causative role in adverse drug reactions and reduced drug activity. However, relatively little is known about the location and function of drug-dependent elements. To uncover drug-associated elements in a genome-wide manner, we performed ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004648
更新日期:2014-10-02 00:00:00
abstract::The number and distribution of crossover events are tightly regulated at prophase of meiosis I. The resolution of Holliday junctions by structure-specific endonucleases, including MUS-81, SLX-1, XPF-1 and GEN-1, is one of the main mechanisms proposed for crossover formation. However, how these nucleases coordinately r...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003586
更新日期:2013-01-01 00:00:00
abstract::Recent and classical work has revealed biologically and medically significant subtypes in complex diseases and traits. However, relevant subtypes are often unknown, unmeasured, or actively debated, making automated statistical approaches to subtype definition valuable. We propose reverse GWAS (RGWAS) to identify and v...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008009
更新日期:2019-04-05 00:00:00
abstract::Chronic inflammation promotes oncogenic transformation and tumor progression. Many inflammatory agents also generate a toxic microenvironment, implying that adaptive mechanisms must be deployed for cells to survive and undergo transformation in such unfavorable contexts. A paradigmatic case is represented by cancers o...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007380
更新日期:2018-05-07 00:00:00
abstract::Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region gen...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000084
更新日期:2008-05-30 00:00:00
abstract::We report here the ~670 Mb genome assembly of the Asian seabass (Lates calcarifer), a tropical marine teleost. We used long-read sequencing augmented by transcriptomics, optical and genetic mapping along with shared synteny from closely related fish species to derive a chromosome-level assembly with a contig N50 size ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005954
更新日期:2016-04-15 00:00:00
abstract::The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007602
更新日期:2018-08-27 00:00:00
abstract::Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005402
更新日期:2015-09-03 00:00:00
abstract::Wnt signaling provides a paradigm for cell-cell signals that regulate embryonic development and stem cell homeostasis and are inappropriately activated in cancers. The tumor suppressors APC and Axin form the core of the multiprotein destruction complex, which targets the Wnt-effector beta-catenin for phosphorylation, ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007339
更新日期:2018-04-11 00:00:00
abstract::Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutatio...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000870
更新日期:2010-03-05 00:00:00
abstract::Recent studies have demonstrated that the DNA methylome changes with age. This epigenetic drift may have deep implications for cellular differentiation and disease development. However, it remains unclear how much of this drift is functional or caused by underlying changes in cell subtype composition. Moreover, no stu...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004996
更新日期:2015-02-18 00:00:00
abstract::Sexual dimorphisms in trait expression are widespread among animals and are especially pronounced in ornaments and weapons of sexual selection, which can attain exaggerated sizes. Expression of exaggerated traits is usually male-specific and nutrition sensitive. Consequently, the developmental mechanisms generating se...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004098
更新日期:2014-01-01 00:00:00
abstract::Positive Transcription Elongation Factor b (P-TEFb) is a kinase consisting of Cdk9 and Cyclin T that releases RNA Polymerase II (Pol II) into active elongation. It can assemble into a larger Super Elongation Complex (SEC) consisting of additional elongation factors. Here, we use a miRNA-based approach to knock down th...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004971
更新日期:2015-02-13 00:00:00
abstract::X-chromosome inactivation (XCI) in female lymphocytes is uniquely regulated, as the inactive X (Xi) chromosome lacks localized Xist RNA and heterochromatin modifications. Epigenetic profiling reveals that Xist RNA is lost from the Xi at the pro-B cell stage and that additional heterochromatic modifications are gradual...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007050
更新日期:2017-10-09 00:00:00
abstract::Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutation...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005783
更新日期:2016-01-28 00:00:00
abstract::Genome duplications are important evolutionary events that impact the rate and spectrum of beneficial mutations and thus the rate of adaptation. Laboratory evolution experiments initiated with haploid Saccharomyces cerevisiae cultures repeatedly experience whole-genome duplication (WGD). We report recurrent genome dup...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007396
更新日期:2018-05-25 00:00:00
abstract::Riboviruses (RNA viruses without DNA replication intermediates) are the most abundant pathogens infecting animals and plants. Only a few riboviral infections can be controlled with antiviral drugs, mainly because of the rapid appearance of resistance mutations. Little reliable information is available concerning i) ki...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002832
更新日期:2012-01-01 00:00:00
abstract::Gene conversion, the non-reciprocal exchange of genetic information, is one of the potential products of meiotic recombination. It can shape genome structure by acting on repetitive DNA elements, influence allele frequencies at the population level, and is known to be implicated in human disease. But gene conversion i...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002968
更新日期:2012-01-01 00:00:00
abstract::Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (HdhneoQ20, HdhneoQ50, HdhneoQ1...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007765
更新日期:2019-03-21 00:00:00
abstract::Chemosensory pheromonal information regulates aggression and reproduction in many species, but how pheromonal signals are transduced to reliably produce behavior is not well understood. Here we demonstrate that the pheromonal signals detected by Gr32a-expressing chemosensory neurons to enhance male aggression are filt...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004356
更新日期:2014-05-22 00:00:00
abstract::DNA mismatch repair greatly increases genome fidelity by recognizing and removing replication errors. In order to understand how this fidelity is maintained, it is important to uncover the relative specificities of the different components of mismatch repair. There are two major mispair recognition complexes in eukary...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003920
更新日期:2013-10-01 00:00:00
abstract::Thymine DNA glycosylase (TDG) functions in base excision repair, a DNA repair pathway that acts in a lesion-specific manner to correct individual damaged or altered bases. TDG preferentially catalyzes the removal of thymine and uracil paired with guanine, and is also active on 5-fluorouracil (5-FU) paired with adenine...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004753
更新日期:2014-11-06 00:00:00
abstract::Transcript elongation by RNA polymerase II (RNAPII) is accompanied by conserved patterns of histone modification. Whereas histone modifications have established roles in transcription initiation, their functions during elongation are not understood. Mono-ubiquitylation of histone H2B (H2Bub1) plays a key role in coord...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002822
更新日期:2012-01-01 00:00:00
abstract::Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006367
更新日期:2016-10-28 00:00:00
abstract::Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk syncytial layer (YSL) to move lipids from yolk to growing tissues. Disruptions in B-lp produ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008941
更新日期:2020-08-06 00:00:00
abstract::Immunoregulatory cytokine interleukin-10 (IL-10) is elevated in sera from patients with systemic lupus erythematosus (SLE) correlating with disease activity. The established association of IL10 with SLE and other autoimmune diseases led us to fine map causal variant(s) and to explore underlying mechanisms. We assessed...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003870
更新日期:2013-01-01 00:00:00
abstract::Recently, Wu and colleagues [1] proposed two novel statistics for genome-wide interaction analysis using case/control or case-only data. In computer simulations, their proposed case/control statistic outperformed competing approaches, including the fast-epistasis option in PLINK and logistic regression analysis under ...
journal_title:PLoS genetics
pub_type: 评论,杂志文章
doi:10.1371/journal.pgen.1002625
更新日期:2012-01-01 00:00:00