Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome.

abstract：:Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...

journal_title：PLoS genetics

authors： Giguère N,Delignat-Lavaud B,Herborg F,Voisin A,Li Y,Jacquemet V,Anand-Srivastava M,Gether U,Giros B,Trudeau LÉ

更新日期：2019-08-26 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

authors： Sun Y,Ambrose JH,Haughey BS,Webster TD,Pierrie SN,Muñoz DF,Wellman EC,Cherian S,Lewis SM,Berchowitz LE,Copenhaver GP

更新日期：2012-01-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) on chromosome 9p21 are associated with coronary artery disease, diabetes, and multiple cancers. Risk SNPs are mainly non-coding, suggesting that they influence expression and may act in cis. We examined the association between 56 SNPs in this region and peripheral blood expressio...

journal_title：PLoS genetics

authors： Cunnington MS,Santibanez Koref M,Mayosi BM,Burn J,Keavney B

更新日期：2010-04-08 00:00:00

abstract：:Mating-type switching is a complex mechanism that promotes sexual reproduction in Saccharomycotina. In the model species Saccharomyces cerevisiae, mating-type switching is initiated by the Ho endonuclease that performs a site-specific double-strand break (DSB) at MAT, repaired by homologous recombination (HR) using on...

journal_title：PLoS genetics

authors： Maroc L,Zhou-Li Y,Boisnard S,Fairhead C

更新日期：2020-10-15 00:00:00

abstract：:Piwi-interacting RNAs are a diverse class of small non-coding RNAs implicated in the silencing of transposable elements and the safeguarding of genome integrity. In mammals, male germ cells express two genetically and developmentally distinct populations of piRNAs at the pre-pachytene and pachytene stages of meiosis, ...

journal_title：PLoS genetics

authors： Zheng K,Wang PJ

更新日期：2012-01-01 00:00:00

abstract：:Candida albicans is a normal resident of the gastrointestinal tract and also the most prevalent fungal pathogen of humans. It last shared a common ancestor with the model yeast Saccharomyces cerevisiae over 300 million years ago. We describe a collection of 143 genetically matched strains of C. albicans, each of which...

journal_title：PLoS genetics

authors： Homann OR,Dea J,Noble SM,Johnson AD

更新日期：2009-12-01 00:00:00

abstract：:Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families displ...

journal_title：PLoS genetics

authors： Eloy P,Dehainault C,Sefta M,Aerts I,Doz F,Cassoux N,Lumbroso le Rouic L,Stoppa-Lyonnet D,Radvanyi F,Millot GA,Gauthier-Villars M,Houdayer C

更新日期：2016-02-29 00:00:00

abstract：:In many cases protein assemblies are stabilized by covalent bonds, one example of which is the formation of intra- or intermolecular ε-(γ-glutamyl)lysil cross-links catalyzed by transglutaminases (TGases). Because of the potential for unwanted cross-linking reactions, the activities of many TGases have been shown to b...

journal_title：PLoS genetics

authors： Fernandes CG,Martins D,Hernandez G,Sousa AL,Freitas C,Tranfield EM,Cordeiro TN,Serrano M,Moran CP Jr,Henriques AO

更新日期：2019-04-08 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

authors： Smith RP,Eckalbar WL,Morrissey KM,Luizon MR,Hoffmann TJ,Sun X,Jones SL,Force Aldred S,Ramamoorthy A,Desta Z,Liu Y,Skaar TC,Trinklein ND,Giacomini KM,Ahituv N

更新日期：2014-10-02 00:00:00

abstract：:Genome reduction is typical of obligate symbionts. In cellular organelles, this reduction partly reflects transfer of ancestral bacterial genes to the host genome, but little is known about gene transfer in other obligate symbioses. Aphids harbor anciently acquired obligate mutualists, Buchnera aphidicola (Gammaproteo...

journal_title：PLoS genetics

authors： Nikoh N,McCutcheon JP,Kudo T,Miyagishima SY,Moran NA,Nakabachi A

更新日期：2010-02-26 00:00:00

abstract：:Genome-wide association studies (GWAS) have transformed our understanding of the genetics of complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic variants that affect gene expression (expression quantitative trait loci, or eQTLs) is c...

journal_title：PLoS genetics

authors： Peters JE,Lyons PA,Lee JC,Richard AC,Fortune MD,Newcombe PJ,Richardson S,Smith KG

更新日期：2016-03-25 00:00:00

abstract：:Understanding the molecular mechanisms of ultraviolet (UV) induced melanoma formation is becoming crucial with more reported cases each year. Expression of type II nuclear receptor Retinoid-X-Receptor α (RXRα) is lost during melanoma progression in humans. Here, we observed that in mice with melanocyte-specific ablati...

journal_title：PLoS genetics

authors： Coleman DJ,Garcia G,Hyter S,Jang HS,Chagani S,Liang X,Larue L,Ganguli-Indra G,Indra AK

更新日期：2014-05-08 00:00:00

abstract：:Most of the genetic architecture of schizophrenia (SCZ) has not yet been identified. Here, we apply a novel statistical algorithm called Covariate-Modulated Mixture Modeling (CM3), which incorporates auxiliary information (heterozygosity, total linkage disequilibrium, genomic annotations, pleiotropy) for each single n...

journal_title：PLoS genetics

authors： Wang Y,Thompson WK,Schork AJ,Holland D,Chen CH,Bettella F,Desikan RS,Li W,Witoelar A,Zuber V,Devor A,Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Enhancing Neuro Imaging Genetics throug

更新日期：2016-01-25 00:00:00

abstract：:Replication Protein A (RPA) is a heterotrimeric, single-stranded DNA (ssDNA)-binding complex required for DNA replication and repair, homologous recombination, DNA damage checkpoint signaling, and telomere maintenance. Whilst the larger RPA subunits, Rpa1 and Rpa2, have essential interactions with ssDNA, the molecular...

journal_title：PLoS genetics

authors： Cavero S,Limbo O,Russell P

更新日期：2010-09-23 00:00:00

abstract：:The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systemat...

journal_title：PLoS genetics

authors： Tuch BB,Mitrovich QM,Homann OR,Hernday AD,Monighetti CK,De La Vega FM,Johnson AD

更新日期：2010-08-19 00:00:00

abstract：:Skin pigment patterns are important, being under strong selection for multiple roles including camouflage and UV protection. Pigment cells underlying these patterns form from adult pigment stem cells (APSCs). In zebrafish, APSCs derive from embryonic neural crest cells, but sit dormant until activated to produce pigme...

journal_title：PLoS genetics

authors： Camargo-Sosa K,Colanesi S,Müller J,Schulte-Merker S,Stemple D,Patton EE,Kelsh RN

更新日期：2019-02-27 00:00:00

abstract：:White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from...

journal_title：PLoS genetics

authors： Nalls MA,Couper DJ,Tanaka T,van Rooij FJ,Chen MH,Smith AV,Toniolo D,Zakai NA,Yang Q,Greinacher A,Wood AR,Garcia M,Gasparini P,Liu Y,Lumley T,Folsom AR,Reiner AP,Gieger C,Lagou V,Felix JF,Völzke H,Gouskova NA,B

更新日期：2011-06-01 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 00:00:00

abstract：:Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu. ...

journal_title：PLoS genetics

authors： Lev-Maor G,Ram O,Kim E,Sela N,Goren A,Levanon EY,Ast G

更新日期：2008-09-26 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 00:00:00

abstract：:Systematic characterization of ẖybrid incompatibility (HI) between related species remains the key to understanding speciation. The genetic basis of HI has been intensively studied in Drosophila species, but remains largely unknown in other species, including nematodes, which is mainly due to the lack of a sister spec...

journal_title：PLoS genetics

authors： Bi Y,Ren X,Yan C,Shao J,Xie D,Zhao Z

更新日期：2015-02-18 00:00:00

abstract：:Detection and validation of the RNA degradation signals controlling transcriptome stability are essential steps for understanding how cells regulate gene expression. Here we present complete genomic and biochemical annotations of the signals required for RNA degradation by the dsRNA specific ribonuclease III (Rnt1p) a...

journal_title：PLoS genetics

authors： Gagnon J,Lavoie M,Catala M,Malenfant F,Elela SA

更新日期：2015-02-13 00:00:00

abstract：:Dishevelled (Dvl) proteins are important signaling components of both the canonical beta-catenin/Wnt pathway, which controls cell proliferation and patterning, and the planar cell polarity (PCP) pathway, which coordinates cell polarity within a sheet of cells and also directs convergent extension cell (CE) movements t...

journal_title：PLoS genetics

authors： Etheridge SL,Ray S,Li S,Hamblet NS,Lijam N,Tsang M,Greer J,Kardos N,Wang J,Sussman DJ,Chen P,Wynshaw-Boris A

更新日期：2008-11-01 00:00:00

abstract：:Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Risk in Communities (AR...

journal_title：PLoS genetics

authors： Kulminski AM,He L,Culminskaya I,Loika Y,Kernogitski Y,Arbeev KG,Loiko E,Arbeeva L,Bagley O,Duan M,Yashkin A,Fang F,Kovtun M,Ukraintseva SV,Wu D,Yashin AI

更新日期：2016-11-10 00:00:00

abstract：:Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...

journal_title：PLoS genetics

authors： Seberg HE,Van Otterloo E,Loftus SK,Liu H,Bonde G,Sompallae R,Gildea DE,Santana JF,Manak JR,Pavan WJ,Williams T,Cornell RA

更新日期：2017-03-01 00:00:00

abstract：:The exclusive localization of the histone H3 variant CENP-A to centromeres is essential for accurate chromosome segregation. Ubiquitin-mediated proteolysis helps to ensure that CENP-A does not mislocalize to euchromatin, which can lead to genomic instability. Consistent with this, overexpression of the budding yeast C...

journal_title：PLoS genetics

authors： Hildebrand EM,Biggins S

更新日期：2016-03-16 00:00:00

abstract：:The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...

journal_title：PLoS genetics

authors： Jadaliha M,Gholamalamdari O,Tang W,Zhang Y,Petracovici A,Hao Q,Tariq A,Kim TG,Holton SE,Singh DK,Li XL,Freier SM,Ambs S,Bhargava R,Lal A,Prasanth SG,Ma J,Prasanth KV

更新日期：2018-11-29 00:00:00

abstract：:Using small molecule probes to understand gene function is an attractive approach that allows functional characterization of genes that are dispensable in standard laboratory conditions and provides insight into the mode of action of these compounds. Using chemogenomic assays we previously identified yeast Crg1, an un...

journal_title：PLoS genetics

authors： Lissina E,Young B,Urbanus ML,Guan XL,Lowenson J,Hoon S,Baryshnikova A,Riezman I,Michaut M,Riezman H,Cowen LE,Wenk MR,Clarke SG,Giaever G,Nislow C

更新日期：2011-10-01 00:00:00

abstract：:Most genetic variants associated with disease occur within regulatory regions of the genome, underscoring the importance of defining the mechanisms underlying differences in regulation of gene expression between individuals. We discovered a pair of co-regulated, divergently oriented transcripts, AQY2 and ncFRE6, that ...

journal_title：PLoS genetics

authors： Read T,Richmond PA,Dowell RD

更新日期：2016-01-11 00:00:00

abstract：:Dietary factors, including meat, fruits, vegetables and fiber, are associated with colorectal cancer; however, there is limited information as to whether these dietary factors interact with genetic variants to modify risk of colorectal cancer. We tested interactions between these dietary factors and approximately 2.7 ...

journal_title：PLoS genetics

authors： Figueiredo JC,Hsu L,Hutter CM,Lin Y,Campbell PT,Baron JA,Berndt SI,Jiao S,Casey G,Fortini B,Chan AT,Cotterchio M,Lemire M,Gallinger S,Harrison TA,Le Marchand L,Newcomb PA,Slattery ML,Caan BJ,Carlson CS,Zanke BW,

更新日期：2014-04-17 00:00:00