XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways.

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a common refractive e...

journal_title：PLoS genetics

authors： Garnai SJ,Brinkmeier ML,Emery B,Aleman TS,Pyle LC,Veleva-Rotse B,Sisk RA,Rozsa FW,Ozel AB,Li JZ,Moroi SE,Archer SM,Lin CM,Sheskey S,Wiinikka-Buesser L,Eadie J,Urquhart JE,Black GCM,Othman MI,Boehnke M,Sullivan SA

更新日期：2019-05-02 00:00:00

abstract：:The transcription factor CONSTANS (CO) is a central component that promotes Arabidopsis flowering under long-day conditions (LDs). Here, we show that the microRNA319-regulated TEOSINTE BRANCHED/CYCLOIDEA/PCF (TCP) transcription factors promote photoperiodic flowering through binding to the CO promoter and activating i...

journal_title：PLoS genetics

authors： Liu J,Cheng X,Liu P,Li D,Chen T,Gu X,Sun J

更新日期：2017-05-30 00:00:00

abstract：:MicroRNAs (miRNAs) are small, non-coding RNAs that play essential roles in plant growth, development, and stress response. We conducted a genome-wide survey of maize miRNA genes, characterizing their structure, expression, and evolution. Computational approaches based on homology and secondary structure modeling ident...

journal_title：PLoS genetics

authors： Zhang L,Chia JM,Kumari S,Stein JC,Liu Z,Narechania A,Maher CA,Guill K,McMullen MD,Ware D

更新日期：2009-11-01 00:00:00

abstract：:The phenotype of the spontaneous mutant mouse hop-sterile (hop) is characterized by a hopping gait, polydactyly, hydrocephalus, and male sterility. Previous analyses of the hop mouse revealed a deficiency of inner dynein arms in motile cilia and a lack of sperm flagella, potentially accounting for the hydrocephalus an...

journal_title：PLoS genetics

authors： Swiderski RE,Nakano Y,Mullins RF,Seo S,Bánfi B

更新日期：2014-10-23 00:00:00

abstract：:Understanding the transcriptional regulation of pluripotent cells is of fundamental interest and will greatly inform efforts aimed at directing differentiation of embryonic stem (ES) cells or reprogramming somatic cells. We first analyzed the transcriptional profiles of mouse ES cells and primordial germ cells and ide...

journal_title：PLoS genetics

authors： Grskovic M,Chaivorapol C,Gaspar-Maia A,Li H,Ramalho-Santos M

更新日期：2007-08-01 00:00:00

abstract：:The antigenic repertoire presented by MHC molecules is generated by the antigen processing and presentation (APP) pathway. We analyzed the evolutionary history of 45 genes involved in APP at the inter- and intra-species level. Results showed that 11 genes evolved adaptively in mammals. Several positively selected site...

journal_title：PLoS genetics

authors： Forni D,Cagliani R,Tresoldi C,Pozzoli U,De Gioia L,Filippi G,Riva S,Menozzi G,Colleoni M,Biasin M,Lo Caputo S,Mazzotta F,Comi GP,Bresolin N,Clerici M,Sironi M

更新日期：2014-03-27 00:00:00

abstract：:Insertions and deletions (indels) are a major source of genetic variation within species and may result in functional changes to coding or regulatory sequences. In this study we report that an indel polymorphism in the 3' untranslated region (UTR) of the metallothionein gene MtnA is associated with gene expression var...

journal_title：PLoS genetics

authors： Catalán A,Glaser-Schmitt A,Argyridou E,Duchen P,Parsch J

更新日期：2016-04-27 00:00:00

abstract：:Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively explored in relation to tumor methylation attributes in conjunction with other tumor and patient dietary and hormonal characteristics. Using primary breast tumors from 162 (AJCC stage ...

journal_title：PLoS genetics

authors： Christensen BC,Kelsey KT,Zheng S,Houseman EA,Marsit CJ,Wrensch MR,Wiemels JL,Nelson HH,Karagas MR,Kushi LH,Kwan ML,Wiencke JK

更新日期：2010-07-29 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：:DNA methyltransferases are ubiquitous enzymes conserved in bacteria, plants and opisthokonta. These enzymes, which methylate cytosines, are involved in numerous biological processes, notably development. In mammals and higher plants, methylation patterns established and maintained by the cytosine DNA methyltransferase...

journal_title：PLoS genetics

authors： Grognet P,Timpano H,Carlier F,Aït-Benkhali J,Berteaux-Lecellier V,Debuchy R,Bidard F,Malagnac F

更新日期：2019-08-14 00:00:00

abstract：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 00:00:00

abstract：:Increases in fruit weight of cultivated vegetables and fruits accompanied the domestication of these crops. Here we report on the positional cloning of a quantitative trait locus (QTL) controlling fruit weight in tomato. The derived allele of Cell Size Regulator (CSR-D) increases fruit weight predominantly through enl...

journal_title：PLoS genetics

authors： Mu Q,Huang Z,Chakrabarti M,Illa-Berenguer E,Liu X,Wang Y,Ramos A,van der Knaap E

更新日期：2017-08-17 00:00:00

abstract：:We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in orde...

journal_title：PLoS genetics

authors： Marcheco-Teruel B,Parra EJ,Fuentes-Smith E,Salas A,Buttenschøn HN,Demontis D,Torres-Español M,Marín-Padrón LC,Gómez-Cabezas EJ,Alvarez-Iglesias V,Mosquera-Miguel A,Martínez-Fuentes A,Carracedo A,Børglum AD,Mors O

更新日期：2014-07-24 00:00:00

abstract：:Humans and dogs are both affected by the allergic skin disease atopic dermatitis (AD), caused by an interaction between genetic and environmental factors. The German shepherd dog (GSD) is a high-risk breed for canine AD (CAD). In this study, we used a Swedish cohort of GSDs as a model for human AD. Serum IgA levels ar...

journal_title：PLoS genetics

authors： Tengvall K,Kierczak M,Bergvall K,Olsson M,Frankowiack M,Farias FH,Pielberg G,Carlborg Ö,Leeb T,Andersson G,Hammarström L,Hedhammar Å,Lindblad-Toh K

更新日期：2013-05-01 00:00:00

abstract：:During meiotic prophase I, double-strand breaks (DSBs) initiate homologous recombination leading to non-crossovers (NCOs) and crossovers (COs). In mouse, 10% of DSBs are designated to become COs, primarily through a pathway dependent on the MLH1-MLH3 heterodimer (MutLγ). Mlh3 contains an endonuclease domain that is cr...

journal_title：PLoS genetics

authors： Toledo M,Sun X,Brieño-Enríquez MA,Raghavan V,Gray S,Pea J,Milano CR,Venkatesh A,Patel L,Borst PL,Alani E,Cohen PE

更新日期：2019-06-06 00:00:00

abstract：:Genetical genomics is a strategy for mapping gene expression variation to expression quantitative trait loci (eQTLs). We performed a genetical genomics experiment in four functionally distinct but developmentally closely related hematopoietic cell populations isolated from the BXD panel of recombinant inbred mouse str...

journal_title：PLoS genetics

authors： Gerrits A,Li Y,Tesson BM,Bystrykh LV,Weersing E,Ausema A,Dontje B,Wang X,Breitling R,Jansen RC,de Haan G

更新日期：2009-10-01 00:00:00

abstract：:The hallmark of canonical Wnt signaling is the transcriptional induction of Wnt target genes by the beta-catenin/TCF complex. Several studies have proposed alternative interaction partners for beta-catenin or TCF, but the relevance of potential bifurcations in the distal Wnt pathway remains unclear. Here we study on a...

journal_title：PLoS genetics

authors： Franz A,Shlyueva D,Brunner E,Stark A,Basler K

更新日期：2017-04-03 00:00:00

abstract：:Cdc6p is an essential component of the pre-replicative complex (pre-RC), which binds to DNA replication origins to promote initiation of DNA replication. Only once per cell cycle does DNA replication take place. After initiation, the pre-RC components are disassembled in order to prevent re-replication. It has been sh...

journal_title：PLoS genetics

authors： Ikui AE,Rossio V,Schroeder L,Yoshida S

更新日期：2012-01-01 00:00:00

abstract：:Cellular toxicity introduced by protein misfolding threatens cell fitness and viability. Failure to eliminate these polypeptides is associated with various aggregation diseases. In eukaryotes, the ubiquitin proteasome system (UPS) plays a vital role in protein quality control (PQC), by selectively targeting misfolded ...

journal_title：PLoS genetics

authors： Peters LZ,Karmon O,David-Kadoch G,Hazan R,Yu T,Glickman MH,Ben-Aroya S

更新日期：2015-04-28 00:00:00

abstract：:During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate ...

journal_title：PLoS genetics

authors： Natarajan C,Jendroszek A,Kumar A,Weber RE,Tame JRH,Fago A,Storz JF

更新日期：2018-04-02 00:00:00

abstract：:The mitochondrial beta-oxidation system is one of the central metabolic pathways of energy metabolism in mammals. Enzyme defects in this pathway cause fatty acid oxidation disorders. To elucidate the role of 2,4-dienoyl-CoA reductase (DECR) as an auxiliary enzyme in the mitochondrial beta-oxidation of unsaturated fatt...

journal_title：PLoS genetics

authors： Miinalainen IJ,Schmitz W,Huotari A,Autio KJ,Soininen R,Ver Loren van Themaat E,Baes M,Herzig KH,Conzelmann E,Hiltunen JK

更新日期：2009-07-01 00:00:00

abstract：:Mutations in the human LMNA gene cause muscular dystrophy by mechanisms that are incompletely understood. The LMNA gene encodes A-type lamins, intermediate filaments that form a network underlying the inner nuclear membrane, providing structural support for the nucleus and organizing the genome. To better understand t...

journal_title：PLoS genetics

authors： Dialynas G,Shrestha OK,Ponce JM,Zwerger M,Thiemann DA,Young GH,Moore SA,Yu L,Lammerding J,Wallrath LL

更新日期：2015-05-21 00:00:00

abstract：:The ratio of forced expiratory volume in one second to forced vital capacity (FEV(1)/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 Framingham Heart Study participants to identify single-nucleotide polymorphisms (SNPs) associated wi...

journal_title：PLoS genetics

authors： Wilk JB,Chen TH,Gottlieb DJ,Walter RE,Nagle MW,Brandler BJ,Myers RH,Borecki IB,Silverman EK,Weiss ST,O'Connor GT

更新日期：2009-03-01 00:00:00

abstract：:North African populations are distinct from sub-Saharan Africans based on cultural, linguistic, and phenotypic attributes; however, the time and the extent of genetic divergence between populations north and south of the Sahara remain poorly understood. Here, we interrogate the multilayered history of North Africa by ...

journal_title：PLoS genetics

authors： Henn BM,Botigué LR,Gravel S,Wang W,Brisbin A,Byrnes JK,Fadhlaoui-Zid K,Zalloua PA,Moreno-Estrada A,Bertranpetit J,Bustamante CD,Comas D

更新日期：2012-01-01 00:00:00

abstract：:Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recess...

journal_title：PLoS genetics

authors： Chahrour MH,Yu TW,Lim ET,Ataman B,Coulter ME,Hill RS,Stevens CR,Schubert CR,ARRA Autism Sequencing Collaboration.,Greenberg ME,Gabriel SB,Walsh CA

更新日期：2012-01-01 00:00:00

abstract：:Hypercholesterolemia is a causal and modifiable risk factor for atherosclerotic cardiovascular disease. A critical pathway regulating cholesterol homeostasis involves the receptor-mediated endocytosis of low-density lipoproteins into hepatocytes, mediated by the LDL receptor. We applied genome-scale CRISPR screening t...

journal_title：PLoS genetics

authors： Emmer BT,Sherman EJ,Lascuna PJ,Graham SE,Willer CJ,Ginsburg D

更新日期：2021-01-29 00:00:00

abstract：:Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by genome-wide association studies (GWAS) in individuals of European ancestry. In order to investigat...

journal_title：PLoS genetics

authors： Ng MC,Shriner D,Chen BH,Li J,Chen WM,Guo X,Liu J,Bielinski SJ,Yanek LR,Nalls MA,Comeau ME,Rasmussen-Torvik LJ,Jensen RA,Evans DS,Sun YV,An P,Patel SR,Lu Y,Long J,Armstrong LL,Wagenknecht L,Yang L,Snively BM,

更新日期：2014-08-07 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

authors： Vij S,Kuhl H,Kuznetsova IS,Komissarov A,Yurchenko AA,Van Heusden P,Singh S,Thevasagayam NM,Prakki SR,Purushothaman K,Saju JM,Jiang J,Mbandi SK,Jonas M,Hin Yan Tong A,Mwangi S,Lau D,Ngoh SY,Liew WC,Shen X,Hon LS,

更新日期：2016-04-15 00:00:00

abstract：:Homology-dependent repair of DNA double-strand breaks (DSBs) by gene conversion involves short tracts of DNA synthesis and limited loss of heterozygosity (LOH). For DSBs that present only one end, repair occurs by invasion into a homologous sequence followed by replication to the end of the chromosome resulting in ext...

journal_title：PLoS genetics

authors： Marrero VA,Symington LS

更新日期：2010-07-08 00:00:00