Heat-induced release of epigenetic silencing reveals the concealed role of an imprinted plant gene.

abstract：:With the increasing focus of genetic association on the identification of trait-associated rare variants through sequencing, it is important to identify the most cost-effective sequencing strategies for these studies. Deep sequencing will accurately detect and genotype the most rare variants per individual, but may li...

journal_title：PLoS genetics

authors： Rashkin S,Jun G,Chen S,Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).,Abecasis GR

更新日期：2017-06-22 00:00:00

abstract：:We resequenced and phased 27 kb of DNA within 580 kb of the MHC class II region in 158 population chromosomes, most of which were conserved extended haplotypes (CEHs) of European descent or contained their centromeric fragments. We determined the single nucleotide polymorphism and deletion-insertion polymorphism allel...

journal_title：PLoS genetics

authors： Larsen CE,Alford DR,Trautwein MR,Jalloh YK,Tarnacki JL,Kunnenkeri SK,Fici DA,Yunis EJ,Awdeh ZL,Alper CA

更新日期：2014-10-09 00:00:00

abstract：:The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

journal_title：PLoS genetics

authors： Seoighe C,Scally A

更新日期：2017-01-17 00:00:00

abstract：:Prolific sheep have proven to be a valuable model to identify genes and mutations implicated in female fertility. In the Lacaune sheep breed, large variation in litter size is genetically determined by the segregation of a fecundity major gene influencing ovulation rate, named FecL and its prolific allele FecL(L) . Ou...

journal_title：PLoS genetics

authors： Drouilhet L,Mansanet C,Sarry J,Tabet K,Bardou P,Woloszyn F,Lluch J,Harichaux G,Viguié C,Monniaux D,Bodin L,Mulsant P,Fabre S

更新日期：2013-01-01 00:00:00

abstract：:Most Cryptococccus neoformans genes are interrupted by introns, and alternative splicing occurs very often. In this study, we examined the influence of introns on C. neoformans gene expression. For most tested genes, elimination of introns greatly reduces mRNA accumulation. Strikingly, the number and the position of i...

journal_title：PLoS genetics

authors： Goebels C,Thonn A,Gonzalez-Hilarion S,Rolland O,Moyrand F,Beilharz TH,Janbon G

更新日期：2013-01-01 00:00:00

abstract：:The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene in the Y chromosome have not been completely elucidated, partly owing to difficulties in gene targeting analysis of the Y chromosome. Zfy was first proposed to be a sex determination factor, but its function ...

journal_title：PLoS genetics

authors： Nakasuji T,Ogonuki N,Chiba T,Kato T,Shiozawa K,Yamatoya K,Tanaka H,Kondo T,Miyado K,Miyasaka N,Kubota T,Ogura A,Asahara H

更新日期：2017-01-23 00:00:00

abstract：:Cell-to-cell gene expression noise is thought to be an important mechanism for generating phenotypic diversity. Furthermore, telomeric regions are major sites for gene amplification, which is thought to drive genetic diversity. Here we found that individual subtelomeric TLO genes exhibit increased variation in transcr...

journal_title：PLoS genetics

authors： Anderson MZ,Gerstein AC,Wigen L,Baller JA,Berman J

更新日期：2014-07-24 00:00:00

abstract：:At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the instability process remain undefined. Genomic fragments from the human s...

journal_title：PLoS genetics

authors： Libby RT,Hagerman KA,Pineda VV,Lau R,Cho DH,Baccam SL,Axford MM,Cleary JD,Moore JM,Sopher BL,Tapscott SJ,Filippova GN,Pearson CE,La Spada AR

更新日期：2008-11-01 00:00:00

abstract：:During neurogenesis, transcription factors combinatorially specify neuronal fates and then differentiate subtype identities by inducing subtype-specific gene expression profiles. But how is neuronal subtype identity maintained in mature neurons? Modeling this question in two Drosophila neuronal subtypes (Tv1 and Tv4),...

journal_title：PLoS genetics

authors： Eade KT,Fancher HA,Ridyard MS,Allan DW

更新日期：2012-01-01 00:00:00

abstract：:Adipose tissue lipolysis occurs during the development of heart failure as a consequence of chronic adrenergic stimulation. However, the impact of enhanced adipose triacylglycerol hydrolysis mediated by adipose triglyceride lipase (ATGL) on cardiac function is unclear. To investigate the role of adipose tissue lipolys...

journal_title：PLoS genetics

authors： Salatzki J,Foryst-Ludwig A,Bentele K,Blumrich A,Smeir E,Ban Z,Brix S,Grune J,Beyhoff N,Klopfleisch R,Dunst S,Surma MA,Klose C,Rothe M,Heinzel FR,Krannich A,Kershaw EE,Beule D,Schulze PC,Marx N,Kintscher U

更新日期：2018-01-10 00:00:00

abstract：:Capsules allow bacteria to colonize novel environments, to withstand numerous stresses, and to resist antibiotics. Yet, even though genetic exchanges with other cells should be adaptive under such circumstances, it has been suggested that capsules lower the rates of homologous recombination and horizontal gene transfe...

journal_title：PLoS genetics

authors： Rendueles O,de Sousa JAM,Bernheim A,Touchon M,Rocha EPC

更新日期：2018-12-21 00:00:00

abstract：:Biogenesis of mammalian mitochondrial ribosomes requires a concerted maturation of both the small (SSU) and large subunit (LSU). We demonstrate here that the m(5)C methyltransferase NSUN4, which forms a complex with MTERF4, is essential in mitochondrial ribosomal biogenesis as mitochondrial translation is abolished in...

journal_title：PLoS genetics

authors： Metodiev MD,Spåhr H,Loguercio Polosa P,Meharg C,Becker C,Altmueller J,Habermann B,Larsson NG,Ruzzenente B

更新日期：2014-02-06 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 00:00:00

abstract：:Many diseases are differentially distributed among human populations. Differential selection on genetic variants in ancestral environments that coincidentally predispose to disease can be an underlying cause of these unequal prevalence patterns. Selected genes may be pleiotropic, affecting multiple phenotypes and resu...

journal_title：PLoS genetics

authors： Russell SB,Smith JC,Huang M,Trupin JS,Williams SM

更新日期：2015-11-05 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 histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similari...

journal_title：PLoS genetics

authors： Morgan NV,Morris MR,Cangul H,Gleeson D,Straatman-Iwanowska A,Davies N,Keenan S,Pasha S,Rahman F,Gentle D,Vreeswijk MP,Devilee P,Knowles MA,Ceylaner S,Trembath RC,Dalence C,Kismet E,Köseoğlu V,Rossbach HC,Gissen P,

更新日期：2010-02-05 00:00:00

abstract：:The interplay of microbiota and the human host is physiologically crucial in health and diseases. The beneficial effects of lactic acid bacteria (LAB), permanently colonizing the human intestine or transiently obtained from food, have been extensively reported. However, the molecular understanding of how LAB modulate ...

journal_title：PLoS genetics

authors： Peters A,Krumbholz P,Jäger E,Heintz-Buschart A,Çakir MV,Rothemund S,Gaudl A,Ceglarek U,Schöneberg T,Stäubert C

更新日期：2019-05-23 00:00:00

abstract：:Sister centromere fusion is a process unique to meiosis that promotes co-orientation of the sister kinetochores, ensuring they attach to microtubules from the same pole during metaphase I. We have found that the kinetochore protein SPC105R/KNL1 and Protein Phosphatase 1 (PP1-87B) regulate sister centromere fusion in D...

journal_title：PLoS genetics

authors： Wang LI,Das A,McKim KS

更新日期：2019-05-31 00:00:00

abstract：:Zn²(+)-finger proteins comprise one of the largest protein superfamilies with diverse biological functions. The ATM substrate Chk2-interacting Zn²(+)-finger protein (ASCIZ; also known as ATMIN and ZNF822) was originally linked to functions in the DNA base damage response and has also been proposed to be an essential c...

journal_title：PLoS genetics

authors： Jurado S,Smyth I,van Denderen B,Tenis N,Hammet A,Hewitt K,Ng JL,McNees CJ,Kozlov SV,Oka H,Kobayashi M,Conlan LA,Cole TJ,Yamamoto K,Taniguchi Y,Takeda S,Lavin MF,Heierhorst J

更新日期：2010-10-21 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：:Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma membrane leading to excessive muscle degeneration. Two genetic modifiers of Duchenne Muscular Dystrophy implicate the transforming growth factor β (TGFβ) pathway, osteopontin encoded by the SPP1 gene and l...

journal_title：PLoS genetics

authors： Quattrocelli M,Capote J,Ohiri JC,Warner JL,Vo AH,Earley JU,Hadhazy M,Demonbreun AR,Spencer MJ,McNally EM

更新日期：2017-10-24 00:00:00

abstract：:All living organisms exist in a precarious state of homeostasis that requires constant maintenance. A wide variety of stresses, including hypoxia, heat, and infection by pathogens perpetually threaten to imbalance this state. Organisms use a battery of defenses to mitigate damage and restore normal function. Previousl...

journal_title：PLoS genetics

authors： Tjahjono E,Kirienko NV

更新日期：2017-06-29 00:00:00

abstract：:The major transition to eusociality required the evolution of a switch to canalize development into either a reproductive or a helper, the nature of which is currently unknown. Following predictions from the 'theory of facilitated variation', we identify sex differentiation pathways as promising candidates because of ...

journal_title：PLoS genetics

authors： Klein A,Schultner E,Lowak H,Schrader L,Heinze J,Holman L,Oettler J

更新日期：2016-03-31 00:00:00

abstract：:Bacteria can arrest their own growth and proliferation upon nutrient depletion and under various stressful conditions to ensure their survival. However, the molecular mechanisms responsible for suppressing growth and arresting the cell cycle under such conditions remain incompletely understood. Here, we identify post-...

journal_title：PLoS genetics

authors： Leslie DJ,Heinen C,Schramm FD,Thüring M,Aakre CD,Murray SM,Laub MT,Jonas K

更新日期：2015-07-02 00:00:00

abstract：:Cooperative transcription factor binding at cis-regulatory sites in the genome drives robust eukaryotic gene expression, and many such sites must be coordinated to produce coherent transcriptional programs. The transcriptional program leading to motile cilia formation requires members of the DNA-binding forkhead (Fox)...

journal_title：PLoS genetics

authors： Quigley IK,Kintner C

更新日期：2017-01-19 00:00:00

abstract：:In nature, microbes often need to "decide" which of several available nutrients to utilize, a choice that depends on a cell's inherent preference and external nutrient levels. While natural environments can have mixtures of different nutrients, phenotypic variation in microbes' decisions of which nutrient to utilize i...

journal_title：PLoS genetics

authors： Lee KB,Wang J,Palme J,Escalante-Chong R,Hua B,Springer M

更新日期：2017-05-24 00:00:00

abstract：:The neonatal intestine is a very complex and dynamic organ that must rapidly adapt and remodel in response to a barrage of environmental stimuli during the first few postnatal weeks. Recent studies demonstrate that the zinc finger transcriptional repressor Blimp1/Prdm1 plays an essential role governing postnatal repro...

journal_title：PLoS genetics

authors： Mould AW,Morgan MA,Nelson AC,Bikoff EK,Robertson EJ

更新日期：2015-07-09 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively assess the role of the Knudson two hit genetic model in SCNA generation in prostate cancer...

journal_title：PLoS genetics

authors： Camacho N,Van Loo P,Edwards S,Kay JD,Matthews L,Haase K,Clark J,Dennis N,Thomas S,Kremeyer B,Zamora J,Butler AP,Gundem G,Merson S,Luxton H,Hawkins S,Ghori M,Marsden L,Lambert A,Karaszi K,Pelvender G,Massie CE,

更新日期：2017-09-25 00:00:00