A comprehensive map of mobile element insertion polymorphisms in humans.

abstract：:The phenotypic heterogeneity that characterizes human cancers reflects the enormous genetic complexity of the oncogenic process. This complexity can also be seen in mouse models where it is frequently observed that in addition to the initiating genetic alteration, the resulting tumor harbors additional, somatically ac...

journal_title：PLoS genetics

authors： Rempel RE,Mori S,Gasparetto M,Glozak MA,Andrechek ER,Adler SB,Laakso NM,Lagoo AS,Storms R,Smith C,Nevins JR

更新日期：2009-09-01 00:00:00

abstract：:Elg1, the major subunit of a Replication Factor C-like complex, is critical to ensure genomic stability during DNA replication, and is implicated in controlling chromatin structure. We investigated the consequences of Elg1 loss for the dynamics of chromatin re-formation following DNA replication. Measurement of Okazak...

journal_title：PLoS genetics

authors： Gali VK,Dickerson D,Katou Y,Fujiki K,Shirahige K,Owen-Hughes T,Kubota T,Donaldson AD

更新日期：2018-11-12 00:00:00

abstract：:Many microbes exhibit quorum sensing (QS) to cooperate, share and perform a social task in unison. Recent studies have shown the emergence of reversible phenotypic heterogeneity in the QS-responding pathogenic microbial population under laboratory conditions as a possible bet-hedging survival strategy. However, very l...

journal_title：PLoS genetics

authors： Samal B,Chatterjee S

更新日期：2019-09-17 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00

abstract：:Guanine (G)-rich DNA readily forms four-stranded quadruplexes in vitro, but evidence for their participation in genome regulation is limited. We have identified a quadruplex-binding protein, Lia3, that controls the boundaries of germline-limited, internal eliminated sequences (IESs) of Tetrahymena thermophila. Differe...

journal_title：PLoS genetics

authors： Carle CM,Zaher HS,Chalker DL

更新日期：2016-03-07 00:00:00

abstract：:Nrf2, a transcriptional activator of cell protection genes, is an attractive therapeutic target for the prevention of neurodegenerative diseases, including Alzheimer's disease (AD). Current Nrf2 activators, however, may exert toxicity and pathway over-activation can induce detrimental effects. An understanding of the ...

journal_title：PLoS genetics

authors： Kerr F,Sofola-Adesakin O,Ivanov DK,Gatliff J,Gomez Perez-Nievas B,Bertrand HC,Martinez P,Callard R,Snoeren I,Cochemé HM,Adcott J,Khericha M,Castillo-Quan JI,Wells G,Noble W,Thornton J,Partridge L

更新日期：2017-03-02 00:00:00

abstract：:Intercellular communication mediated by gap junction (GJ) proteins is indispensable during embryogenesis, tissue regeneration and wound healing. Here we report functional analysis of a gap junction protein, Innexin 2 (Inx2), in cell type specification during Drosophila oogenesis. Our data reveal a novel involvement of...

journal_title：PLoS genetics

authors： Sahu A,Ghosh R,Deshpande G,Prasad M

更新日期：2017-01-23 00:00:00

abstract：:The Unfolded Protein Response (UPR) maintains homeostasis in the endoplasmic reticulum (ER) and defends against ER stress, an underlying factor in various human diseases. During the UPR, numerous genes are activated that sustain and protect the ER. These responses are known to involve the canonical UPR transcription f...

journal_title：PLoS genetics

authors： Glover-Cutter KM,Lin S,Blackwell TK

更新日期：2013-01-01 00:00:00

abstract：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:The origin and evolution of new microRNAs (miRNAs) is important because they can impact the transcriptome broadly. As miRNAs can potentially emerge constantly and rapidly, their rates of birth and evolution have been extensively debated. However, most new miRNAs identified appear not to be biologically significant. Af...

journal_title：PLoS genetics

authors： Lyu Y,Shen Y,Li H,Chen Y,Guo L,Zhao Y,Hungate E,Shi S,Wu CI,Tang T

更新日期：2014-01-01 00:00:00

abstract：:Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic...

journal_title：PLoS genetics

authors： Day F,Karaderi T,Jones MR,Meun C,He C,Drong A,Kraft P,Lin N,Huang H,Broer L,Magi R,Saxena R,Laisk T,Urbanek M,Hayes MG,Thorleifsson G,Fernandez-Tajes J,Mahajan A,Mullin BH,Stuckey BGA,Spector TD,Wilson SG,Good

更新日期：2018-12-19 00:00:00

abstract：:It is now widely recognized that robustness is an inherent property of biological systems [1],[2],[3]. The contribution of close sequence homologs to genetic robustness against null mutations has been previously demonstrated in simple organisms [4],[5]. In this paper we investigate in detail the contribution of gene d...

journal_title：PLoS genetics

authors： Hsiao TL,Vitkup D

更新日期：2008-03-14 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：:In Drosophila, 50 classes of olfactory receptor neurons (ORNs) connect to 50 class-specific and uniquely positioned glomeruli in the antennal lobe. Despite the identification of cell surface receptors regulating axon guidance, how ORN axons sort to form 50 stereotypical glomeruli remains unclear. Here we show that the...

journal_title：PLoS genetics

authors： Barish S,Nuss S,Strunilin I,Bao S,Mukherjee S,Jones CD,Volkan PC

更新日期：2018-08-13 00:00:00

abstract：:CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci, together with cas (CRISPR-associated) genes, form the CRISPR/Cas adaptive immune system, a primary defense strategy that eubacteria and archaea mobilize against foreign nucleic acids, including phages and conjugative plasmids. Short spacer sequen...

journal_title：PLoS genetics

authors： Rho M,Wu YW,Tang H,Doak TG,Ye Y

更新日期：2012-01-01 00:00:00

abstract：:The cerebellum is a pivotal centre for the integration and processing of motor and sensory information. Its extended development into the postnatal period makes this structure vulnerable to a variety of pathologies, including neoplasia. These properties have prompted intensive investigations that reveal not only devel...

journal_title：PLoS genetics

authors： van Essen MJ,Nayler S,Becker EBE,Jacob J

更新日期：2020-04-16 00:00:00

abstract：:The mechanisms involved in the recognition of microbial pathogens and activation of the immune system have been extensively studied. However, the mechanisms involved in the recovery phase of an infection are incompletely characterized at both the cellular and physiological levels. Here, we establish a Caenorhabditis e...

journal_title：PLoS genetics

authors： Head B,Aballay A

更新日期：2014-10-23 00:00:00

abstract：:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, ha...

journal_title：PLoS genetics

authors： Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

更新日期：2020-11-20 00:00:00

abstract：:Proteins associated with familial neurodegenerative disease often aggregate in patients' neurons. Several such proteins, e.g. TDP-43, aggregate and are toxic when expressed in yeast. Deletion of the ATXN2 ortholog, PBP1, reduces yeast TDP-43 toxicity, which led to identification of ATXN2 as an amyotrophic lateral scle...

journal_title：PLoS genetics

authors： Park S,Park SK,Watanabe N,Hashimoto T,Iwatsubo T,Shelkovnikova TA,Liebman SW

更新日期：2019-08-07 00:00:00

abstract：:The nuclear lamina is the structural scaffold of the nuclear envelope and is well known for its central role in nuclear organization and maintaining nuclear stability and shape. In the past, a number of severe human disorders have been identified to be associated with mutations in lamins. Extensive research on this to...

journal_title：PLoS genetics

authors： Link J,Jahn D,Schmitt J,Göb E,Baar J,Ortega S,Benavente R,Alsheimer M

更新日期：2013-01-01 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：:Studies of the severely pancytopenic scat mouse model first demonstrated the crucial role of RASA3, a dual RAS and RAP GTPase activating protein (GAP), in hematopoiesis. RASA3 is required for survival in utero; germline deletion is lethal at E12.5-13.5 due to severe hemorrhage. Here, conditional deletion in hematopoie...

journal_title：PLoS genetics

authors： Robledo RF,Ciciotte SL,Graber JH,Zhao Y,Lambert AJ,Gwynn B,Maki NJ,Brindley EC,Hartman E,Blanc L,Peters LL

更新日期：2020-12-28 00:00:00

abstract：:Detailed information about stage-specific changes in gene expression is crucial for the understanding of the gene regulatory networks underlying development. Here, we describe the global gene expression dynamics during early flower development, a key process in the life cycle of a plant, during which floral patterning...

journal_title：PLoS genetics

authors： Wellmer F,Alves-Ferreira M,Dubois A,Riechmann JL,Meyerowitz EM

更新日期：2006-07-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1005854.]. ...

journal_title：PLoS genetics

authors： PLOS Genetics Staff.

更新日期：2016-05-12 00:00:00

abstract：:Mating and gametogenesis are two essential components of animal reproduction. Gametogenesis must be modulated by the need for gametes, yet little is known of how mating, a process that utilizes gametes, may modulate the process of gametogenesis. Here, we report that mating stimulates female germline stem cell (GSC) pr...

journal_title：PLoS genetics

authors： Ameku T,Niwa R

更新日期：2016-06-16 00:00:00

abstract：:While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, renderin...

journal_title：PLoS genetics

authors： Mähler N,Wang J,Terebieniec BK,Ingvarsson PK,Street NR,Hvidsten TR

更新日期：2017-04-13 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：:Target of Rapamycin (TOR) signalling allows eukaryotic cells to adjust cell growth in response to changes in their nutritional and environmental context. The two distinct TOR complexes (TORC1/2) localise to the cell's internal membrane compartments; the endoplasmic reticulum (ER), Golgi apparatus and lysosomes/vacuole...

journal_title：PLoS genetics

authors： Kowalczyk KM,Petersen J

更新日期：2016-05-18 00:00:00

abstract：:Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*...

journal_title：PLoS genetics

authors： Simon M,Richard EM,Wang X,Shahzad M,Huang VH,Qaiser TA,Potluri P,Mahl SE,Davila A,Nazli S,Hancock S,Yu M,Gargus J,Chang R,Al-Sheqaih N,Newman WG,Abdenur J,Starr A,Hegde R,Dorn T,Busch A,Park E,Wu J,Schwenzer

更新日期：2015-03-25 00:00:00

abstract：:Recent comparative genomic analysis of alternative splicing has shown that protein modularity is an important criterion for functional alternative splicing events. Exons that are alternatively spliced in multiple organisms are much more likely to be an exact multiple of 3 nt in length, representing a class of "modular...

journal_title：PLoS genetics

authors： Xing Y,Lee CJ

更新日期：2005-09-01 00:00:00