Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

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：:Plants utilize an innate immune system to protect themselves from disease. While many molecular components of plant innate immunity resemble the innate immunity of animals, plants also have evolved a number of truly unique defense mechanisms, particularly at the physiological level. Plant's flexible developmental prog...

journal_title：PLoS genetics

authors： Patharkar OR,Gassmann W,Walker JC

更新日期：2017-12-18 00:00:00

abstract：:DNA- and RNA-processing pathways are integrated and interconnected in the eukaryotic nucleus to allow efficient gene expression and to maintain genomic stability. The recruitment of DNA Topoisomerase I (Topo I), an enzyme controlling DNA supercoiling and acting as a specific kinase for the SR-protein family of splicin...

journal_title：PLoS genetics

authors： Juge F,Fernando C,Fic W,Tazi J

更新日期：2010-09-16 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

authors： Sansó M,Lee KM,Viladevall L,Jacques PÉ,Pagé V,Nagy S,Racine A,St Amour CV,Zhang C,Shokat KM,Schwer B,Robert F,Fisher RP,Tanny JC

更新日期：2012-01-01 00:00:00

abstract：:A role for variant histone H2A.Z in gene expression is now well established but little is known about the mechanisms by which it operates. Using a combination of ChIP-chip, knockdown and expression profiling experiments, we show that upon gene induction, human H2A.Z associates with gene promoters and helps in recruiti...

journal_title：PLoS genetics

authors： Hardy S,Jacques PE,Gévry N,Forest A,Fortin ME,Laflamme L,Gaudreau L,Robert F

更新日期：2009-10-01 00:00:00

abstract：:MicroRNAs (miRNAs) play important roles in normal cellular differentiation and oncogenesis. microRNA93 (mir-93), a member of the mir106b-25 cluster, located in intron 13 of the MCM7 gene, although frequently overexpressed in human malignancies may also function as a tumor suppressor gene. Using a series of breast canc...

journal_title：PLoS genetics

authors： Liu S,Patel SH,Ginestier C,Ibarra I,Martin-Trevino R,Bai S,McDermott SP,Shang L,Ke J,Ou SJ,Heath A,Zhang KJ,Korkaya H,Clouthier SG,Charafe-Jauffret E,Birnbaum D,Hannon GJ,Wicha MS

更新日期：2012-01-01 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：:Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, correspondin...

journal_title：PLoS genetics

authors： Besenbacher S,Sulem P,Helgason A,Helgason H,Kristjansson H,Jonasdottir A,Jonasdottir A,Magnusson OT,Thorsteinsdottir U,Masson G,Kong A,Gudbjartsson DF,Stefansson K

更新日期：2016-11-15 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Over the past four decades, the predominant view of molecular evolution saw little connection between natural selection and genome evolution, assuming that the functionally constrained fraction of the genome is relatively small and that adaptation is sufficiently infrequent to play little role in shaping patterns of v...

journal_title：PLoS genetics

authors： Sella G,Petrov DA,Przeworski M,Andolfatto P

更新日期：2009-06-01 00:00:00

abstract：:Caenorhabditis elegans SKN-1 (ortholog of mammalian Nrf1/2/3) is critical for oxidative stress resistance and promotes longevity under reduced insulin/IGF-1-like signaling (IIS), dietary restriction (DR), and normal conditions. SKN-1 inducibly activates genes involved in detoxification, protein homeostasis, and other ...

journal_title：PLoS genetics

authors： Wang J,Robida-Stubbs S,Tullet JM,Rual JF,Vidal M,Blackwell TK

更新日期：2010-08-05 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：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 00:00:00

abstract：:Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a po...

journal_title：PLoS genetics

authors： Simsek D,Brunet E,Wong SY,Katyal S,Gao Y,McKinnon PJ,Lou J,Zhang L,Li J,Rebar EJ,Gregory PD,Holmes MC,Jasin M

更新日期：2011-06-01 00:00:00

abstract：:Mimulus guttatus and M. nasutus are an evolutionary and ecological model sister species pair differentiated by ecology, mating system, and partial reproductive isolation. Despite extensive research on this system, the history of divergence and differentiation in this sister pair is unclear. We present and analyze a po...

journal_title：PLoS genetics

authors： Brandvain Y,Kenney AM,Flagel L,Coop G,Sweigart AL

更新日期：2014-06-26 00:00:00

abstract：:The male-specific region of the human Y chromosome (MSY) includes eight large inverted repeats (palindromes) in which arm-to-arm similarity exceeds 99.9%, due to gene conversion activity. Here, we studied one of these palindromes, P6, in order to illuminate the dynamics of the gene conversion process. We genotyped ten...

journal_title：PLoS genetics

authors： Hallast P,Balaresque P,Bowden GR,Ballereau S,Jobling MA

更新日期：2013-01-01 00:00:00

abstract：:Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations ...

journal_title：PLoS genetics

authors： Yehia L,Ni Y,Sesock K,Niazi F,Fletcher B,Chen HJL,LaFramboise T,Eng C

更新日期：2018-04-23 00:00:00

abstract：:Although significant variations in the metabolic profiles exist among different cells, little is understood in terms of genetic regulations of such cell type-specific metabolic phenotypes and nutrient requirements. While many cancer cells depend on exogenous glutamine for survival to justify the therapeutic targeting ...

journal_title：PLoS genetics

authors： Kung HN,Marks JR,Chi JT

更新日期：2011-08-01 00:00:00

abstract：:Heterochromatic homology ensures the segregation of achiasmate chromosomes during meiosis I in Drosophila melanogaster females, perhaps as a consequence of the heterochromatic threads that connect achiasmate homologs during prometaphase I. Here, we ask how these threads, and other possible heterochromatic entanglement...

journal_title：PLoS genetics

authors： Hughes SE,Hawley RS

更新日期：2014-10-23 00:00:00

abstract：:The application of deep sequencing to map 5' capped transcripts has confirmed the existence of at least two distinct promoter classes in metazoans: "focused" promoters with transcription start sites (TSSs) that occur in a narrowly defined genomic span and "dispersed" promoters with TSSs that are spread over a larger w...

journal_title：PLoS genetics

authors： Rach EA,Winter DR,Benjamin AM,Corcoran DL,Ni T,Zhu J,Ohler U

更新日期：2011-01-13 00:00:00

abstract：:Organisms living in seasonally variable environments utilize cues such as light and temperature to induce plastic responses, enabling them to exploit favorable seasons and avoid unfavorable ones. Local adapation can result in variation in seasonal responses, but the genetic basis and evolutionary history of this varia...

journal_title：PLoS genetics

authors： Erickson PA,Weller CA,Song DY,Bangerter AS,Schmidt P,Bergland AO

更新日期：2020-11-20 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：: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：:Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...

journal_title：PLoS genetics

authors： Delos Santos K,Kim M,Yergeau C,Jean S,Moon NS

更新日期：2019-09-05 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：:Cells trigger massive changes in gene expression upon environmental fluctuations. The Hog1 stress-activated protein kinase (SAPK) is an important regulator of the transcriptional activation program that maximizes cell fitness when yeast cells are exposed to osmostress. Besides being associated with transcription facto...

journal_title：PLoS genetics

authors： Silva A,Cavero S,Begley V,Solé C,Böttcher R,Chávez S,Posas F,de Nadal E

更新日期：2017-11-20 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

authors： Romanova NV,Crouse GF

更新日期：2013-10-01 00:00:00

abstract：:Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful. Here, we posit using multiple lines of evidence, including pathogenicity m...

journal_title：PLoS genetics

authors： Jensen M,Girirajan S

更新日期：2019-01-17 00:00:00

abstract：:Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies depend on conventional mapping, so the propagation of affected mice req...

journal_title：PLoS genetics

authors： Bull KR,Rimmer AJ,Siggs OM,Miosge LA,Roots CM,Enders A,Bertram EM,Crockford TL,Whittle B,Potter PK,Simon MM,Mallon AM,Brown SD,Beutler B,Goodnow CC,Lunter G,Cornall RJ

更新日期：2013-01-01 00:00:00

abstract：:We recently showed that cassette integration and deletion in integron platforms were occurring through unconventional site-specific recombination reactions involving only the bottom strand of attC sites. The lack of sequence conservation among attC sites led us to hypothesize that sequence-independent structural recog...

journal_title：PLoS genetics

authors： Bouvier M,Ducos-Galand M,Loot C,Bikard D,Mazel D

更新日期：2009-09-01 00:00:00