Inter-population Differences in Retrogene Loss and Expression in Humans.

abstract：:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating...

journal_title：PLoS genetics

authors： Meng L,Person RE,Huang W,Zhu PJ,Costa-Mattioli M,Beaudet AL

更新日期：2013-01-01 00:00:00

abstract：:Polycomb group (PcG) proteins act as evolutionary conserved epigenetic mediators of cell identity because they repress transcriptional programs that are not required at particular developmental stages. Each tissue is likely to have a specific epigenetic profile, which acts as a blueprint for its developmental fate. A ...

journal_title：PLoS genetics

authors： Weinhofer I,Hehenberger E,Roszak P,Hennig L,Köhler C

更新日期：2010-10-07 00:00:00

abstract：:Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we examined diurnal metabolite and transcriptome patterns in a zebraf...

journal_title：PLoS genetics

authors： Weger BD,Weger M,Görling B,Schink A,Gobet C,Keime C,Poschet G,Jost B,Krone N,Hell R,Gachon F,Luy B,Dickmeis T

更新日期：2016-12-12 00:00:00

abstract：:Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying these neurological symptoms are unknown. To better understand how mutations of the underlying gene (NF1) drive behavioral ...

journal_title：PLoS genetics

authors： King LB,Boto T,Botero V,Aviles AM,Jomsky BM,Joseph C,Walker JA,Tomchik SM

更新日期：2020-07-22 00:00:00

abstract：:Somatic mutations in the nuclear genome are required for tumor formation, but the functional consequences of somatic mitochondrial DNA (mtDNA) mutations are less understood. Here we identify somatic mtDNA mutations across 527 tumors and 14 cancer types, using an approach that takes advantage of evidence from both geno...

journal_title：PLoS genetics

authors： Stewart JB,Alaei-Mahabadi B,Sabarinathan R,Samuelsson T,Gorodkin J,Gustafsson CM,Larsson E

更新日期：2015-06-30 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：: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：:Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted out...

journal_title：PLoS genetics

authors： Thouvenot P,Ben Yamin B,Fourrière L,Lescure A,Boudier T,Del Nery E,Chauchereau A,Goldgar DE,Houdayer C,Stoppa-Lyonnet D,Nicolas A,Millot GA

更新日期：2016-06-06 00:00:00

abstract：:Domesticated Asian rice (Oryza sativa) is one of the oldest domesticated crop species in the world, having fed more people than any other plant in human history. We report the patterns of DNA sequence variation in rice and its wild ancestor, O. rufipogon, across 111 randomly chosen gene fragments, and use these to inf...

journal_title：PLoS genetics

authors： Caicedo AL,Williamson SH,Hernandez RD,Boyko A,Fledel-Alon A,York TL,Polato NR,Olsen KM,Nielsen R,McCouch SR,Bustamante CD,Purugganan MD

更新日期：2007-09-01 00:00:00

abstract：:Sex-specific traits that lead to the production of dimorphic gametes, sperm in males and eggs in females, are fundamental for sexual reproduction and accordingly widespread among animals. Yet the sex-biased genes that underlie these sex-specific traits are under strong selective pressure, and as a result of adaptive e...

journal_title：PLoS genetics

authors： Shah C,Vangompel MJ,Naeem V,Chen Y,Lee T,Angeloni N,Wang Y,Xu EY

更新日期：2010-07-15 00:00:00

abstract：:One of the most powerful techniques for studying the function of a gene is to disrupt the expression of that gene using genetic engineering strategies such as targeted recombination or viral integration of gene trap cassettes. The tremendous utility of these tools was recognized this year with the awarding of the Nobe...

journal_title：PLoS genetics

authors： Osokine I,Hsu R,Loeb GB,McManus MT

更新日期：2008-02-01 00:00:00

abstract：:In order to study the role played by cellular RNA pools produced by homologous genomic loci in defining the transcriptional state of a silenced gene, we tested the effect of non-functional alleles of the white gene in the presence of a functional copy of white, silenced by heterochromatin. We found that non-functional...

journal_title：PLoS genetics

authors： Onorati MC,Arancio W,Cavalieri V,Ingrassia AM,Pavesi G,Corona DF

更新日期：2015-08-20 00:00:00

abstract：:NURF is a conserved higher eukaryotic ISWI-containing chromatin remodeling complex that catalyzes ATP-dependent nucleosome sliding. By sliding nucleosomes, NURF is able to alter chromatin dynamics to control transcription and genome organization. Previous biochemical and genetic analysis of the specificity-subunit of ...

journal_title：PLoS genetics

authors： Kwon SY,Grisan V,Jang B,Herbert J,Badenhorst P

更新日期：2016-04-05 00:00:00

abstract：:Pre-mRNAs are often processed in complex patterns in tissue-specific manners to produce a variety of protein isoforms from single genes. However, mechanisms orchestrating the processing of the entire transcript are not well understood. Muscle-specific alternative pre-mRNA processing of the unc-60 gene in Caenorhabditi...

journal_title：PLoS genetics

authors： Ohno G,Ono K,Togo M,Watanabe Y,Ono S,Hagiwara M,Kuroyanagi H

更新日期：2012-01-01 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：:Considerable evidence now supports the idea that the moderate telomere lengthening produced by recombinational telomere elongation (RTE) in a Kluyveromyces lactis telomerase deletion mutant occurs through a roll-and-spread mechanism. However, it is unclear whether this mechanism can account for other forms of RTE that...

journal_title：PLoS genetics

authors： Xu J,McEachern MJ

更新日期：2012-01-01 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：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Small heat shock proteins (sHsps) are a conserved class of ATP-independent chaperones that bind to aggregation-prone polypeptides at stress conditions. sHsps encage these polypeptides in assemblies, shielding them from further aggregation. To facilitate their subsequent solubilization and refolding by Hsp70 (DnaK) and...

journal_title：PLoS genetics

authors： Obuchowski I,Piróg A,Stolarska M,Tomiczek B,Liberek K

更新日期：2019-10-25 00:00:00

abstract：:Under nitrogen deprivation, filaments of the cyanobacterium Anabaena undergo a process of development, resulting in a one-dimensional pattern of nitrogen-fixing heterocysts separated by about ten photosynthetic vegetative cells. Many aspects of gene expression before nitrogen deprivation and during the developmental p...

journal_title：PLoS genetics

authors： Corrales-Guerrero L,Tal A,Arbel-Goren R,Mariscal V,Flores E,Herrero A,Stavans J

更新日期：2015-04-01 00:00:00

abstract：:The ribonuclease III enzyme Drosha has a central role in the biogenesis of microRNA (miRNA) by binding and cleaving hairpin structures in primary RNA transcripts into precursor miRNAs (pre-miRNAs). Many miRNA genes are located within protein-coding host genes and cleaved by Drosha in a manner that is coincident with s...

journal_title：PLoS genetics

authors： Havens MA,Reich AA,Hastings ML

更新日期：2014-05-01 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：:Marine ecosystems are changing rapidly as the oceans warm and become more acidic. The physical factors and the changes to ocean chemistry that they drive can all be measured with great precision. Changes in the biological composition of communities in different ocean regions are far more challenging to measure because...

journal_title：PLoS genetics

authors： Berry TE,Saunders BJ,Coghlan ML,Stat M,Jarman S,Richardson AJ,Davies CH,Berry O,Harvey ES,Bunce M

更新日期：2019-02-08 00:00:00

abstract：:The requirements for oocyte meiotic cytokinesis during polar body extrusion are not well understood. In particular, the relationship between the oocyte meiotic spindle and polar body contractile ring dynamics remains largely unknown. We have used live cell imaging and spindle assembly defective mutants lacking the fun...

journal_title：PLoS genetics

authors： Schlientz AJ,Bowerman B

更新日期：2020-10-07 00:00:00

abstract：:Mollicutes is a class of parasitic bacteria that have evolved from a common Firmicutes ancestor mostly by massive genome reduction. With genomes under 1 Mbp in size, most Mollicutes species retain the capacity to replicate and grow autonomously. The major goal of this work was to identify the minimal set of proteins t...

journal_title：PLoS genetics

authors： Grosjean H,Breton M,Sirand-Pugnet P,Tardy F,Thiaucourt F,Citti C,Barré A,Yoshizawa S,Fourmy D,de Crécy-Lagard V,Blanchard A

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：:Abeta peptide accumulation is thought to be the primary event in the pathogenesis of Alzheimer's disease (AD), with downstream neurotoxic effects including the hyperphosphorylation of tau protein. Glycogen synthase kinase-3 (GSK-3) is increasingly implicated as playing a pivotal role in this amyloid cascade. We have d...

journal_title：PLoS genetics

authors： Sofola O,Kerr F,Rogers I,Killick R,Augustin H,Gandy C,Allen MJ,Hardy J,Lovestone S,Partridge L

更新日期：2010-09-02 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：:Innate immunity in Caenorhabditis elegans requires a conserved PMK-1 p38 mitogen-activated protein kinase (MAPK) pathway that regulates the basal and pathogen-induced expression of immune effectors. The mechanisms by which PMK-1 p38 MAPK regulates the transcriptional activation of the C. elegans immune response have n...

journal_title：PLoS genetics

authors： Shivers RP,Pagano DJ,Kooistra T,Richardson CE,Reddy KC,Whitney JK,Kamanzi O,Matsumoto K,Hisamoto N,Kim DH

更新日期：2010-04-01 00:00:00

abstract：:The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation sy...

journal_title：PLoS genetics

authors： Vlangos CN,Siuniak AN,Robinson D,Chinnaiyan AM,Lyons RH Jr,Cavalcoli JD,Keegan CE

更新日期：2013-01-01 00:00:00