The cdx genes and retinoic acid control the positioning and segmentation of the zebrafish pronephros.

abstract：:Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...

journal_title：PLoS genetics

authors： Seberg HE,Van Otterloo E,Loftus SK,Liu H,Bonde G,Sompallae R,Gildea DE,Santana JF,Manak JR,Pavan WJ,Williams T,Cornell RA

更新日期：2017-03-01 00:00:00

abstract：:Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between variance effects (Pv), G×E...

journal_title：PLoS genetics

authors： Shungin D,Deng WQ,Varga TV,Luan J,Mihailov E,Metspalu A,GIANT Consortium.,Morris AP,Forouhi NG,Lindgren C,Magnusson PKE,Pedersen NL,Hallmans G,Chu AY,Justice AE,Graff M,Winkler TW,Rose LM,Langenberg C,Cupples LA,R

更新日期：2017-06-14 00:00:00

abstract：:X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). Biochemically, catalytically inacti...

journal_title：PLoS genetics

authors： Gupta VA,Hnia K,Smith LL,Gundry SR,McIntire JE,Shimazu J,Bass JR,Talbot EA,Amoasii L,Goldman NE,Laporte J,Beggs AH

更新日期：2013-06-01 00:00:00

abstract：:Systematic characterization of ẖybrid incompatibility (HI) between related species remains the key to understanding speciation. The genetic basis of HI has been intensively studied in Drosophila species, but remains largely unknown in other species, including nematodes, which is mainly due to the lack of a sister spec...

journal_title：PLoS genetics

authors： Bi Y,Ren X,Yan C,Shao J,Xie D,Zhao Z

更新日期：2015-02-18 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 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：:Monospermic fertilization is mediated by the extracellular zona pellucida composed of ZP1, ZP2 and ZP3. Sperm bind to the N-terminus of ZP2 which is cleaved after fertilization by ovastacin (encoded by Astl) exocytosed from egg cortical granules to prevent sperm binding. AstlNull mice lack the post-fertilization block...

journal_title：PLoS genetics

authors： Xiong B,Zhao Y,Beall S,Sadusky AB,Dean J

更新日期：2017-01-23 00:00:00

abstract：:The circadian clock coordinates physiology and metabolism. mTOR (mammalian/mechanistic target of rapamycin) is a major intracellular sensor that integrates nutrient and energy status to regulate protein synthesis, metabolism, and cell growth. Previous studies have identified a key role for mTOR in regulating photic en...

journal_title：PLoS genetics

authors： Ramanathan C,Kathale ND,Liu D,Lee C,Freeman DA,Hogenesch JB,Cao R,Liu AC

更新日期：2018-05-11 00:00:00

abstract：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 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：:The circadian clocks in chlorophyte algae have been studied in two model organisms, Chlamydomonas reinhardtii and Ostreococcus tauri. These studies revealed that the chlorophyte clocks include some genes that are homologous to those of the angiosperm circadian clock. However, the genetic network architectures of the c...

journal_title：PLoS genetics

authors： Matsuo T,Iida T,Ohmura A,Gururaj M,Kato D,Mutoh R,Ihara K,Ishiura M

更新日期：2020-06-17 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：:Topoisomerase 3α, a class I topoisomerase, consists of a TOPRIM domain, an active centre and a variable number of zinc-finger domains (ZFDs) at the C-terminus, in multicellular organisms. Whereas the functions of the TOPRIM domain and the active centre are known, the specific role of the ZFDs is still obscure. In cont...

journal_title：PLoS genetics

authors： Dorn A,Röhrig S,Papp K,Schröpfer S,Hartung F,Knoll A,Puchta H

更新日期：2018-09-17 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：:Checkpoint pathways regulate genomic integrity in part by blocking anaphase until all chromosomes have been completely replicated, repaired, and correctly aligned on the spindle. In Saccharomyces cerevisiae, DNA damage and mono-oriented or unattached kinetochores trigger checkpoint pathways that bifurcate to regulate ...

journal_title：PLoS genetics

authors： Searle JS,Wood MD,Kaur M,Tobin DV,Sanchez Y

更新日期：2011-07-01 00:00:00

abstract：:Neisseria meningitidis is the primary causative agent of bacterial meningitis. The genome is rich in repetitive DNA and almost 2% is occupied by a diminutive transposon called the Correia element. Here we report a bioinformatic analysis defining eight subtypes of the element with four distinct types of ends. Transcrip...

journal_title：PLoS genetics

authors： Siddique A,Buisine N,Chalmers R

更新日期：2011-01-20 00:00:00

abstract：:The 2,2,7-trimethylguanosine (TMG) cap is one of the first identified modifications on eukaryotic RNAs. TMG, synthesized by the conserved Tgs1 enzyme, is abundantly present on snRNAs essential for pre-mRNA splicing. Results from ex vivo experiments in vertebrate cells suggested that TMG ensures nuclear localization of...

journal_title：PLoS genetics

authors： Cheng L,Zhang Y,Zhang Y,Chen T,Xu YZ,Rong YS

更新日期：2020-10-21 00:00:00

abstract：:The genetic impact associated to the Neolithic spread in Europe has been widely debated over the last 20 years. Within this context, ancient DNA studies have provided a more reliable picture by directly analyzing the protagonist populations at different regions in Europe. However, the lack of available data from the o...

journal_title：PLoS genetics

authors： Fernández E,Pérez-Pérez A,Gamba C,Prats E,Cuesta P,Anfruns J,Molist M,Arroyo-Pardo E,Turbón D

更新日期：2014-06-05 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：:Cereal endosperm represents 60% of the calories consumed by human beings worldwide. In addition, cereals also serve as the primary feedstock for livestock. However, the regulatory mechanism of cereal endosperm and seed development is largely unknown. Polycomb complex has been shown to play a key role in the regulation...

journal_title：PLoS genetics

authors： Nallamilli BR,Zhang J,Mujahid H,Malone BM,Bridges SM,Peng Z

更新日期：2013-01-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1008320.]. ...

journal_title：PLoS genetics

authors： PLOS Genetics Staff.

更新日期：2019-12-19 00:00:00

abstract：:Recent studies have demonstrated that the DNA methylome changes with age. This epigenetic drift may have deep implications for cellular differentiation and disease development. However, it remains unclear how much of this drift is functional or caused by underlying changes in cell subtype composition. Moreover, no stu...

journal_title：PLoS genetics

authors： Yuan T,Jiao Y,de Jong S,Ophoff RA,Beck S,Teschendorff AE

更新日期：2015-02-18 00:00:00

abstract：:Escherichia coli translation initiation factor 2 (IF2) performs the unexpected function of promoting transition from recombination to replication during bacteriophage Mu transposition in vitro, leading to initiation by replication restart proteins. This function has suggested a role of IF2 in engaging cellular restart...

journal_title：PLoS genetics

authors： Madison KE,Abdelmeguid MR,Jones-Foster EN,Nakai H

更新日期：2012-01-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centre...

journal_title：PLoS genetics

authors： Meyer E,Lim D,Pasha S,Tee LJ,Rahman F,Yates JR,Woods CG,Reik W,Maher ER

更新日期：2009-03-01 00:00:00

abstract：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 00:00:00

abstract：:Meiosis is a specialized cell division used by diploid organisms to form haploid gametes for sexual reproduction. Central to this reductive division is repair of endogenous DNA double-strand breaks (DSBs) induced by the meiosis-specific enzyme Spo11. These DSBs are repaired in a process called homologous recombination...

journal_title：PLoS genetics

authors： Lilienthal I,Kanno T,Sjögren C

更新日期：2013-11-01 00:00:00

abstract：:Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to...

journal_title：PLoS genetics

authors： Hong Y,Sonneville R,Agostinho A,Meier B,Wang B,Blow JJ,Gartner A

更新日期：2016-03-24 00:00:00

abstract：:Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study...

journal_title：PLoS genetics

authors： Yang Q,Feng B,Zhang K,Guo YY,Liu SB,Wu YM,Li XQ,Zhao MG

更新日期：2012-01-01 00:00:00

abstract：:Thousands of loci in the human and mouse genomes give rise to circular RNA transcripts; at many of these loci, the predominant RNA isoform is a circle. Using an improved computational approach for circular RNA identification, we found widespread circular RNA expression in Drosophila melanogaster and estimate that in h...

journal_title：PLoS genetics

authors： Salzman J,Chen RE,Olsen MN,Wang PL,Brown PO

更新日期：2013-01-01 00:00:00

abstract：:RNA silencing is a defense system against "genomic parasites" such as transposable elements (TE), which are potentially harmful to host genomes. In plants, transcripts from TEs induce production of double-stranded RNAs (dsRNAs) and are processed into small RNAs (small interfering RNAs, siRNAs) that suppress TEs by RNA...

journal_title：PLoS genetics

authors： Nosaka M,Itoh J,Nagato Y,Ono A,Ishiwata A,Sato Y

更新日期：2012-09-01 00:00:00