A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers.

abstract：:XRN2 is a conserved 5'→3' exoribonuclease that complexes with proteins that contain XRN2-binding domains (XTBDs). In Caenorhabditis elegans (C. elegans), the XTBD-protein PAXT-1 stabilizes XRN2 to retain its activity. XRN2 activity is also promoted by 3'(2'),5'-bisphosphate nucleotidase 1 (BPNT1) through hydrolysis of...

journal_title：PLoS genetics

authors： Miki TS,Carl SH,Stadler MB,Großhans H

更新日期：2016-09-15 00:00:00

abstract：:Methylcytosine-binding proteins decipher the epigenetic information encoded by DNA methylation and provide a link between DNA methylation, modification of chromatin structure, and gene silencing. VARIANT IN METHYLATION 1 (VIM1) encodes an SRA (SET- and RING-associated) domain methylcytosine-binding protein in Arabidop...

journal_title：PLoS genetics

authors： Woo HR,Dittmer TA,Richards EJ

更新日期：2008-08-15 00:00:00

abstract：:Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common an...

journal_title：PLoS genetics

authors： Derks MFL,Gjuvsland AB,Bosse M,Lopes MS,van Son M,Harlizius B,Tan BF,Hamland H,Grindflek E,Groenen MAM,Megens HJ

更新日期：2019-03-15 00:00:00

abstract：:Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the class 1 RF family: RF1Lmt/mtRF1a, RF1mt, C12orf65 and ICT1. The homolog of the essential ICT1 factor is widely distributed in bacteria and organelles and has the peculiar feature in human mi...

journal_title：PLoS genetics

authors： Akabane S,Ueda T,Nierhaus KH,Takeuchi N

更新日期：2014-09-18 00:00:00

abstract：:Adult skeletal muscles are maintained during homeostasis and regenerated upon injury by muscle stem cells (MuSCs). A heterogeneity in self-renewal, differentiation and regeneration properties has been reported for MuSCs based on their anatomical location. Although MuSCs derived from extraocular muscles (EOM) have a hi...

journal_title：PLoS genetics

authors： Evano B,Gill D,Hernando-Herraez I,Comai G,Stubbs TM,Commere PH,Reik W,Tajbakhsh S

更新日期：2020-10-30 00:00:00

abstract：:Kidney function depends on the nephron, which comprises a blood filter, a tubule that is subdivided into functionally distinct segments, and a collecting duct. How these regions arise during development is poorly understood. The zebrafish pronephros consists of two linear nephrons that develop from the intermediate me...

journal_title：PLoS genetics

authors： Wingert RA,Selleck R,Yu J,Song HD,Chen Z,Song A,Zhou Y,Thisse B,Thisse C,McMahon AP,Davidson AJ

更新日期：2007-10-01 00:00:00

abstract：:The DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 00:00:00

abstract：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 00:00:00

abstract：:Dancing, which is integrally related to music, likely has its origins close to the birth of Homo sapiens, and throughout our history, dancing has been universally practiced in all societies. We hypothesized that there are differences among individuals in aptitude, propensity, and need for dancing that may partially be...

journal_title：PLoS genetics

authors： Bachner-Melman R,Dina C,Zohar AH,Constantini N,Lerer E,Hoch S,Sella S,Nemanov L,Gritsenko I,Lichtenberg P,Granot R,Ebstein RP

更新日期：2005-09-01 00:00:00

abstract：:Despite the well-documented role of remote enhancers in controlling developmental gene expression, the mechanisms that allocate enhancers to genes are poorly characterized. Here, we investigate the cis-regulatory organization of the locus containing the Tfap2c and Bmp7 genes in vivo, using a series of engineered chrom...

journal_title：PLoS genetics

authors： Tsujimura T,Klein FA,Langenfeld K,Glaser J,Huber W,Spitz F

更新日期：2015-01-08 00:00:00

abstract：:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...

journal_title：PLoS genetics

authors： Kiando SR,Tucker NR,Castro-Vega LJ,Katz A,D'Escamard V,Tréard C,Fraher D,Albuisson J,Kadian-Dodov D,Ye Z,Austin E,Yang ML,Hunker K,Barlassina C,Cusi D,Galan P,Empana JP,Jouven X,Gimenez-Roqueplo AP,Bruneval P,Hyun

更新日期：2016-10-28 00:00:00

abstract：:High-throughput genetic screens are powerful methods to identify genes linked to a given phenotype. The catalytic null mutant of the Cas9 RNA-guided nuclease (dCas9) can be conveniently used to silence genes of interest in a method also known as CRISPRi. Here, we report a genome-wide CRISPR-dCas9 screen using a starti...

journal_title：PLoS genetics

authors： Rousset F,Cui L,Siouve E,Becavin C,Depardieu F,Bikard D

更新日期：2018-11-07 00:00:00

abstract：:The Caenorhabditis elegans class A and B synthetic multivulva (synMuv) genes redundantly antagonize an EGF/Ras pathway to prevent ectopic vulval induction. We identify a class A synMuv mutation in the promoter of the lin-3 EGF gene, establishing that lin-3 is the key biological target of the class A synMuv genes in vu...

journal_title：PLoS genetics

authors： Saffer AM,Kim DH,van Oudenaarden A,Horvitz HR

更新日期：2011-12-01 00:00:00

abstract：:Demographic models built from genetic data play important roles in illuminating prehistorical events and serving as null models in genome scans for selection. We introduce an inference method based on the joint frequency spectrum of genetic variants within and between populations. For candidate models we numerically c...

journal_title：PLoS genetics

authors： Gutenkunst RN,Hernandez RD,Williamson SH,Bustamante CD

更新日期：2009-10-01 00:00:00

abstract：:Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...

journal_title：PLoS genetics

authors： Downey CM,Horton CR,Carlson BA,Parsons TE,Hatfield DL,Hallgrímsson B,Jirik FR

更新日期：2009-08-01 00:00:00

abstract：:Replicative DNA helicases expose the two strands of the double helix to the replication apparatus, but accessory helicases are often needed to help forks move past naturally occurring hard-to-replicate sites, such as tightly bound proteins, RNA/DNA hybrids, and DNA secondary structures. Although the Schizosaccharomyce...

journal_title：PLoS genetics

authors： McDonald KR,Guise AJ,Pourbozorgi-Langroudi P,Cristea IM,Zakian VA,Capra JA,Sabouri N

更新日期：2016-09-09 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 cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While the enzyme obviously has a critical role in mammals,...

journal_title：PLoS genetics

authors： Fujihira H,Masahara-Negishi Y,Tamura M,Huang C,Harada Y,Wakana S,Takakura D,Kawasaki N,Taniguchi N,Kondoh G,Yamashita T,Funakoshi Y,Suzuki T

更新日期：2017-04-20 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：:As miRNAs are associated with normal cellular processes, deregulation of miRNAs is thought to play a causative role in many complex diseases. Nevertheless, the precise contribution of miRNAs in fibrotic lung diseases, especially the idiopathic form (IPF), remains poorly understood. Given the poor response rate of IPF ...

journal_title：PLoS genetics

authors： Lino Cardenas CL,Henaoui IS,Courcot E,Roderburg C,Cauffiez C,Aubert S,Copin MC,Wallaert B,Glowacki F,Dewaeles E,Milosevic J,Maurizio J,Tedrow J,Marcet B,Lo-Guidice JM,Kaminski N,Barbry P,Luedde T,Perrais M,Mari B,

更新日期：2013-01-01 00:00:00

abstract：:The C. elegans germline is pluripotent and mitotic, similar to self-renewing mammalian tissues. Apoptosis is triggered as part of the normal oogenesis program, and is increased in response to various stresses. Here, we examined the effect of endoplasmic reticulum (ER) stress on apoptosis in the C. elegans germline. We...

journal_title：PLoS genetics

authors： Levi-Ferber M,Salzberg Y,Safra M,Haviv-Chesner A,Bülow HE,Henis-Korenblit S

更新日期：2014-10-23 00:00:00

abstract：:Development of eye tissue is initiated by a conserved set of transcription factors termed retinal determination network (RDN). In the fruit fly Drosophila melanogaster, the zinc-finger transcription factor Glass acts directly downstream of the RDN to control identity of photoreceptor as well as non-photoreceptor cells...

journal_title：PLoS genetics

authors： Fritsch C,Bernardo-Garcia FJ,Humberg TH,Mishra AK,Miellet S,Almeida S,Frochaux MV,Deplancke B,Huber A,Sprecher SG

更新日期：2019-07-12 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：:Multicellular tubes consist of polarized cells wrapped around a central lumen and are essential structures underlying many developmental and physiological functions. In Drosophila compound eyes, each ommatidium forms a luminal matrix, the inter-rhabdomeral space, to shape and separate the key phototransduction organel...

journal_title：PLoS genetics

authors： Nie J,Mahato S,Zelhof AC

更新日期：2014-09-18 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 00:00:00

abstract：:The Drosophila genes spalt major (salm) and spalt-related (salr) encode Zn-finger transcription factors regulated by the Decapentaplegic (Dpp) signalling pathway in the wing imaginal disc. The function of these genes is required for cell survival and proliferation in the central region of the wing disc, and also for v...

journal_title：PLoS genetics

authors： Organista MF,Martín M,de Celis JM,Barrio R,López-Varea A,Esteban N,Casado M,de Celis JF

更新日期：2015-08-04 00:00:00

abstract：:Mutants of trt-1, the Caenorhabditis elegans telomerase reverse transcriptase, reproduce normally for several generations but eventually become sterile as a consequence of telomere erosion and end-to-end chromosome fusions. Telomere erosion and uncapping do not cause an increase in apoptosis in the germlines of trt-1 ...

journal_title：PLoS genetics

authors： Meier B,Clejan I,Liu Y,Lowden M,Gartner A,Hodgkin J,Ahmed S

更新日期：2006-02-01 00:00:00

abstract：:We recently discovered a secreted and diffusible midline cue called MADD-4 (an ADAMTSL) that guides migrations along the dorsoventral axis of the nematode Caenorhabditis elegans. We showed that the transmembrane receptor, UNC-40 (DCC), whose canonical ligand is the UNC-6 (netrin) guidance cue, is required for extensio...

journal_title：PLoS genetics

authors： Chan KK,Seetharaman A,Bagg R,Selman G,Zhang Y,Kim J,Roy PJ

更新日期：2014-08-14 00:00:00

abstract：:Ubiquitination of the replication clamp proliferating cell nuclear antigen (PCNA) at the conserved residue lysine (K)164 triggers postreplicative repair (PRR) to fill single-stranded gaps that result from stalled DNA polymerases. However, it has remained elusive as to whether cells engage PRR in response to replicatio...

journal_title：PLoS genetics

authors： Becker JR,Pons C,Nguyen HD,Costanzo M,Boone C,Myers CL,Bielinsky AK

更新日期：2015-11-06 00:00:00

abstract：:The model plant species Arabidopsis thaliana is successful at colonizing land that has recently undergone human-mediated disturbance. To investigate the prehistoric spread of A. thaliana, we applied approximate Bayesian computation and explicit spatial modeling to 76 European accessions sequenced at 876 nuclear loci. ...

journal_title：PLoS genetics

authors： François O,Blum MG,Jakobsson M,Rosenberg NA

更新日期：2008-05-16 00:00:00