A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse.

abstract：:Patients with neonatal severe hyperparathyroidism (NSHPT) are homozygous for the calcium-sensing receptor (CaR) mutation and have very high circulating PTH, abundant parathyroid hyperplasia, and severe life-threatening hypercalcemia. Mice with homozygous deletion of CaR mimic the syndrome of NSHPT. To determine effect...

journal_title：PLoS genetics

authors： Liu J,Lv F,Sun W,Tao C,Ding G,Karaplis A,Brown E,Goltzman D,Miao D

更新日期：2011-09-01 00:00:00

abstract：:Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (R...

journal_title：PLoS genetics

authors： Simeonova I,Lejour V,Bardot B,Bouarich-Bourimi R,Morin A,Fang M,Charbonnier L,Toledo F

更新日期：2012-06-01 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：: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 conserved protein kinase Sch9 is a central player in the nutrient-induced signaling network in yeast, although only few of its direct substrates are known. We now provide evidence that Sch9 controls the vacuolar proton pump (V-ATPase) to maintain cellular pH homeostasis and ageing. A synthetic sick phenotype arise...

journal_title：PLoS genetics

authors： Wilms T,Swinnen E,Eskes E,Dolz-Edo L,Uwineza A,Van Essche R,Rosseels J,Zabrocki P,Cameroni E,Franssens V,De Virgilio C,Smits GJ,Winderickx J

更新日期：2017-06-12 00:00:00

abstract：:Light and microRNAs (miRNAs) are key external and internal signals for plant development, respectively. However, the relationship between the light signaling and miRNA biogenesis pathways remains unknown. Here we found that miRNA processer proteins DCL1 and HYL1 interact with a basic helix-loop-helix (bHLH) transcript...

journal_title：PLoS genetics

authors： Sun Z,Li M,Zhou Y,Guo T,Liu Y,Zhang H,Fang Y

更新日期：2018-03-09 00:00:00

abstract：:rs143383 is a C to T transition SNP located in the 5'untranslated region (5'UTR) of the growth differentiation factor 5 gene GDF5. The T allele of the SNP is associated with increased risk of osteoarthritis (OA) in Europeans and in Asians. This susceptibility is mediated by the T allele producing less GDF5 transcript ...

journal_title：PLoS genetics

authors： Syddall CM,Reynard LN,Young DA,Loughlin J

更新日期：2013-06-01 00:00:00

abstract：:Human FTO gene variants are associated with body mass index and type 2 diabetes. Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO expression or splicing are the cause of obesity or if regulatory elements within intron 1 influence upstream or downstream genes. We tested the idea th...

journal_title：PLoS genetics

authors： Church C,Lee S,Bagg EA,McTaggart JS,Deacon R,Gerken T,Lee A,Moir L,Mecinović J,Quwailid MM,Schofield CJ,Ashcroft FM,Cox RD

更新日期：2009-08-01 00:00:00

abstract：:Respiratory infectious diseases are the third cause of worldwide death. The nasopharynx is the portal of entry and the ecological niche of many microorganisms, of which some are pathogenic to humans, such as Neisseria meningitidis and Moraxella catarrhalis. These microbes possess several surface structures that intera...

journal_title：PLoS genetics

authors： Veyrier FJ,Biais N,Morales P,Belkacem N,Guilhen C,Ranjeva S,Sismeiro O,Péhau-Arnaudet G,Rocha EP,Werts C,Taha MK,Boneca IG

更新日期：2015-07-10 00:00:00

abstract：:Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...

journal_title：PLoS genetics

authors： Chance RK,Bashaw GJ

更新日期：2015-09-03 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：:In a previous study, we showed that centromere repositioning, that is the shift along the chromosome of the centromeric function without DNA sequence rearrangement, has occurred frequently during the evolution of the genus Equus. In this work, the analysis of the chromosomal distribution of satellite tandem repeats in...

journal_title：PLoS genetics

authors： Piras FM,Nergadze SG,Magnani E,Bertoni L,Attolini C,Khoriauli L,Raimondi E,Giulotto E

更新日期：2010-02-12 00:00:00

abstract：:Epigenetic regulation of gene expression, including by Polycomb Group (PcG) proteins, may depend on heritable chromatin states, but how these states can be propagated through mitosis is unclear. Using immunofluorescence and biochemical fractionation, we find PcG proteins associated with mitotic chromosomes in Drosophi...

journal_title：PLoS genetics

authors： Follmer NE,Wani AH,Francis NJ

更新日期：2012-01-01 00:00:00

abstract：:Genome-wide association studies have shown that pleiotropy is a common phenomenon that can potentially be exploited for enhanced detection of susceptibility loci. We propose heritability informed power optimization (HIPO) for conducting powerful pleiotropic analysis using summary-level association statistics. We find ...

journal_title：PLoS genetics

authors： Qi G,Chatterjee N

更新日期：2018-10-05 00:00:00

abstract：:House dust mites are common pests with an unusual evolutionary history, being descendants of a parasitic ancestor. Transition to parasitism is frequently accompanied by genome rearrangements, possibly to accommodate the genetic change needed to access new ecology. Transposable element (TE) activity is a source of geno...

journal_title：PLoS genetics

authors： Mondal M,Klimov P,Flynt AS

更新日期：2018-01-29 00:00:00

abstract：:Although kinetochores normally play a key role in sister chromatid separation and segregation, chromosome fragments lacking kinetochores (acentrics) can in some cases separate and segregate successfully. In Drosophila neuroblasts, acentric chromosomes undergo delayed, but otherwise normal sister separation, revealing ...

journal_title：PLoS genetics

authors： Vicars H,Karg T,Warecki B,Bast I,Sullivan W

更新日期：2021-01-29 00:00:00

abstract：:Gene conversion, the non-reciprocal exchange of genetic information, is one of the potential products of meiotic recombination. It can shape genome structure by acting on repetitive DNA elements, influence allele frequencies at the population level, and is known to be implicated in human disease. But gene conversion i...

journal_title：PLoS genetics

authors： Sun Y,Ambrose JH,Haughey BS,Webster TD,Pierrie SN,Muñoz DF,Wellman EC,Cherian S,Lewis SM,Berchowitz LE,Copenhaver GP

更新日期：2012-01-01 00:00:00

abstract：:In haploid cells of Ogataea (Hansenula) polymorpha an environmental signal, nitrogen starvation, induces a reversible change in the structure of a chromosome. This process, mating-type switching, inverts a 19-kb DNA region to place either MATa or MATα genes under centromeric repression of transcription, depending on t...

journal_title：PLoS genetics

authors： Hanson SJ,Byrne KP,Wolfe KH

更新日期：2017-11-27 00:00:00

abstract：:In all sexually reproducing organisms, cells of the germ line must transition from mitosis to meiosis. In mice, retinoic acid (RA), the extrinsic signal for meiotic initiation, activates transcription of Stra8, which is required for meiotic DNA replication and the subsequent processes of meiotic prophase. Here we repo...

journal_title：PLoS genetics

authors： Koubova J,Hu YC,Bhattacharyya T,Soh YQ,Gill ME,Goodheart ML,Hogarth CA,Griswold MD,Page DC

更新日期：2014-08-07 00:00:00

abstract：:Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephroli...

journal_title：PLoS genetics

authors： Urabe Y,Tanikawa C,Takahashi A,Okada Y,Morizono T,Tsunoda T,Kamatani N,Kohri K,Chayama K,Kubo M,Nakamura Y,Matsuda K

更新日期：2012-01-01 00:00:00

abstract：:Quantitative genetic analysis has long been used to study how natural variation of genotype can influence an organism's phenotype. While most studies have focused on genetic determinants of phenotypic average, it is rapidly becoming understood that stochastic noise is genetically determined. However, it is not known h...

journal_title：PLoS genetics

authors： Jimenez-Gomez JM,Corwin JA,Joseph B,Maloof JN,Kliebenstein DJ

更新日期：2011-09-01 00:00:00

abstract：:Male fertility requires the continuous production of high quality motile spermatozoa in abundance. Alterations in all three metrics cause oligoasthenoteratozoospermia, the leading cause of human sub/infertility. Post-mitotic spermatogenesis inclusive of several meiotic stages and spermiogenesis (terminal spermatozoa d...

journal_title：PLoS genetics

authors： Comazzetto S,Di Giacomo M,Rasmussen KD,Much C,Azzi C,Perlas E,Morgan M,O'Carroll D

更新日期：2014-10-16 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:The contributions of the Sgs1, Mph1, and Srs2 DNA helicases during mitotic double-strand break (DSB) repair in yeast were investigated using a gap-repair assay. A diverged chromosomal substrate was used as a repair template for the gapped plasmid, allowing mismatch-containing heteroduplex DNA (hDNA) formed during reco...

journal_title：PLoS genetics

authors： Mitchel K,Lehner K,Jinks-Robertson S

更新日期：2013-01-01 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：: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：:Central questions in regenerative biology include how stem cells are maintained and how they transition from self-renewal to differentiation. Germline stem cells (GSCs) in Caeno-rhabditis elegans provide a tractable in vivo model to address these questions. In this system, Notch signaling and PUF RNA binding proteins,...

journal_title：PLoS genetics

authors： Shin H,Haupt KA,Kershner AM,Kroll-Conner P,Wickens M,Kimble J

更新日期：2017-12-12 00:00:00

abstract：:Shifts between epigenetic states of transcriptional activity are typically correlated with changes in epigenetic marks. However, exceptions to this rule suggest the existence of additional, as yet uncharacterized, layers of epigenetic regulation. MOM1, a protein of 2,001 amino acids that acts as a transcriptional sile...

journal_title：PLoS genetics

authors： Nishimura T,Molinard G,Petty TJ,Broger L,Gabus C,Halazonetis TD,Thore S,Paszkowski J

更新日期：2012-02-01 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：:Quality control (QC) is a critical step in large-scale studies of genetic variation. While, on average, high-throughput single nucleotide polymorphism (SNP) genotyping assays are now very accurate, the errors that remain tend to cluster into a small percentage of "problem" SNPs, which exhibit unusually high error rate...

journal_title：PLoS genetics

authors： Scheet P,Stephens M

更新日期：2008-08-01 00:00:00