Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians.

abstract：:Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshi...

journal_title：PLoS genetics

authors： Rainger J,Keighren M,Keene DR,Charbonneau NL,Rainger JK,Fisher M,Mella S,Huang JT,Rose L,van't Hof R,Sakai LY,Jackson IJ,Fitzpatrick DR

更新日期：2013-01-01 00:00:00

abstract：:There is growing evidence that gene expression profiling of peripheral blood cells is a valuable tool for assessing gene signatures related to exposure, drug-response, or disease. However, the true promise of this approach can not be estimated until the scientific community has robust baseline data describing variatio...

journal_title：PLoS genetics

authors： Dumeaux V,Olsen KS,Nuel G,Paulssen RH,Børresen-Dale AL,Lund E

更新日期：2010-03-12 00:00:00

abstract：:Mycoplasmas are commonly described as the simplest self-replicating organisms, whose evolution was mainly characterized by genome downsizing with a proposed evolutionary scenario similar to that of obligate intracellular bacteria such as insect endosymbionts. Thus far, analysis of mycoplasma genomes indicates a low le...

journal_title：PLoS genetics

authors： Sirand-Pugnet P,Lartigue C,Marenda M,Jacob D,Barré A,Barbe V,Schenowitz C,Mangenot S,Couloux A,Segurens B,de Daruvar A,Blanchard A,Citti C

更新日期：2007-05-18 00:00:00

abstract：:The neural crest (NC) is a vertebrate-specific cell type that contributes to a wide range of different tissues across all three germ layers. The gene regulatory network (GRN) responsible for the formation of neural crest is conserved across vertebrates. Central to the induction of the NC GRN are AP-2 and SoxE transcri...

journal_title：PLoS genetics

authors： Dooley CM,Wali N,Sealy IM,White RJ,Stemple DL,Collins JE,Busch-Nentwich EM

更新日期：2019-06-14 00:00:00

abstract：:The genetics of domestication has been extensively studied ever since the rediscovery of Mendel's law of inheritance and much has been learned about the genetic control of trait differences between crops and their ancestors. Here, we ask how domestication has altered genetic architecture by comparing the genetic archi...

journal_title：PLoS genetics

authors： Chen Q,Samayoa LF,Yang CJ,Bradbury PJ,Olukolu BA,Neumeyer MA,Romay MC,Sun Q,Lorant A,Buckler ES,Ross-Ibarra J,Holland JB,Doebley JF

更新日期：2020-05-14 00:00:00

abstract：:Fpr1 (FK506-sensitive proline rotamase 1), a protein of the FKBP12 (FK506-binding protein 12 kDa) family in Saccharomyces cerevisiae, is a primary target for the immunosuppressive agents FK506 and rapamycin. Fpr1 inhibits calcineurin and TORC1 (target of rapamycin complex 1) when bound to FK506 and rapamycin, respecti...

journal_title：PLoS genetics

authors： Kasahara K,Nakayama R,Shiwa Y,Kanesaki Y,Ishige T,Yoshikawa H,Kokubo T

更新日期：2020-06-30 00:00:00

abstract：:Detailed information about stage-specific changes in gene expression is crucial for the understanding of the gene regulatory networks underlying development. Here, we describe the global gene expression dynamics during early flower development, a key process in the life cycle of a plant, during which floral patterning...

journal_title：PLoS genetics

authors： Wellmer F,Alves-Ferreira M,Dubois A,Riechmann JL,Meyerowitz EM

更新日期：2006-07-01 00:00:00

abstract：:The number and distribution of crossover events are tightly regulated at prophase of meiosis I. The resolution of Holliday junctions by structure-specific endonucleases, including MUS-81, SLX-1, XPF-1 and GEN-1, is one of the main mechanisms proposed for crossover formation. However, how these nucleases coordinately r...

journal_title：PLoS genetics

authors： Saito TT,Lui DY,Kim HM,Meyer K,Colaiácovo MP

更新日期：2013-01-01 00:00:00

abstract：:The bacterium Neisseria meningitidis is commonly found harmlessly colonising the mucosal surfaces of the human nasopharynx. Occasionally strains can invade host tissues causing septicaemia and meningitis, making the bacterium a major cause of morbidity and mortality in both the developed and developing world. The spec...

journal_title：PLoS genetics

authors： Bentley SD,Vernikos GS,Snyder LA,Churcher C,Arrowsmith C,Chillingworth T,Cronin A,Davis PH,Holroyd NE,Jagels K,Maddison M,Moule S,Rabbinowitsch E,Sharp S,Unwin L,Whitehead S,Quail MA,Achtman M,Barrell B,Saunders NJ

更新日期：2007-02-16 00:00:00

abstract：:Little is known about contacts in the spliceosome between proteins and intron nucleotides surrounding the pre-mRNA branch-site and their dynamics during splicing. We investigated protein-pre-mRNA interactions by UV-induced crosslinking of purified yeast B(act) spliceosomes formed on site-specifically labeled pre-mRNA,...

journal_title：PLoS genetics

authors： Schneider C,Agafonov DE,Schmitzová J,Hartmuth K,Fabrizio P,Lührmann R

更新日期：2015-09-22 00:00:00

abstract：:Colicins are plasmid-encoded narrow spectrum antibiotics that are synthesized by strains of Escherichia coli and govern intraspecies competition. In a previous report, we demonstrated that the global transcriptional factor IscR, co dependently with the master regulator of the DNA damage response, LexA, delays inductio...

journal_title：PLoS genetics

authors： Kamenšek S,Browning DF,Podlesek Z,Busby SJ,Žgur-Bertok D,Butala M

更新日期：2015-06-26 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Recent studies in population of European ancestry have shown that 30% ~ 50% of heritability for human complex traits such as height and body mass index, and common diseases such as schizophrenia and rheumatoid arthritis, can be captured by common SNPs and that genetic variation attributed to chromosomes are in proport...

journal_title：PLoS genetics

authors： Yang J,Lee T,Kim J,Cho MC,Han BG,Lee JY,Lee HJ,Cho S,Kim H

更新日期：2013-01-01 00:00:00

abstract：:The Rif1 protein is a negative regulator of DNA replication initiation in eukaryotes. Here we show that budding yeast Rif1 inhibits DNA replication initiation at the rDNA locus. Absence of Rif1, or disruption of its interaction with PP1/Glc7 phosphatase, leads to more intensive rDNA replication. The effect of Rif1-Glc...

journal_title：PLoS genetics

authors： Shyian M,Mattarocci S,Albert B,Hafner L,Lezaja A,Costanzo M,Boone C,Shore D

更新日期：2016-11-07 00:00:00

abstract：:The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellu...

journal_title：PLoS genetics

authors： Auro K,Alanne M,Kristiansson K,Silander K,Kuulasmaa K,Salomaa V,Peltonen L,Perola M

更新日期：2007-07-01 00:00:00

abstract：:Most B cell lymphomas originate from B cells that have germinal center (GC) experience and bear chromosome translocations and numerous point mutations. GC B cells remodel their immunoglobulin (Ig) genes by somatic hypermutation (SHM) and class switch recombination (CSR) in their Ig genes. Activation Induced Deaminase ...

journal_title：PLoS genetics

authors： Delgado P,Álvarez-Prado ÁF,Marina-Zárate E,Sernandez IV,Mur SM,de la Barrera J,Sanchez-Cabo F,Cañamero M,de Molina A,Belver L,de Yébenes VG,Ramiro AR

更新日期：2020-12-23 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：:With the increasing focus of genetic association on the identification of trait-associated rare variants through sequencing, it is important to identify the most cost-effective sequencing strategies for these studies. Deep sequencing will accurately detect and genotype the most rare variants per individual, but may li...

journal_title：PLoS genetics

authors： Rashkin S,Jun G,Chen S,Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).,Abecasis GR

更新日期：2017-06-22 00:00:00

abstract：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 00:00:00

abstract：:One of the crucial steps in endochondral bone formation is the replacement of a cartilage matrix produced by chondrocytes with bone trabeculae made by osteoblasts. However, the precise sources of osteoblasts responsible for trabecular bone formation have not been fully defined. To investigate whether cells derived fro...

journal_title：PLoS genetics

authors： Zhou X,von der Mark K,Henry S,Norton W,Adams H,de Crombrugghe B

更新日期：2014-12-04 00:00:00

abstract：:The Drosophila testis is a well-established system for studying stem cell self-renewal and competition. In this tissue, the niche supports two stem cell populations, germ line stem cells (GSCs), which give rise to sperm, and somatic stem cells called cyst stem cells (CySCs), which support GSCs and their descendants. I...

journal_title：PLoS genetics

authors： Amoyel M,Anderson J,Suisse A,Glasner J,Bach EA

更新日期：2016-01-25 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:The origin and evolution of new microRNAs (miRNAs) is important because they can impact the transcriptome broadly. As miRNAs can potentially emerge constantly and rapidly, their rates of birth and evolution have been extensively debated. However, most new miRNAs identified appear not to be biologically significant. Af...

journal_title：PLoS genetics

authors： Lyu Y,Shen Y,Li H,Chen Y,Guo L,Zhao Y,Hungate E,Shi S,Wu CI,Tang T

更新日期：2014-01-01 00:00:00

abstract：:The neonatal intestine is a very complex and dynamic organ that must rapidly adapt and remodel in response to a barrage of environmental stimuli during the first few postnatal weeks. Recent studies demonstrate that the zinc finger transcriptional repressor Blimp1/Prdm1 plays an essential role governing postnatal repro...

journal_title：PLoS genetics

authors： Mould AW,Morgan MA,Nelson AC,Bikoff EK,Robertson EJ

更新日期：2015-07-09 00:00:00

abstract：:Differentiating cells interact with their extracellular environment over time. Chondrocytes embed themselves in a proteoglycan (PG)-rich matrix, then undergo a developmental transition, termed "maturation," when they express ihh to induce bone in the overlying tissue, the perichondrium. Here, we ask whether PGs regula...

journal_title：PLoS genetics

authors： Eames BF,Yan YL,Swartz ME,Levic DS,Knapik EW,Postlethwait JH,Kimmel CB

更新日期：2011-08-01 00:00:00

abstract：:UV-induced DNA damage causes repression of RNA synthesis. Following the removal of DNA lesions, transcription recovery operates through a process that is not understood yet. Here we show that knocking-out of the histone methyltransferase DOT1L in mouse embryonic fibroblasts (MEF(DOT1L)) leads to a UV hypersensitivity ...

journal_title：PLoS genetics

authors： Oksenych V,Zhovmer A,Ziani S,Mari PO,Eberova J,Nardo T,Stefanini M,Giglia-Mari G,Egly JM,Coin F

更新日期：2013-01-01 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:Synthetic biology aims at (re-)programming living cells like computers to perform new functions for a variety of applications. Initial work rested on transcription factors, but regulatory RNAs have recently gained much attention due to their high programmability. However, functional circuits mainly implemented with re...

journal_title：PLoS genetics

authors： Rosado A,Cordero T,Rodrigo G

更新日期：2018-07-19 00:00:00

abstract：:Arthrobacter sp. strains are among the most frequently isolated, indigenous, aerobic bacterial genera found in soils. Member of the genus are metabolically and ecologically diverse and have the ability to survive in environmentally harsh conditions for extended periods of time. The genome of Arthrobacter aurescens str...

journal_title：PLoS genetics

authors： Mongodin EF,Shapir N,Daugherty SC,DeBoy RT,Emerson JB,Shvartzbeyn A,Radune D,Vamathevan J,Riggs F,Grinberg V,Khouri H,Wackett LP,Nelson KE,Sadowsky MJ

更新日期：2006-12-01 00:00:00

abstract：:Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA t...

journal_title：PLoS genetics

authors： Abraham G,Tye-Din JA,Bhalala OG,Kowalczyk A,Zobel J,Inouye M

更新日期：2014-02-13 00:00:00