Pre-mRNA secondary structures influence exon recognition.

abstract：:Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs...

journal_title：PLoS genetics

authors： Mansour TA,Lucot K,Konopelski SE,Dickinson PJ,Sturges BK,Vernau KL,Choi S,Stern JA,Thomasy SM,Döring S,Verstraete FJM,Johnson EG,York D,Rebhun RB,Ho HH,Brown CT,Bannasch DL

更新日期：2018-12-06 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：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:Abnormal fetal growth is a risk factor for infant morbidity and mortality and is associated with cardiometabolic diseases in adults. Genetic influences on fetal growth can vary at different gestation times, but genome-wide association studies have been limited to birthweight. We performed trans-ethnic genome-wide meta...

journal_title：PLoS genetics

authors： Tekola-Ayele F,Zhang C,Wu J,Grantz KL,Rahman ML,Shrestha D,Ouidir M,Workalemahu T,Tsai MY

更新日期：2020-05-14 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：:Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to...

journal_title：PLoS genetics

authors： Spilker C,Nullmeier S,Grochowska KM,Schumacher A,Butnaru I,Macharadze T,Gomes GM,Yuanxiang P,Bayraktar G,Rodenstein C,Geiseler C,Kolodziej A,Lopez-Rojas J,Montag D,Angenstein F,Bär J,D'Hanis W,Roskoden T,Mikhaylova M

更新日期：2016-03-15 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In mos...

journal_title：PLoS genetics

authors： González-Vioque E,Torres-Torronteras J,Andreu AL,Martí R

更新日期：2011-03-01 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：: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：:The Rhox cluster on the mouse X chromosome contains reproduction-related homeobox genes expressed in a sexually dimorphic manner. We report that two members of the Rhox cluster, Rhox6 and 9, are regulated by de-methylation of histone H3 at lysine 27 by KDM6A, a histone demethylase with female-biased expression. Consis...

journal_title：PLoS genetics

authors： Berletch JB,Deng X,Nguyen DK,Disteche CM

更新日期：2013-05-01 00:00:00

abstract：:Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in this population could provide insight into coordinated physiological...

journal_title：PLoS genetics

authors： Xing J,Wuren T,Simonson TS,Watkins WS,Witherspoon DJ,Wu W,Qin G,Huff CD,Jorde LB,Ge RL

更新日期：2013-01-01 00:00:00

abstract：:From genomic association studies, quantitative trait loci analysis, and epigenomic mapping, it is evident that significant efforts are necessary to define genetic-epigenetic interactions and understand their role in disease susceptibility and progression. For this reason, an analysis of the effects of genetic variatio...

journal_title：PLoS genetics

authors： Delahaye F,Do C,Kong Y,Ashkar R,Salas M,Tycko B,Wapner R,Hughes F

更新日期：2018-11-19 00:00:00

abstract：:Malaria parasites follow a complex life cycle that consists of multiple stages that span from the human host to the mosquito vector. Among the species causing malaria, Plasmodium falciparum is the most lethal, with clinical symptoms manifesting during the intraerythrocytic developmental cycle (IDC). During the IDC, P....

journal_title：PLoS genetics

authors： Walzer KA,Fradin H,Emerson LY,Corcoran DL,Chi JT

更新日期：2019-12-19 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：:In Drosophila, ubiquitous expression of a short Cyclin G isoform generates extreme developmental noise estimated by fluctuating asymmetry (FA), providing a model to tackle developmental stability. This transcriptional cyclin interacts with chromatin regulators of the Enhancer of Trithorax and Polycomb (ETP) and Polyco...

journal_title：PLoS genetics

authors： Dardalhon-Cuménal D,Deraze J,Dupont CA,Ribeiro V,Coléno-Costes A,Pouch J,Le Crom S,Thomassin H,Debat V,Randsholt NB,Peronnet F

更新日期：2018-07-11 00:00:00

abstract：:The genetic origin of human skin pigmentation remains an open question in biology. Several skin disorders and diseases originate from mutations in conserved pigmentation genes, including albinism, vitiligo, and melanoma. Teleosts possess the capacity to modify their pigmentation to adapt to their environmental backgro...

journal_title：PLoS genetics

authors： Madelaine R,Ngo KJ,Skariah G,Mourrain P

更新日期：2020-12-10 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：:A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differenti...

journal_title：PLoS genetics

authors： Cole SW

更新日期：2014-08-28 00:00:00

abstract：:Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders are not well understood. Among recent advances is that the disease sta...

journal_title：PLoS genetics

authors： Xie HB,Cammarato A,Rajasekaran NS,Zhang H,Suggs JA,Lin HC,Bernstein SI,Benjamin IJ,Golic KG

更新日期：2013-06-01 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：:Marine viruses play a critical role not only in the global geochemical cycles but also in the biology and evolution of their hosts. Despite their importance, viral diversity remains underexplored mostly due to sampling and cultivation challenges. Direct sequencing approaches such as viromics has provided new insights ...

journal_title：PLoS genetics

authors： López-Pérez M,Haro-Moreno JM,Gonzalez-Serrano R,Parras-Moltó M,Rodriguez-Valera F

更新日期：2017-09-25 00:00:00

abstract：:The deregulation of metabolism is a hallmark of aging. As such, changes in the expression of metabolic genes and the profiles of amino acid levels are features associated with aging animals. We previously reported that the levels of most amino acids decline with age in Caenorhabditis elegans (C. elegans). Glycine, in ...

journal_title：PLoS genetics

authors： Liu YJ,Janssens GE,McIntyre RL,Molenaars M,Kamble R,Gao AW,Jongejan A,Weeghel MV,MacInnes AW,Houtkooper RH

更新日期：2019-03-07 00:00:00

abstract：:Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV. Here, we characterize what are likely to be the youngest TRIM genes in the human genome....

journal_title：PLoS genetics

authors： Han K,Lou DI,Sawyer SL

更新日期：2011-12-01 00:00:00

abstract：:A crucial step in the development of muscle cells in all metazoan animals is the assembly and anchorage of the sarcomere, the essential repeat unit responsible for muscle contraction. In Caenorhabditis elegans, many of the critical proteins involved in this process have been uncovered through mutational screens focusi...

journal_title：PLoS genetics

authors： Meissner B,Warner A,Wong K,Dube N,Lorch A,McKay SJ,Khattra J,Rogalski T,Somasiri A,Chaudhry I,Fox RM,Miller DM 3rd,Baillie DL,Holt RA,Jones SJ,Marra MA,Moerman DG

更新日期：2009-06-01 00:00:00

abstract：:Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...

journal_title：PLoS genetics

authors： Mulderrig L,Garaycoechea JI

更新日期：2020-04-09 00:00:00

abstract：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:Allele age has long been a focus of population genetic research, primarily because it can be an important clue to the fitness effects of an allele. By virtue of their effects on fitness, alleles under directional selection are expected to be younger than neutral alleles of the same frequency. We developed a new coales...

journal_title：PLoS genetics

authors： Platt A,Pivirotto A,Knoblauch J,Hey J

更新日期：2019-08-19 00:00:00

abstract：:High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circula...

journal_title：PLoS genetics

authors： Bigham A,Bauchet M,Pinto D,Mao X,Akey JM,Mei R,Scherer SW,Julian CG,Wilson MJ,López Herráez D,Brutsaert T,Parra EJ,Moore LG,Shriver MD

更新日期：2010-09-09 00:00:00

abstract：:Because cohesion prevents sister-chromatid separation and spindle elongation, cohesion dissolution may trigger these two events simultaneously. However, the relatively normal spindle elongation kinetics in yeast cohesin mutants indicates an additional mechanism for the temporal control of spindle elongation. Here we s...

journal_title：PLoS genetics

authors： Liang F,Richmond D,Wang Y

更新日期：2013-01-01 00:00:00

abstract：:For many decades, Salmonella enterica has been subdivided by serological properties into serovars or further subdivided for epidemiological tracing by a variety of diagnostic tests with higher resolution. Recently, it has been proposed that so-called eBurst groups (eBGs) based on the alleles of seven housekeeping gene...

journal_title：PLoS genetics

authors： Alikhan NF,Zhou Z,Sergeant MJ,Achtman M

更新日期：2018-04-05 00:00:00