Uncoupling of satellite DNA and centromeric function in the genus Equus.

abstract：:To understand the genetic mechanisms leading to phenotypic differentiation, it is important to identify genomic regions under selection. We scanned the genome of two chicken lines from a single trait selection experiment, where 50 generations of selection have resulted in a 9-fold difference in body weight. Analyses o...

journal_title：PLoS genetics

authors： Johansson AM,Pettersson ME,Siegel PB,Carlborg O

更新日期：2010-11-04 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：:Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 repeats on chromosome 4q. How contraction of the 4qter D4Z4 repeats c...

journal_title：PLoS genetics

authors： Zeng W,de Greef JC,Chen YY,Chien R,Kong X,Gregson HC,Winokur ST,Pyle A,Robertson KD,Schmiesing JA,Kimonis VE,Balog J,Frants RR,Ball AR Jr,Lock LF,Donovan PJ,van der Maarel SM,Yokomori K

更新日期：2009-07-01 00:00:00

abstract：:Mutational fitness effects can be measured with relatively high accuracy in viruses due to their small genome size, which facilitates full-length sequencing and genetic manipulation. Previous work has shown that animal and plant RNA viruses are very sensitive to mutation. Here, we characterize mutational fitness effec...

journal_title：PLoS genetics

authors： Domingo-Calap P,Cuevas JM,Sanjuán R

更新日期：2009-11-01 00:00:00

abstract：:The phenotypic outcome of a mutation cannot be simply mapped onto the underlying DNA variant. Instead, the phenotype is a function of the allele, the genetic background in which it occurs and the environment where the mutational effects are expressed. While the influence of genetic background on the expressivity of in...

journal_title：PLoS genetics

authors： Chari S,Dworkin I

更新日期：2013-01-01 00:00:00

abstract：:Epigenetic mechanisms suppress the transcription of transposons and DNA repeats; however, this suppression can be transiently released under prolonged heat stress. Here we show that the Arabidopsis thaliana imprinted gene SDC, which is silent during vegetative growth due to DNA methylation, is activated by heat and co...

journal_title：PLoS genetics

authors： Sanchez DH,Paszkowski J

更新日期：2014-11-20 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：:Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats a...

journal_title：PLoS genetics

authors： Krom YD,Thijssen PE,Young JM,den Hamer B,Balog J,Yao Z,Maves L,Snider L,Knopp P,Zammit PS,Rijkers T,van Engelen BG,Padberg GW,Frants RR,Tawil R,Tapscott SJ,van der Maarel SM

更新日期：2013-04-01 00:00:00

abstract：:Most biological nitrogen fixation is catalyzed by molybdenum-dependent nitrogenase, an enzyme complex comprising two component proteins that contains three different metalloclusters. Diazotrophs contain a common core of nitrogen fixation nif genes that encode the structural subunits of the enzyme and components requir...

journal_title：PLoS genetics

authors： Wang L,Zhang L,Liu Z,Zhao D,Liu X,Zhang B,Xie J,Hong Y,Li P,Chen S,Dixon R,Li J

更新日期：2013-01-01 00:00:00

abstract：:Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families displ...

journal_title：PLoS genetics

authors： Eloy P,Dehainault C,Sefta M,Aerts I,Doz F,Cassoux N,Lumbroso le Rouic L,Stoppa-Lyonnet D,Radvanyi F,Millot GA,Gauthier-Villars M,Houdayer C

更新日期：2016-02-29 00:00:00

abstract：:The C. elegans ortholog of mammalian calsyntenins, CASY-1, is an evolutionarily conserved type-I transmembrane protein that is highly enriched in the nervous system. Mammalian calsyntenins are strongly expressed at inhibitory synapses, but their role in synapse development and function is still elusive. Here, we repor...

journal_title：PLoS genetics

authors： Thapliyal S,Vasudevan A,Dong Y,Bai J,Koushika SP,Babu K

更新日期：2018-03-12 00:00:00

abstract：:In budding yeast, intragenic histone modification is linked with transcriptional elongation through the conserved regulator Paf1C. To investigate Paf1C-related function in higher eukaryotes, we analyzed the effects of loss of Paf1C on histone H3 density and patterns of H3 methylated at K4, K27, and K36 in Arabidopsis ...

journal_title：PLoS genetics

authors： Oh S,Park S,van Nocker S

更新日期：2008-08-22 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：: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：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 00:00:00

abstract：:Endoplasmic reticulum (ER) stress activates the Unfolded Protein Response, a compensatory signaling response that is mediated by the IRE-1, PERK/PEK-1, and ATF-6 pathways in metazoans. Genetic studies have implicated roles for UPR signaling in animal development and disease, but the function of the UPR under physiolog...

journal_title：PLoS genetics

authors： Richardson CE,Kinkel S,Kim DH

更新日期：2011-11-01 00:00:00

abstract：:Skin pigment patterns are important, being under strong selection for multiple roles including camouflage and UV protection. Pigment cells underlying these patterns form from adult pigment stem cells (APSCs). In zebrafish, APSCs derive from embryonic neural crest cells, but sit dormant until activated to produce pigme...

journal_title：PLoS genetics

authors： Camargo-Sosa K,Colanesi S,Müller J,Schulte-Merker S,Stemple D,Patton EE,Kelsh RN

更新日期：2019-02-27 00:00:00

abstract：:Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause re...

journal_title：PLoS genetics

authors： Cabral WA,Perdivara I,Weis M,Terajima M,Blissett AR,Chang W,Perosky JE,Makareeva EN,Mertz EL,Leikin S,Tomer KB,Kozloff KM,Eyre DR,Yamauchi M,Marini JC

更新日期：2014-06-26 00:00:00

abstract：:Calpains constitute a superfamily of Ca2+-dependent cysteine proteases, indispensable for various cellular processes. Among the 15 mammalian calpains, calpain 8/nCL-2 and calpain 9/nCL-4 are predominantly expressed in the gastrointestinal tract and are restricted to the gastric surface mucus (pit) cells in the stomach...

journal_title：PLoS genetics

authors： Hata S,Abe M,Suzuki H,Kitamura F,Toyama-Sorimachi N,Abe K,Sakimura K,Sorimachi H

更新日期：2010-07-29 00:00:00

abstract：:A novel result of the current research is the development and implementation of a unique functional phylogenomic approach that explores the genomic origins of seed plant diversification. We first use 22,833 sets of orthologs from the nuclear genomes of 101 genera across land plants to reconstruct their phylogenetic re...

journal_title：PLoS genetics

authors： Lee EK,Cibrian-Jaramillo A,Kolokotronis SO,Katari MS,Stamatakis A,Ott M,Chiu JC,Little DP,Stevenson DW,McCombie WR,Martienssen RA,Coruzzi G,Desalle R

更新日期：2011-12-01 00:00:00

abstract：:Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory mechanism that determines gene expression and hence heritable phenotypic ...

journal_title：PLoS genetics

authors： Tuğrul M,Paixão T,Barton NH,Tkačik G

更新日期：2015-11-06 00:00:00

abstract：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 00:00:00

abstract：:Communication between neoplastic cells and cells of their microenvironment is critical to cancer progression. To investigate the role of cytoneme-mediated signaling as a mechanism for distributing growth factor signaling proteins between tumor and tumor-associated cells, we analyzed EGFR and RET Drosophila tumor model...

journal_title：PLoS genetics

authors： Fereres S,Hatori R,Hatori M,Kornberg TB

更新日期：2019-09-30 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 semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation sy...

journal_title：PLoS genetics

authors： Vlangos CN,Siuniak AN,Robinson D,Chinnaiyan AM,Lyons RH Jr,Cavalcoli JD,Keegan CE

更新日期：2013-01-01 00:00:00

abstract：:The evolution of metazoans from their choanoflagellate-like unicellular ancestor coincided with the acquisition of novel biological functions to support a multicellular lifestyle, and eventually, the unique cellular and physiological demands of differentiated cell types such as those forming the nervous, muscle and im...

journal_title：PLoS genetics

authors： Frédéric MY,Lundin VF,Whiteside MD,Cueva JG,Tu DK,Kang SY,Singh H,Baillie DL,Hutter H,Goodman MB,Brinkman FS,Leroux MR

更新日期：2013-01-01 00:00:00

abstract：:The modification of transcriptional regulation has become increasingly appreciated as a major contributor to morphological evolution. However, the role of negative-acting control elements (e.g. silencers) in generating morphological diversity has been generally overlooked relative to positive-acting "enhancer" element...

journal_title：PLoS genetics

authors： Johnson WC,Ordway AJ,Watada M,Pruitt JN,Williams TM,Rebeiz M

更新日期：2015-06-26 00:00:00

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：:Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. In Iceland, this condition is caused by the L68Q mutation in the cystatin C gene, with contemporary carriers reaching an average age of only 30 years. Here...

journal_title：PLoS genetics

authors： Palsdottir A,Helgason A,Palsson S,Bjornsson HT,Bragason BT,Gretarsdottir S,Thorsteinsdottir U,Olafsson E,Stefansson K

更新日期：2008-06-20 00:00:00

abstract：:Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects population...

journal_title：PLoS genetics

authors： Gouveia MH,Bergen AW,Borda V,Nunes K,Leal TP,Ogwang MD,Yeboah ED,Mensah JE,Kinyera T,Otim I,Nabalende H,Legason ID,Mpoloka SW,Mokone GG,Kerchan P,Bhatia K,Reynolds SJ,Birtwum RB,Adjei AA,Tettey Y,Tay E,Hoover R

更新日期：2019-03-08 00:00:00