Intronic Alus influence alternative splicing.

abstract：:During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...

journal_title：PLoS genetics

authors： Pattabiraman D,Roelens B,Woglar A,Villeneuve AM

更新日期：2017-03-24 00:00:00

abstract：:X-chromosome inactivation (XCI) in female lymphocytes is uniquely regulated, as the inactive X (Xi) chromosome lacks localized Xist RNA and heterochromatin modifications. Epigenetic profiling reveals that Xist RNA is lost from the Xi at the pro-B cell stage and that additional heterochromatic modifications are gradual...

journal_title：PLoS genetics

authors： Syrett CM,Sindhava V,Hodawadekar S,Myles A,Liang G,Zhang Y,Nandi S,Cancro M,Atchison M,Anguera MC

更新日期：2017-10-09 00:00:00

abstract：:We introduce a flexible and robust simulation-based framework to infer demographic parameters from the site frequency spectrum (SFS) computed on large genomic datasets. We show that our composite-likelihood approach allows one to study evolutionary models of arbitrary complexity, which cannot be tackled by other curre...

journal_title：PLoS genetics

authors： Excoffier L,Dupanloup I,Huerta-Sánchez E,Sousa VC,Foll M

更新日期：2013-10-01 00:00:00

abstract：:The cerebellum is a pivotal centre for the integration and processing of motor and sensory information. Its extended development into the postnatal period makes this structure vulnerable to a variety of pathologies, including neoplasia. These properties have prompted intensive investigations that reveal not only devel...

journal_title：PLoS genetics

authors： van Essen MJ,Nayler S,Becker EBE,Jacob J

更新日期：2020-04-16 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：:While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines (LCL), skin, and fat. The samples ...

journal_title：PLoS genetics

authors： Nica AC,Parts L,Glass D,Nisbet J,Barrett A,Sekowska M,Travers M,Potter S,Grundberg E,Small K,Hedman AK,Bataille V,Tzenova Bell J,Surdulescu G,Dimas AS,Ingle C,Nestle FO,di Meglio P,Min JL,Wilk A,Hammond CJ,Hassa

更新日期：2011-02-03 00:00:00

abstract：:Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...

journal_title：PLoS genetics

authors： Muggenthaler MM,Chowdhury B,Hasan SN,Cross HE,Mark B,Harlalka GV,Patton MA,Ishida M,Behr ER,Sharma S,Zahka K,Faqeih E,Blakley B,Jackson M,Lees M,Dolinsky V,Cross L,Stanier P,Salter C,Baple EL,Alkuraya FS,Crosby

更新日期：2017-01-12 00:00:00

abstract：:Rheumatoid arthritis is a chronic inflammatory disease with a high prevalence and substantial socioeconomic burden. Despite intense research efforts, its aetiology and pathogenesis remain poorly understood. To identify novel genes and/or cellular pathways involved in the pathogenesis of the disease, we utilized a well...

journal_title：PLoS genetics

authors： Aidinis V,Carninci P,Armaka M,Witke W,Harokopos V,Pavelka N,Koczan D,Argyropoulos C,Thwin MM,Möller S,Waki K,Gopalakrishnakone P,Ricciardi-Castagnoli P,Thiesen HJ,Hayashizaki Y,Kollias G

更新日期：2005-10-01 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：:RAD6 is known to suppress duplication-mediated gross chromosomal rearrangements (GCRs) but not single-copy sequence mediated GCRs. Here, we found that the RAD6- and RAD18-dependent post-replication repair (PRR) and the RAD5-, MMS2-, UBC13-dependent error-free PRR branch acted in concert with the replication stress che...

journal_title：PLoS genetics

authors： Putnam CD,Hayes TK,Kolodner RD

更新日期：2010-05-06 00:00:00

abstract：:In C. elegans, removal of the germline extends lifespan significantly. We demonstrate that the nuclear hormone receptor, NHR-49, enables the response to this physiological change by increasing the expression of genes involved in mitochondrial β-oxidation and fatty-acid desaturation. The coordinated augmentation of the...

journal_title：PLoS genetics

authors： Ratnappan R,Amrit FR,Chen SW,Gill H,Holden K,Ward J,Yamamoto KR,Olsen CP,Ghazi A

更新日期：2014-12-04 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：:Long interspersed nuclear element-1s (LINE-1s, or L1s) are an active family of retrotransposable elements that continue to mutate mammalian genomes. Despite the large contribution of L1 to mammalian genome evolution, we do not know where active L1 particles (particles in the process of retrotransposition) are located ...

journal_title：PLoS genetics

authors： Horn AV,Celic I,Dong C,Martirosyan I,Han JS

更新日期：2017-06-06 00:00:00

abstract：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 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：:Teleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities to study the formation of sex chromosomes and the mechanisms driving the birth of new master sex determining (MSD) genes. However, the evolutionary interplay between the sex chromosomes and the MSD genes t...

journal_title：PLoS genetics

authors： Pan Q,Feron R,Yano A,Guyomard R,Jouanno E,Vigouroux E,Wen M,Busnel JM,Bobe J,Concordet JP,Parrinello H,Journot L,Klopp C,Lluch J,Roques C,Postlethwait J,Schartl M,Herpin A,Guiguen Y

更新日期：2019-08-22 00:00:00

abstract：:It is now widely recognized that robustness is an inherent property of biological systems [1],[2],[3]. The contribution of close sequence homologs to genetic robustness against null mutations has been previously demonstrated in simple organisms [4],[5]. In this paper we investigate in detail the contribution of gene d...

journal_title：PLoS genetics

authors： Hsiao TL,Vitkup D

更新日期：2008-03-14 00:00:00

abstract：:A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional rep...

journal_title：PLoS genetics

authors： Sanchez JC,Kwan EX,Pohl TJ,Amemiya HM,Raghuraman MK,Brewer BJ

更新日期：2017-10-16 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

abstract：:NURF is a conserved higher eukaryotic ISWI-containing chromatin remodeling complex that catalyzes ATP-dependent nucleosome sliding. By sliding nucleosomes, NURF is able to alter chromatin dynamics to control transcription and genome organization. Previous biochemical and genetic analysis of the specificity-subunit of ...

journal_title：PLoS genetics

authors： Kwon SY,Grisan V,Jang B,Herbert J,Badenhorst P

更新日期：2016-04-05 00:00:00

abstract：:Polycomb (PcG) regulation has been thought to produce stable long-term gene silencing. Genomic analyses in Drosophila and mammals, however, have shown that it targets many genes, which can switch state during development. Genetic evidence indicates that critical for the active state of PcG target genes are the histone...

journal_title：PLoS genetics

authors： Schwartz YB,Kahn TG,Stenberg P,Ohno K,Bourgon R,Pirrotta V

更新日期：2010-01-01 00:00:00

abstract：:Size control is essential for all proliferating cells, and is thought to be regulated by checkpoints that couple cell size to cell cycle progression. The aberrant cell-size phenotypes caused by mutations in the retinoblastoma (RB) tumor suppressor pathway are consistent with a role in size checkpoint control, but indi...

journal_title：PLoS genetics

authors： Fang SC,de los Reyes C,Umen JG

更新日期：2006-10-13 00:00:00

abstract：:Protein homeostasis is critical for cell survival and functions during stress and is regulated at both RNA and protein levels. However, how the cell integrates RNA-processing programs with post-translational protein quality control systems is unknown. Transactive response DNA-binding protein (TARDBP/TDP-43) is an RNA-...

journal_title：PLoS genetics

authors： Zhang T,Baldie G,Periz G,Wang J

更新日期：2014-10-16 00:00:00

abstract：:Dietary restriction (DR) is the most consistent means of extending longevity in a wide range of organisms. A growing body of literature indicates that mitochondria play an important role in longevity extension by DR, but the impact of mitochondrial genotypes on the DR process have received little attention. Mitochondr...

journal_title：PLoS genetics

authors： Zhu CT,Ingelmo P,Rand DM

更新日期：2014-05-15 00:00:00

abstract：:Hypermutation of the immunoglobulin (Ig) genes requires Activation Induced cytidine Deaminase (AID) and transcription, but it remains unclear why other transcribed genes of B cells do not mutate. We describe a reporter transgene crippled by hypermutation when inserted into or near the Ig light chain (IgL) locus of the...

journal_title：PLoS genetics

authors： Blagodatski A,Batrak V,Schmidl S,Schoetz U,Caldwell RB,Arakawa H,Buerstedde JM

更新日期：2009-01-01 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：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 00:00:00

abstract：:Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...

journal_title：PLoS genetics

authors： Seberg HE,Van Otterloo E,Loftus SK,Liu H,Bonde G,Sompallae R,Gildea DE,Santana JF,Manak JR,Pavan WJ,Williams T,Cornell RA

更新日期：2017-03-01 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：:The relationship between population size, inbreeding, loss of genetic variation and evolutionary potential of fitness traits is still unresolved, and large-scale empirical studies testing theoretical expectations are surprisingly scarce. Here we present a highly replicated experimental evolution setup with 120 lines o...

journal_title：PLoS genetics

authors： Ørsted M,Hoffmann AA,Sverrisdóttir E,Nielsen KL,Kristensen TN

更新日期：2019-06-12 00:00:00