A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.

abstract：:Organisms living in seasonally variable environments utilize cues such as light and temperature to induce plastic responses, enabling them to exploit favorable seasons and avoid unfavorable ones. Local adapation can result in variation in seasonal responses, but the genetic basis and evolutionary history of this varia...

journal_title：PLoS genetics

authors： Erickson PA,Weller CA,Song DY,Bangerter AS,Schmidt P,Bergland AO

更新日期：2020-11-20 00:00:00

abstract：:The nuclear lamina is the structural scaffold of the nuclear envelope and is well known for its central role in nuclear organization and maintaining nuclear stability and shape. In the past, a number of severe human disorders have been identified to be associated with mutations in lamins. Extensive research on this to...

journal_title：PLoS genetics

authors： Link J,Jahn D,Schmitt J,Göb E,Baar J,Ortega S,Benavente R,Alsheimer M

更新日期：2013-01-01 00:00:00

abstract：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 00:00:00

abstract：:DNA- and RNA-processing pathways are integrated and interconnected in the eukaryotic nucleus to allow efficient gene expression and to maintain genomic stability. The recruitment of DNA Topoisomerase I (Topo I), an enzyme controlling DNA supercoiling and acting as a specific kinase for the SR-protein family of splicin...

journal_title：PLoS genetics

authors： Juge F,Fernando C,Fic W,Tazi J

更新日期：2010-09-16 00:00:00

abstract：:Mutants of trt-1, the Caenorhabditis elegans telomerase reverse transcriptase, reproduce normally for several generations but eventually become sterile as a consequence of telomere erosion and end-to-end chromosome fusions. Telomere erosion and uncapping do not cause an increase in apoptosis in the germlines of trt-1 ...

journal_title：PLoS genetics

authors： Meier B,Clejan I,Liu Y,Lowden M,Gartner A,Hodgkin J,Ahmed S

更新日期：2006-02-01 00:00:00

abstract：:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous muta...

journal_title：PLoS genetics

authors： Rainger J,van Beusekom E,Ramsay JK,McKie L,Al-Gazali L,Pallotta R,Saponari A,Branney P,Fisher M,Morrison H,Bicknell L,Gautier P,Perry P,Sokhi K,Sexton D,Bardakjian TM,Schneider AS,Elcioglu N,Ozkinay F,Koenig R,Még

更新日期：2011-07-01 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：:How do adapting populations navigate the tensions between the costs of gene expression and the benefits of gene products to optimize the levels of many genes at once? Here we combined independently-arising beneficial mutations that altered enzyme levels in the central metabolism of Methylobacterium extorquens to uncov...

journal_title：PLoS genetics

authors： Chou HH,Delaney NF,Draghi JA,Marx CJ

更新日期：2014-02-27 00:00:00

abstract：:Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

journal_title：PLoS genetics

authors： Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

更新日期：2016-08-25 00:00:00

abstract：:Biogenesis of mammalian mitochondrial ribosomes requires a concerted maturation of both the small (SSU) and large subunit (LSU). We demonstrate here that the m(5)C methyltransferase NSUN4, which forms a complex with MTERF4, is essential in mitochondrial ribosomal biogenesis as mitochondrial translation is abolished in...

journal_title：PLoS genetics

authors： Metodiev MD,Spåhr H,Loguercio Polosa P,Meharg C,Becker C,Altmueller J,Habermann B,Larsson NG,Ruzzenente B

更新日期：2014-02-06 00:00:00

abstract：:Complete metamorphosis (Holometaboly) is a key innovation that underlies the spectacular success of holometabolous insects. Phylogenetic analyses indicate that Holometabola form a monophyletic group that evolved from ancestors exhibiting hemimetabolous development (Hemimetaboly). However, the nature of the changes und...

journal_title：PLoS genetics

authors： Ureña E,Chafino S,Manjón C,Franch-Marro X,Martín D

更新日期：2016-05-02 00:00:00

abstract：:Candida albicans is a normal resident of the gastrointestinal tract and also the most prevalent fungal pathogen of humans. It last shared a common ancestor with the model yeast Saccharomyces cerevisiae over 300 million years ago. We describe a collection of 143 genetically matched strains of C. albicans, each of which...

journal_title：PLoS genetics

authors： Homann OR,Dea J,Noble SM,Johnson AD

更新日期：2009-12-01 00:00:00

abstract：:Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height var...

journal_title：PLoS genetics

authors： Zahnleiter D,Uebe S,Ekici AB,Hoyer J,Wiesener A,Wieczorek D,Kunstmann E,Reis A,Doerr HG,Rauch A,Thiel CT

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：:Hematopoietic stem cells (HSCs) are rare quiescent cells that continuously replenish the cellular components of the peripheral blood. Observing that the ataxia-associated gene Ataxin-1-like (Atxn1L) was highly expressed in HSCs, we examined its role in HSC function through in vitro and in vivo assays. Mice lacking Atx...

journal_title：PLoS genetics

authors： Kahle JJ,Souroullas GP,Yu P,Zohren F,Lee Y,Shaw CA,Zoghbi HY,Goodell MA

更新日期：2013-03-01 00:00:00

abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 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：:Polymyxin is the last line of defense against severe infections caused by carbapenem-resistant gram-negative pathogens. The emergence of transferable MCR-1/2 polymyxin resistance greatly challenges the renewed interest in colistin (polymyxin E) for clinical treatments. Recent studies have suggested that Moraxella spec...

journal_title：PLoS genetics

authors： Wei W,Srinivas S,Lin J,Tang Z,Wang S,Ullah S,Kota VG,Feng Y

更新日期：2018-05-14 00:00:00

abstract：:The cooperative developmental system of the social amoeba Dictyostelium discoideum is susceptible to exploitation by cheaters-strains that make more than their fair share of spores in chimerae. Laboratory screens in Dictyostelium have shown that the genetic potential for facultative cheating is high, and field surveys...

journal_title：PLoS genetics

authors： Khare A,Shaulsky G

更新日期：2010-02-26 00:00:00

abstract：:In multicellular organisms, tight regulation of gene expression ensures appropriate tissue and organismal growth throughout development. Reversible phosphorylation of the RNA Polymerase II (RNAPII) C-terminal domain (CTD) is critical for the regulation of gene expression states, but how phosphorylation is actively mod...

journal_title：PLoS genetics

authors： Ciurciu A,Duncalf L,Jonchere V,Lansdale N,Vasieva O,Glenday P,Rudenko A,Vissi E,Cobbe N,Alphey L,Bennett D

更新日期：2013-10-01 00:00:00

abstract：:Development of eye tissue is initiated by a conserved set of transcription factors termed retinal determination network (RDN). In the fruit fly Drosophila melanogaster, the zinc-finger transcription factor Glass acts directly downstream of the RDN to control identity of photoreceptor as well as non-photoreceptor cells...

journal_title：PLoS genetics

authors： Fritsch C,Bernardo-Garcia FJ,Humberg TH,Mishra AK,Miellet S,Almeida S,Frochaux MV,Deplancke B,Huber A,Sprecher SG

更新日期：2019-07-12 00:00:00

abstract：:Most genetic variants associated with disease occur within regulatory regions of the genome, underscoring the importance of defining the mechanisms underlying differences in regulation of gene expression between individuals. We discovered a pair of co-regulated, divergently oriented transcripts, AQY2 and ncFRE6, that ...

journal_title：PLoS genetics

authors： Read T,Richmond PA,Dowell RD

更新日期：2016-01-11 00:00:00

abstract：:The previously identified LRS (Loss of rDNA Silencing) domain of the nucleosome is critically important for silencing at both ribosomal DNA and telomeres. To understand the function of the LRS surface in silencing, we performed an EMS mutagenesis screen to identify suppressors of the H3 A75V LRS allele. We identified ...

journal_title：PLoS genetics

authors： Norris A,Bianchet MA,Boeke JD

更新日期：2008-12-01 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：:With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction...

journal_title：PLoS genetics

authors： Sirota M,Schaub MA,Batzoglou S,Robinson WH,Butte AJ

更新日期：2009-12-01 00:00:00

abstract：:Understanding cell proliferation mechanisms has been a long-lasting goal of the scientific community and specifically of cancer researchers. Previous genome-scale studies of cancer proliferation determinants have mainly relied on knockdown screens aimed to gauge their effects on cancer growth. This powerful approach h...

journal_title：PLoS genetics

authors： Waldman YY,Geiger T,Ruppin E

更新日期：2013-01-01 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:Qsp1 is a secreted quorum sensing peptide required for virulence of the fungal meningitis pathogen Cryptococcus neoformans. Qsp1 functions to control cell wall integrity in vegetatively growing cells and also functions in mating. Rather than acting on a cell surface receptor, Qsp1 is imported to act intracellularly vi...

journal_title：PLoS genetics

authors： Summers DK,Perry DS,Rao B,Madhani HD

更新日期：2020-09-21 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：:Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Risk in Communities (AR...

journal_title：PLoS genetics

authors： Kulminski AM,He L,Culminskaya I,Loika Y,Kernogitski Y,Arbeev KG,Loiko E,Arbeeva L,Bagley O,Duan M,Yashkin A,Fang F,Kovtun M,Ukraintseva SV,Wu D,Yashin AI

更新日期：2016-11-10 00:00:00