An allele of an ancestral transcription factor dependent on a horizontally acquired gene product.

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：:AMP-activated protein kinase (AMPK) is an evolutionarily conserved master regulator of metabolism and a therapeutic target in type 2 diabetes. As an energy sensor, AMPK activity is responsive to both metabolic inputs, for instance the ratio of AMP to ATP, and numerous hormonal cues. As in mammals, each of two genes, a...

journal_title：PLoS genetics

authors： Cunningham KA,Bouagnon AD,Barros AG,Lin L,Malard L,Romano-Silva MA,Ashrafi K

更新日期：2014-06-12 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutation...

journal_title：PLoS genetics

authors： Fernández-Murray JP,Prykhozhij SV,Dufay JN,Steele SL,Gaston D,Nasrallah GK,Coombs AJ,Liwski RS,Fernandez CV,Berman JN,McMaster CR

更新日期：2016-01-28 00:00:00

abstract：:Patients with neonatal severe hyperparathyroidism (NSHPT) are homozygous for the calcium-sensing receptor (CaR) mutation and have very high circulating PTH, abundant parathyroid hyperplasia, and severe life-threatening hypercalcemia. Mice with homozygous deletion of CaR mimic the syndrome of NSHPT. To determine effect...

journal_title：PLoS genetics

authors： Liu J,Lv F,Sun W,Tao C,Ding G,Karaplis A,Brown E,Goltzman D,Miao D

更新日期：2011-09-01 00:00:00

abstract：:Akt represents a nodal point between the Insulin receptor and TOR signaling, and its activation by phosphorylation controls cell proliferation, cell size, and metabolism. The activity of Akt must be carefully balanced, as increased Akt signaling is frequently associated with cancer and as insufficient Akt signaling is...

journal_title：PLoS genetics

authors： Kockel L,Kerr KS,Melnick M,Brückner K,Hebrok M,Perrimon N

更新日期：2010-06-17 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：:Kidney function depends on the nephron, which comprises a blood filter, a tubule that is subdivided into functionally distinct segments, and a collecting duct. How these regions arise during development is poorly understood. The zebrafish pronephros consists of two linear nephrons that develop from the intermediate me...

journal_title：PLoS genetics

authors： Wingert RA,Selleck R,Yu J,Song HD,Chen Z,Song A,Zhou Y,Thisse B,Thisse C,McMahon AP,Davidson AJ

更新日期：2007-10-01 00:00:00

abstract：:Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful. Here, we posit using multiple lines of evidence, including pathogenicity m...

journal_title：PLoS genetics

authors： Jensen M,Girirajan S

更新日期：2019-01-17 00:00:00

abstract：:Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the class 1 RF family: RF1Lmt/mtRF1a, RF1mt, C12orf65 and ICT1. The homolog of the essential ICT1 factor is widely distributed in bacteria and organelles and has the peculiar feature in human mi...

journal_title：PLoS genetics

authors： Akabane S,Ueda T,Nierhaus KH,Takeuchi N

更新日期：2014-09-18 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 00:00:00

abstract：:Agrobacterium tumefaciens mediated T-DNA integration is a common tool for plant genome manipulation. However, there is controversy regarding whether T-DNA integration is biased towards genes or randomly distributed throughout the genome. In order to address this question, we performed high-throughput mapping of T-DNA-...

journal_title：PLoS genetics

authors： Shilo S,Tripathi P,Melamed-Bessudo C,Tzfadia O,Muth TR,Levy AA

更新日期：2017-07-24 00:00:00

abstract：:Skin pigment patterns of vertebrates are a classic system for understanding fundamental mechanisms of morphogenesis, differentiation, and pattern formation, and recent studies of zebrafish have started to elucidate the cellular interactions and molecular mechanisms underlying these processes. In this species, horizont...

journal_title：PLoS genetics

authors： Patterson LB,Parichy DM

更新日期：2013-05-01 00:00:00

abstract：:We recently discovered a secreted and diffusible midline cue called MADD-4 (an ADAMTSL) that guides migrations along the dorsoventral axis of the nematode Caenorhabditis elegans. We showed that the transmembrane receptor, UNC-40 (DCC), whose canonical ligand is the UNC-6 (netrin) guidance cue, is required for extensio...

journal_title：PLoS genetics

authors： Chan KK,Seetharaman A,Bagg R,Selman G,Zhang Y,Kim J,Roy PJ

更新日期：2014-08-14 00:00:00

abstract：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 00:00:00

abstract：:Cell-to-cell gene expression noise is thought to be an important mechanism for generating phenotypic diversity. Furthermore, telomeric regions are major sites for gene amplification, which is thought to drive genetic diversity. Here we found that individual subtelomeric TLO genes exhibit increased variation in transcr...

journal_title：PLoS genetics

authors： Anderson MZ,Gerstein AC,Wigen L,Baller JA,Berman J

更新日期：2014-07-24 00:00:00

abstract：:New systems genetics approaches are needed to rapidly identify host genes and genetic networks that regulate complex disease outcomes. Using genetically diverse animals from incipient lines of the Collaborative Cross mouse panel, we demonstrate a greatly expanded range of phenotypes relative to classical mouse models ...

journal_title：PLoS genetics

authors： Gralinski LE,Ferris MT,Aylor DL,Whitmore AC,Green R,Frieman MB,Deming D,Menachery VD,Miller DR,Buus RJ,Bell TA,Churchill GA,Threadgill DW,Katze MG,McMillan L,Valdar W,Heise MT,Pardo-Manuel de Villena F,Baric RS

更新日期：2015-10-09 00:00:00

abstract：:Studies in model organisms suggest that epistasis may play an important role in the etiology of complex diseases and traits in humans. With the era of large-scale genome-wide association studies fast approaching, it is important to quantify whether it will be possible to detect interacting loci using realistic sample ...

journal_title：PLoS genetics

authors： Evans DM,Marchini J,Morris AP,Cardon LR

更新日期：2006-09-22 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:Hypercholesterolemia is a causal and modifiable risk factor for atherosclerotic cardiovascular disease. A critical pathway regulating cholesterol homeostasis involves the receptor-mediated endocytosis of low-density lipoproteins into hepatocytes, mediated by the LDL receptor. We applied genome-scale CRISPR screening t...

journal_title：PLoS genetics

authors： Emmer BT,Sherman EJ,Lascuna PJ,Graham SE,Willer CJ,Ginsburg D

更新日期：2021-01-29 00:00:00

abstract：:The metabolic capabilities and regulatory networks of bacteria have been optimized by evolution in response to selective pressures present in each species' native ecological niche. In a new environment, however, the same bacteria may grow poorly due to regulatory constraints or biochemical deficiencies. Adaptation to ...

journal_title：PLoS genetics

authors： Hottes AK,Freddolino PL,Khare A,Donnell ZN,Liu JC,Tavazoie S

更新日期：2013-01-01 00:00:00

abstract：:Regulated nuclear entry of clock proteins is a conserved feature of eukaryotic circadian clocks and serves to separate the phase of mRNA activation from mRNA repression in the molecular feedback loop. In Drosophila, nuclear entry of the clock proteins, PERIOD (PER) and TIMELESS (TIM), is tightly controlled, and impair...

journal_title：PLoS genetics

authors： Jang AR,Moravcevic K,Saez L,Young MW,Sehgal A

更新日期：2015-02-12 00:00:00

abstract：:Most of the genetic architecture of schizophrenia (SCZ) has not yet been identified. Here, we apply a novel statistical algorithm called Covariate-Modulated Mixture Modeling (CM3), which incorporates auxiliary information (heterozygosity, total linkage disequilibrium, genomic annotations, pleiotropy) for each single n...

journal_title：PLoS genetics

authors： Wang Y,Thompson WK,Schork AJ,Holland D,Chen CH,Bettella F,Desikan RS,Li W,Witoelar A,Zuber V,Devor A,Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Enhancing Neuro Imaging Genetics throug

更新日期：2016-01-25 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：: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：: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：: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：:In response to stress and injury a coordinated activation of conserved signalling modules, such as JNK and JAK/STAT, is critical to trigger regenerative tissue restoration. While these pathways rebuild homeostasis and promote faithful organ recovery, it is intriguing that they also become activated in various tumour c...

journal_title：PLoS genetics

authors： Beira JV,Torres J,Paro R

更新日期：2018-01-22 00:00:00

abstract：:Insulator or enhancer-blocking elements are proposed to play an important role in the regulation of transcription by preventing inappropriate enhancer/promoter interaction. The zinc-finger protein CTCF is well studied in vertebrates as an enhancer blocking factor, but Drosophila CTCF has only been characterised recent...

journal_title：PLoS genetics

authors： Holohan EE,Kwong C,Adryan B,Bartkuhn M,Herold M,Renkawitz R,Russell S,White R

更新日期：2007-07-01 00:00:00