CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

abstract：:Identifying the ancestry of chromosomal segments of distinct ancestry has a wide range of applications from disease mapping to learning about history. Most methods require the use of unlinked markers; but, using all markers from genome-wide scanning arrays, it should in principle be possible to infer the ancestry of e...

journal_title：PLoS genetics

authors： Price AL,Tandon A,Patterson N,Barnes KC,Rafaels N,Ruczinski I,Beaty TH,Mathias R,Reich D,Myers S

更新日期：2009-06-01 00:00:00

abstract：:The DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 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 human pathogens N. gonorrhoeae and N. meningitidis display robust intra- and interstrain glycan diversity associated with their O-linked protein glycosylation (pgl) systems. In an effort to better understand the evolution and function of protein glycosylation operating there, we aimed to determine if other human-r...

journal_title：PLoS genetics

authors： Hadjineophytou C,Anonsen JH,Wang N,Ma KC,Viburiene R,Vik Å,Harrison OB,Maiden MCJ,Grad YH,Koomey M

更新日期：2019-12-23 00:00:00

abstract：:Elongator complex is required for formation of the side chains at position 5 of modified nucleosides 5-carbamoylmethyluridine (ncm⁵U₃₄), 5-methoxycarbonylmethyluridine (mcm⁵U₃₄), and 5-methoxycarbonylmethyl-2-thiouridine (mcm⁵s²U₃₄) at wobble position in tRNA. These modified nucleosides are important for efficient dec...

journal_title：PLoS genetics

authors： Chen C,Huang B,Eliasson M,Rydén P,Byström AS

更新日期：2011-09-01 00:00:00

abstract：:Epigenetic reprogramming is a critical event in the generation of induced pluripotent stem cells (iPSCs). Here, we determined the DNA methylation profiles of 22 human iPSC lines derived from five different cell types (human endometrium, placental artery endothelium, amnion, fetal lung fibroblast, and menstrual blood c...

journal_title：PLoS genetics

authors： Nishino K,Toyoda M,Yamazaki-Inoue M,Fukawatase Y,Chikazawa E,Sakaguchi H,Akutsu H,Umezawa A

更新日期：2011-05-01 00:00:00

abstract：:Abeta peptide accumulation is thought to be the primary event in the pathogenesis of Alzheimer's disease (AD), with downstream neurotoxic effects including the hyperphosphorylation of tau protein. Glycogen synthase kinase-3 (GSK-3) is increasingly implicated as playing a pivotal role in this amyloid cascade. We have d...

journal_title：PLoS genetics

authors： Sofola O,Kerr F,Rogers I,Killick R,Augustin H,Gandy C,Allen MJ,Hardy J,Lovestone S,Partridge L

更新日期：2010-09-02 00:00:00

abstract：:During development of the cerebral cortex, neural stem cells (NSCs) divide symmetrically to proliferate and asymmetrically to generate neurons. Although faithful segregation of mitotic chromosomes is critical for NSC divisions, its fundamental mechanism remains unclear. A class of evolutionarily conserved protein comp...

journal_title：PLoS genetics

authors： Nishide K,Hirano T

更新日期：2014-12-04 00:00:00

abstract：:The Cleavage Factor 1A (CF1A) complex, which is required for the termination of transcription in budding yeast, occupies the 3' end of transcriptionally active genes. We recently demonstrated that CF1A subunits also crosslink to the 5' end of genes during transcription. The presence of CF1A complex at the promoter sug...

journal_title：PLoS genetics

authors： Al Husini N,Kudla P,Ansari A

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：:Ribosome assembly cofactors are widely conserved across all domains of life. One such group, the ribosome-associated GTPases (RA-GTPase), act as molecular switches to coordinate ribosome assembly. We previously identified the Staphylococcus aureus RA-GTPase Era as a target for the stringent response alarmone (p)ppGpp,...

journal_title：PLoS genetics

authors： Wood A,Irving SE,Bennison DJ,Corrigan RM

更新日期：2019-08-29 00:00:00

abstract：:Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic...

journal_title：PLoS genetics

authors： Day F,Karaderi T,Jones MR,Meun C,He C,Drong A,Kraft P,Lin N,Huang H,Broer L,Magi R,Saxena R,Laisk T,Urbanek M,Hayes MG,Thorleifsson G,Fernandez-Tajes J,Mahajan A,Mullin BH,Stuckey BGA,Spector TD,Wilson SG,Good

更新日期：2018-12-19 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00

abstract：:Polycomb proteins are epigenetic regulators that localize to developmental loci in the early embryo where they mediate lineage-specific gene repression. In Drosophila, these repressors are recruited to sequence elements by DNA binding proteins associated with Polycomb repressive complex 2 (PRC2). However, the sequence...

journal_title：PLoS genetics

authors： Mendenhall EM,Koche RP,Truong T,Zhou VW,Issac B,Chi AS,Ku M,Bernstein BE

更新日期：2010-12-09 00:00:00

abstract：:Thousands of loci in the human and mouse genomes give rise to circular RNA transcripts; at many of these loci, the predominant RNA isoform is a circle. Using an improved computational approach for circular RNA identification, we found widespread circular RNA expression in Drosophila melanogaster and estimate that in h...

journal_title：PLoS genetics

authors： Salzman J,Chen RE,Olsen MN,Wang PL,Brown PO

更新日期：2013-01-01 00:00:00

abstract：:In understanding the etiology of breast cancer, the contributions of both genetic and environmental risk factors are further complicated by the impact of breast developmental stage. Specifically, the time period ranging from childhood to young adulthood represents a critical developmental window in a woman's life when...

journal_title：PLoS genetics

authors： Henning AN,Haag JD,Smits BM,Gould MN

更新日期：2016-08-18 00:00:00

abstract：:Human chromosome 15q25 is involved in several disease-associated structural rearrangements, including microdeletions and chromosomal markers with inverted duplications. Using comparative fluorescence in situ hybridization, strand-sequencing, single-molecule, real-time sequencing and Bionano optical mapping analyses, w...

journal_title：PLoS genetics

authors： Maggiolini FAM,Cantsilieris S,D'Addabbo P,Manganelli M,Coe BP,Dumont BL,Sanders AD,Pang AWC,Vollger MR,Palumbo O,Palumbo P,Accadia M,Carella M,Eichler EE,Antonacci F

更新日期：2019-03-27 00:00:00

abstract：:Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma membrane leading to excessive muscle degeneration. Two genetic modifiers of Duchenne Muscular Dystrophy implicate the transforming growth factor β (TGFβ) pathway, osteopontin encoded by the SPP1 gene and l...

journal_title：PLoS genetics

authors： Quattrocelli M,Capote J,Ohiri JC,Warner JL,Vo AH,Earley JU,Hadhazy M,Demonbreun AR,Spencer MJ,McNally EM

更新日期：2017-10-24 00:00:00

abstract：:Pregnancy-induced noncoding RNA (PINC) and retinoblastoma-associated protein 46 (RbAp46) are upregulated in alveolar cells of the mammary gland during pregnancy and persist in alveolar cells that remain in the regressed lobules following involution. The cells that survive involution are thought to function as alveolar...

journal_title：PLoS genetics

authors： Shore AN,Kabotyanski EB,Roarty K,Smith MA,Zhang Y,Creighton CJ,Dinger ME,Rosen JM

更新日期：2012-01-01 00:00:00

abstract：:Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation. In the mouse, the existence of an intragenomic conflict between X- and Y-linked mult...

journal_title：PLoS genetics

authors： Cocquet J,Ellis PJ,Mahadevaiah SK,Affara NA,Vaiman D,Burgoyne PS

更新日期：2012-09-01 00:00:00

abstract：:Although multiple environmental cues regulate the transition to flowering in Arabidopsis thaliana, previous studies have suggested that wild A. thaliana accessions fall primarily into two classes, distinguished by their requirement for vernalization (extended winter-like temperatures), which enables rapid flowering un...

journal_title：PLoS genetics

authors： Lempe J,Balasubramanian S,Sureshkumar S,Singh A,Schmid M,Weigel D

更新日期：2005-07-01 00:00:00

abstract：:DNA methylation is an ancient molecular modification found in most eukaryotes. In plants, DNA methylation is not only critical for transcriptionally silencing transposons, but can also affect phenotype by altering expression of protein coding genes. The extent of its contribution to phenotypic diversity over evolution...

journal_title：PLoS genetics

authors： Seymour DK,Koenig D,Hagmann J,Becker C,Weigel D

更新日期：2014-11-13 00:00:00

abstract：:Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L (WBSCR16), a putative GDP/GTP exchange factor, has recently been described to in...

journal_title：PLoS genetics

authors： Reyes A,Favia P,Vidoni S,Petruzzella V,Zeviani M

更新日期：2020-07-31 00:00:00

abstract：:Seam cells in Caenorhabditis elegans provide a paradigm for the stem cell mode of division, with the ability to both self-renew and produce daughters that differentiate. The transcription factor RNT-1 and its DNA binding partner BRO-1 (homologues of the mammalian cancer-associated stem cell regulators RUNX and CBFβ, r...

journal_title：PLoS genetics

authors： Brabin C,Appleford PJ,Woollard A

更新日期：2011-08-01 00:00:00

abstract：:L1 retrotransposons have a prominent role in reshaping mammalian genomes. To replicate, the L1 ribonucleoprotein particle (RNP) first uses its endonuclease (EN) to nick the genomic DNA. The newly generated DNA end is subsequently used as a primer to initiate reverse transcription within the L1 RNA poly(A) tail, a proc...

journal_title：PLoS genetics

authors： Monot C,Kuciak M,Viollet S,Mir AA,Gabus C,Darlix JL,Cristofari G

更新日期：2013-05-01 00:00:00

abstract：:Differences in transcriptional regulatory networks underlie much of the phenotypic variation observed across organisms. Changes to cis-regulatory elements are widely believed to be the predominant means by which regulatory networks evolve, yet examples of regulatory network divergence due to transcription factor (TF) ...

journal_title：PLoS genetics

authors： Nadimpalli S,Persikov AV,Singh M

更新日期：2015-03-06 00:00:00

abstract：:Although endocrine changes are known to modulate the timing of major developmental transitions, the genetic mechanisms underlying these changes remain poorly understood. In insects, two developmental hormones, juvenile hormone (JH) and ecdysteroids, are coordinated with each other to induce developmental changes assoc...

journal_title：PLoS genetics

authors： Cheng C,Ko A,Chaieb L,Koyama T,Sarwar P,Mirth CK,Smith WA,Suzuki Y

更新日期：2014-06-19 00:00:00

abstract：:Alternative splicing generates protein diversity and allows for post-transcriptional gene regulation. Estimates suggest that 10% of the genes in Caenorhabditis elegans undergo alternative splicing. We constructed a splicing-sensitive microarray to detect alternative splicing for 352 cassette exons and tested for chang...

journal_title：PLoS genetics

authors： Barberan-Soler S,Zahler AM

更新日期：2008-02-29 00:00:00

abstract：:Conjugation is one mechanism for intra- and inter-species horizontal gene transfer among bacteria. Conjugative elements have been instrumental in many bacterial species to face the threat of antibiotics, by allowing them to evolve and adapt to these hostile conditions. Conjugative plasmids are transferred to plasmidle...

journal_title：PLoS genetics

authors： Baharoglu Z,Bikard D,Mazel D

更新日期：2010-10-21 00:00:00

abstract：:The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and has been postulated to be governed by symmetric versus asymmetric ...

journal_title：PLoS genetics

authors： Sakai D,Dixon J,Dixon MJ,Trainor PA

更新日期：2012-01-01 00:00:00