A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.

Abstract:

:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle.

journal_name

PLoS Genet

journal_title

PLoS genetics

authors

Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier C

doi

10.1371/journal.pgen.1002581

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

e1002581

issue

3

eissn

1553-7390

issn

1553-7404

pii

PGENETICS-D-11-02804

journal_volume

8

pub_type

杂志文章
  • An integrative multi-scale analysis of the dynamic DNA methylation landscape in aging.

    abstract::Recent studies have demonstrated that the DNA methylome changes with age. This epigenetic drift may have deep implications for cellular differentiation and disease development. However, it remains unclear how much of this drift is functional or caused by underlying changes in cell subtype composition. Moreover, no stu...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004996

    authors: Yuan T,Jiao Y,de Jong S,Ophoff RA,Beck S,Teschendorff AE

    更新日期:2015-02-18 00:00:00

  • Anatomic demarcation by positional variation in fibroblast gene expression programs.

    abstract::Fibroblasts are ubiquitous mesenchymal cells with many vital functions during development, tissue repair, and disease. Fibroblasts from different anatomic sites have distinct and characteristic gene expression patterns, but the principles that govern their molecular specialization are poorly understood. Spatial organi...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.0020119

    authors: Rinn JL,Bondre C,Gladstone HB,Brown PO,Chang HY

    更新日期:2006-07-01 00:00:00

  • Genetic basis of metabolome variation in yeast.

    abstract::Metabolism, the conversion of nutrients into usable energy and biochemical building blocks, is an essential feature of all cells. The genetic factors responsible for inter-individual metabolic variability remain poorly understood. To investigate genetic causes of metabolome variation, we measured the concentrations of...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004142

    authors: Breunig JS,Hackett SR,Rabinowitz JD,Kruglyak L

    更新日期:2014-03-06 00:00:00

  • Fuzzy tandem repeats containing p53 response elements may define species-specific p53 target genes.

    abstract::Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (R...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1002731

    authors: Simeonova I,Lejour V,Bardot B,Bouarich-Bourimi R,Morin A,Fang M,Charbonnier L,Toledo F

    更新日期:2012-06-01 00:00:00

  • Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data.

    abstract::The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006549

    authors: Seoighe C,Scally A

    更新日期:2017-01-17 00:00:00

  • Loss of the Caenorhabditis elegans pocket protein LIN-35 reveals MuvB's innate function as the repressor of DREAM target genes.

    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

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1007088

    authors: Goetsch PD,Garrigues JM,Strome S

    更新日期:2017-11-01 00:00:00

  • Molecular basis of hemoglobin adaptation in the high-flying bar-headed goose.

    abstract::During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1007331

    authors: Natarajan C,Jendroszek A,Kumar A,Weber RE,Tame JRH,Fago A,Storz JF

    更新日期:2018-04-02 00:00:00

  • miR-1/133a clusters cooperatively specify the cardiomyogenic lineage by adjustment of myocardin levels during embryonic heart development.

    abstract::miRNAs are small RNAs directing many developmental processes by posttranscriptional regulation of protein-coding genes. We uncovered a new role for miR-1-1/133a-2 and miR-1-2/133a-1 clusters in the specification of embryonic cardiomyocytes allowing transition from an immature state characterized by expression of smoot...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003793

    authors: Wystub K,Besser J,Bachmann A,Boettger T,Braun T

    更新日期:2013-01-01 00:00:00

  • Multiple loci are associated with white blood cell phenotypes.

    abstract::White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from...

    journal_title:PLoS genetics

    pub_type: 杂志文章,meta分析

    doi:10.1371/journal.pgen.1002113

    authors: Nalls MA,Couper DJ,Tanaka T,van Rooij FJ,Chen MH,Smith AV,Toniolo D,Zakai NA,Yang Q,Greinacher A,Wood AR,Garcia M,Gasparini P,Liu Y,Lumley T,Folsom AR,Reiner AP,Gieger C,Lagou V,Felix JF,Völzke H,Gouskova NA,B

    更新日期:2011-06-01 00:00:00

  • Metabolites of lactic acid bacteria present in fermented foods are highly potent agonists of human hydroxycarboxylic acid receptor 3.

    abstract::The interplay of microbiota and the human host is physiologically crucial in health and diseases. The beneficial effects of lactic acid bacteria (LAB), permanently colonizing the human intestine or transiently obtained from food, have been extensively reported. However, the molecular understanding of how LAB modulate ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1008145

    authors: Peters A,Krumbholz P,Jäger E,Heintz-Buschart A,Çakir MV,Rothemund S,Gaudl A,Ceglarek U,Schöneberg T,Stäubert C

    更新日期:2019-05-23 00:00:00

  • Limiting of the innate immune response by SF3A-dependent control of MyD88 alternative mRNA splicing.

    abstract::Controlling infectious disease without inducing unwanted inflammatory disease requires proper regulation of the innate immune response. Thus, innate immunity needs to be activated when needed during an infection, but must be limited to prevent damage. To accomplish this, negative regulators of innate immunity limit th...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003855

    authors: De Arras L,Alper S

    更新日期:2013-10-01 00:00:00

  • Genetic Interactions Implicating Postreplicative Repair in Okazaki Fragment Processing.

    abstract::Ubiquitination of the replication clamp proliferating cell nuclear antigen (PCNA) at the conserved residue lysine (K)164 triggers postreplicative repair (PRR) to fill single-stranded gaps that result from stalled DNA polymerases. However, it has remained elusive as to whether cells engage PRR in response to replicatio...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005659

    authors: Becker JR,Pons C,Nguyen HD,Costanzo M,Boone C,Myers CL,Bielinsky AK

    更新日期:2015-11-06 00:00:00

  • Deep genome-wide measurement of meiotic gene conversion using tetrad analysis in Arabidopsis thaliana.

    abstract::Gene conversion, the non-reciprocal exchange of genetic information, is one of the potential products of meiotic recombination. It can shape genome structure by acting on repetitive DNA elements, influence allele frequencies at the population level, and is known to be implicated in human disease. But gene conversion i...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1002968

    authors: Sun Y,Ambrose JH,Haughey BS,Webster TD,Pierrie SN,Muñoz DF,Wellman EC,Cherian S,Lewis SM,Berchowitz LE,Copenhaver GP

    更新日期:2012-01-01 00:00:00

  • Non-proteolytic activity of 19S proteasome subunit RPT-6 regulates GATA transcription during response to infection.

    abstract::GATA transcription factors play a crucial role in the regulation of immune functions across metazoans. In Caenorhabditis elegans, the GATA transcription factor ELT-2 is involved in the control of not only infections but also recovery after an infection. We identified RPT-6, part of the 19S proteasome subunit, as an EL...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1007693

    authors: Olaitan AO,Aballay A

    更新日期:2018-09-28 00:00:00

  • A phenotypic profile of the Candida albicans regulatory network.

    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

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1000783

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

    更新日期:2009-12-01 00:00:00

  • KdmB, a Jumonji Histone H3 Demethylase, Regulates Genome-Wide H3K4 Trimethylation and Is Required for Normal Induction of Secondary Metabolism in Aspergillus nidulans.

    abstract::Histone posttranslational modifications (HPTMs) are involved in chromatin-based regulation of fungal secondary metabolite biosynthesis (SMB) in which the corresponding genes-usually physically linked in co-regulated clusters-are silenced under optimal physiological conditions (nutrient-rich) but are activated when nut...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006222

    authors: Gacek-Matthews A,Berger H,Sasaki T,Wittstein K,Gruber C,Lewis ZA,Strauss J

    更新日期:2016-08-22 00:00:00

  • Common Cell Shape Evolution of Two Nasopharyngeal Pathogens.

    abstract::Respiratory infectious diseases are the third cause of worldwide death. The nasopharynx is the portal of entry and the ecological niche of many microorganisms, of which some are pathogenic to humans, such as Neisseria meningitidis and Moraxella catarrhalis. These microbes possess several surface structures that intera...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005338

    authors: Veyrier FJ,Biais N,Morales P,Belkacem N,Guilhen C,Ranjeva S,Sismeiro O,Péhau-Arnaudet G,Rocha EP,Werts C,Taha MK,Boneca IG

    更新日期:2015-07-10 00:00:00

  • Suppressor mutations reveal an NtrC-like response regulator, NmpR, for modulation of Type-IV Pili-dependent motility in Myxococcus xanthus.

    abstract::Two-component signaling systems (TCS) regulate bacterial responses to environmental signals through the process of protein phosphorylation. Specifically, sensor histidine kinases (SK) recognize signals and propagate the response via phosphorylation of a cognate response regulator (RR) that functions to initiate transc...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1007714

    authors: Bretl DJ,Ladd KM,Atkinson SN,Müller S,Kirby JR

    更新日期:2018-10-22 00:00:00

  • Being pathogenic, plastic, and sexual while living with a nearly minimal bacterial genome.

    abstract::Mycoplasmas are commonly described as the simplest self-replicating organisms, whose evolution was mainly characterized by genome downsizing with a proposed evolutionary scenario similar to that of obligate intracellular bacteria such as insect endosymbionts. Thus far, analysis of mycoplasma genomes indicates a low le...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.0030075

    authors: Sirand-Pugnet P,Lartigue C,Marenda M,Jacob D,Barré A,Barbe V,Schenowitz C,Mangenot S,Couloux A,Segurens B,de Daruvar A,Blanchard A,Citti C

    更新日期:2007-05-18 00:00:00

  • Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.

    abstract::Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1008376

    authors: Delos Santos K,Kim M,Yergeau C,Jean S,Moon NS

    更新日期:2019-09-05 00:00:00

  • Genetic mechanism of human neutrophil antigen 2 deficiency and expression variations.

    abstract::Human neutrophil antigen 2 (HNA-2) deficiency is a common phenotype as 3-5% humans do not express HNA-2. HNA-2 is coded by CD177 gene that associates with human myeloproliferative disorders. HNA-2 deficient individuals are prone to produce HNA-2 alloantibodies that cause a number of disorders including transfusion-rel...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005255

    authors: Li Y,Mair DC,Schuller RM,Li L,Wu J

    更新日期:2015-05-29 00:00:00

  • Association mapping and the genomic consequences of selection in sunflower.

    abstract::The combination of large-scale population genomic analyses and trait-based mapping approaches has the potential to provide novel insights into the evolutionary history and genome organization of crop plants. Here, we describe the detailed genotypic and phenotypic analysis of a sunflower (Helianthus annuus L.) associat...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003378

    authors: Mandel JR,Nambeesan S,Bowers JE,Marek LF,Ebert D,Rieseberg LH,Knapp SJ,Burke JM

    更新日期:2013-03-01 00:00:00

  • Inferring causal direction between two traits in the presence of horizontal pleiotropy with GWAS summary data.

    abstract::Orienting the causal relationship between pairs of traits is a fundamental task in scientific research with significant implications in practice, such as in prioritizing molecular targets and modifiable risk factors for developing therapeutic and interventional strategies for complex diseases. A recent method, called ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1009105

    authors: Xue H,Pan W

    更新日期:2020-11-02 00:00:00

  • A Genome-wide hybrid incompatibility landscape between Caenorhabditis briggsae and C. nigoni.

    abstract::Systematic characterization of ẖybrid incompatibility (HI) between related species remains the key to understanding speciation. The genetic basis of HI has been intensively studied in Drosophila species, but remains largely unknown in other species, including nematodes, which is mainly due to the lack of a sister spec...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004993

    authors: Bi Y,Ren X,Yan C,Shao J,Xie D,Zhao Z

    更新日期:2015-02-18 00:00:00

  • Kinetochore-independent mechanisms of sister chromosome separation.

    abstract::Although kinetochores normally play a key role in sister chromatid separation and segregation, chromosome fragments lacking kinetochores (acentrics) can in some cases separate and segregate successfully. In Drosophila neuroblasts, acentric chromosomes undergo delayed, but otherwise normal sister separation, revealing ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1009304

    authors: Vicars H,Karg T,Warecki B,Bast I,Sullivan W

    更新日期:2021-01-29 00:00:00

  • PP2A/B55 and Fcp1 regulate Greatwall and Ensa dephosphorylation during mitotic exit.

    abstract::Entry into mitosis is triggered by activation of Cdk1 and inactivation of its counteracting phosphatase PP2A/B55. Greatwall kinase inactivates PP2A/B55 via its substrates Ensa and ARPP19. Both Greatwall and Ensa/ARPP19 are regulated by phosphorylation, but the dynamic regulation of Greatwall activity and the phosphata...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004004

    authors: Hégarat N,Vesely C,Vinod PK,Ocasio C,Peter N,Gannon J,Oliver AW,Novák B,Hochegger H

    更新日期:2014-01-01 00:00:00

  • Correction: Origins of DNA replication.

    abstract::[This corrects the article DOI: 10.1371/journal.pgen.1008320.]. ...

    journal_title:PLoS genetics

    pub_type: 已发布勘误

    doi:10.1371/journal.pgen.1008556

    authors: PLOS Genetics Staff.

    更新日期:2019-12-19 00:00:00

  • CorE from Myxococcus xanthus is a copper-dependent RNA polymerase sigma factor.

    abstract::The dual toxicity/essentiality of copper forces cells to maintain a tightly regulated homeostasis for this metal in all living organisms, from bacteria to humans. Consequently, many genes have previously been reported to participate in copper detoxification in bacteria. Myxococcus xanthus, a prokaryote, encodes many p...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1002106

    authors: Gómez-Santos N,Pérez J,Sánchez-Sutil MC,Moraleda-Muñoz A,Muñoz-Dorado J

    更新日期:2011-06-01 00:00:00

  • Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

    abstract::The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1001183

    authors: Gaudet MM,Kirchhoff T,Green T,Vijai J,Korn JM,Guiducci C,Segrè AV,McGee K,McGuffog L,Kartsonaki C,Morrison J,Healey S,Sinilnikova OM,Stoppa-Lyonnet D,Mazoyer S,Gauthier-Villars M,Sobol H,Longy M,Frenay M,GEMO Study

    更新日期:2010-10-28 00:00:00

  • The transcriptomes of two heritable cell types illuminate the circuit governing their differentiation.

    abstract::The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systemat...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1001070

    authors: Tuch BB,Mitrovich QM,Homann OR,Hernday AD,Monighetti CK,De La Vega FM,Johnson AD

    更新日期:2010-08-19 00:00:00