Altered tumorigenic phenotype in mice with a hypomorphic p53 mutant allele

Mutations in the p53 tumor suppressor gene are found in over 50% of human tumors and in the germline of Li-Fraumeni syndrome families. About 80% of these mutations are missense in nature. In order to study how p53 missense mutations affect tumorigenesis in vivo, we focused on the murine p53 arg-to-his mutation at amino acid 172, which corresponds to the human hot spot mutation at amino acid 175. The double replacement procedure was employed to introduce the p53 R172H mutation into the p53 locus of ES cells and mice were generated. An additional 1bp deletion in the intron 2 splice acceptor site was detected in the same allele in mice. We named this allele p53R172HΔg. This allele makes a small amount of full length p53 mutant protein. ^ Spontaneous tumor formation and survival were studied in these mice. Mice heterozygous for the p53R172HΔg allele showed 50% survival at 17 months of age, similar to the p53+/− mice. Moreover, the p53R172HΔg/+ mice showed a distinct tumor spectrum: 55% sarcomas, including osteosarcoms, fibrosarcomas and angiosarcomas; 27% carcinomas, including lung adenocarcinomas, squamous cell carcinomas, hepatocellular carcinomas and islet cell carcinomas; and 18% lymphomas. Compared to the p53+/− mice, there was a clear increase in the frequency of carcinoma development and a decrease in lymphoma incidence. Among the sarcomas that developed, fibrosarcomas in the skin were also more frequently observed. More importantly, osteosarcomas and carinomas that developed in the p53R172HΔg/+ mice metastasized at very high frequency (64% and 67%, respectively) compared with less than 10% in the p53+/− mice. The metastatic lesions were usually found in lung and liver, and less frequently in other tissues. The altered tumor spectrum in the mice and increased metastatic potential of the tumors suggested that the p53R172H mutation represents a gain-of-function. ^ Mouse embryonic fibroblasts (MEFs) from the mice homozygous and heterozygous for the p53R172HΔg allele were studied for growth characteristics, immortalization potential and genomic instability. All of the p53R172HΔg /+ MEF lines are immortalized under a 3T3 protocol while under the same protocol p53+/− MEFs are not immortalized. Karyotype analysis showed a persistent appearance of chromosome end-to-end fusion in the MEFs both homozygous and heterozygous for the p53R172HΔg allele. These observations suggest that increased genomic instability in the cells may cause the altered tumor phenotypes. ^

Engineering an Ontology for Autonomous Systems - The OASys Ontology

This paper describes the development of an ontology for autonomous systems, as the initial stage of a research programe on autonomous systems’ engineering within a model-based control approach. The ontology aims at providing a unified conceptual framework for the autonomous systems’ stakeholders, from developers to software engineers. The modular ontology contains both generic and domain-specific concepts for autonomous systems description and engineering. The ontology serves as the basis in a methodology to obtain the autonomous system’s conceptual models. The objective is to obtain and to use these models as main input for the autonomous system’s model-based control system.

Essentials in Ontology Engineering: Methodologies, Languages, and Tools

In the beginning of the 90s, ontology development was similar to an art: ontology developers did not have clear guidelines on how to build ontologies but only some design criteria to be followed. Work on principles, methods and methodologies, together with supporting technologies and languages, made ontology development become an engineering discipline, the so-called Ontology Engineering. Ontology Engineering refers to the set of activities that concern the ontology development process and the ontology life cycle, the methods and methodologies for building ontologies, and the tool suites and languages that support them. Thanks to the work done in the Ontology Engineering field, the development of ontologies within and between teams has increased and improved, as well as the possibility of reusing ontologies in other developments and in final applications. Currently, ontologies are widely used in (a) Knowledge Engineering, Artificial Intelligence and Computer Science, (b) applications related to knowledge management, natural language processing, e-commerce, intelligent information integration, information retrieval, database design and integration, bio-informatics, education, and (c) the Semantic Web, the Semantic Grid, and the Linked Data initiative. In this paper, we provide an overview of Ontology Engineering, mentioning the most outstanding and used methodologies, languages, and tools for building ontologies. In addition, we include some words on how all these elements can be used in the Linked Data initiative.

Mapping of the Music Ontology to the Media Value Chain Ontology and the PROV Ontology

Mapping of the Music Ontology to the Media Value Chain Ontology and the PROV Ontology

The Landscape of Ontology Reuse in Linked Data

Abstract. The uptake of Linked Data (LD) has promoted the proliferation of datasets and their associated ontologies for describing different domains. Ac-cording to LD principles, developers should reuse as many available terms as possible to describe their data. Importing ontologies or referring to their terms’ URIs are the two main ways to reuse knowledge from available ontologies. In this paper, we have analyzed 18589 terms appearing within 196 ontologies in-cluded in the Linked Open Vocabularies (LOV) registry with the aim of under-standing the current state of ontology reuse in the LD context. In order to char-acterize the landscape of ontology reuse in this context, we have extracted sta-tistics about currently reused elements, calculated ratios for reuse, and drawn graphs about imports and references between ontologies. Keywords: ontology, vocabulary, reuse, linked data, ontology import

Cross-lingual ontology matching as a challenge for the Multilingual Semantic Web

Recently, the Semantic Web has experienced significant advancements in standards and techniques, as well as in the amount of semantic information available online. Nevertheless, mechanisms are still needed to automatically reconcile information when it is expressed in different natural languages on the Web of Data, in order to improve the access to semantic information across language barriers. In this context several challenges arise [1], such as: (i) ontology translation/localization, (ii) cross-lingual ontology mappings, (iii) representation of multilingual lexical information, and (iv) cross-lingual access and querying of linked data. In the following we will focus on the second challenge, which is the necessity of establishing, representing and storing cross-lingual links among semantic information on the Web. In fact, in a “truly” multilingual Semantic Web, semantic data with lexical representations in one natural language would be mapped to equivalent or related information in other languages, thus making navigation across multilingual information possible for software agents.

Using Cross-Lingual Explicit Semantic Analysis for Improving Ontology Translation

Semantic Web aims to allow machines to make inferences using the explicit conceptualisations contained in ontologies. By pointing to ontologies, Semantic Web-based applications are able to inter-operate and share common information easily. Nevertheless, multilingual semantic applications are still rare, owing to the fact that most online ontologies are monolingual in English. In order to solve this issue, techniques for ontology localisation and translation are needed. However, traditional machine translation is difficult to apply to ontologies, owing to the fact that ontology labels tend to be quite short in length and linguistically different from the free text paradigm. In this paper, we propose an approach to enhance machine translation of ontologies based on exploiting the well-structured concept descriptions contained in the ontology. In particular, our approach leverages the semantics contained in the ontology by using Cross Lingual Explicit Semantic Analysis (CLESA) for context-based disambiguation in phrase-based Statistical Machine Translation (SMT). The presented work is novel in the sense that application of CLESA in SMT has not been performed earlier to the best of our knowledge.

Did you validate your ontology? OOPS!

The application of methodologies for building ontologies can im-prove ontology quality. However, such quality is not guaranteed because of the difficulties involved in ontology modelling. These difficulties are related to the inclusion of anomalies or bad practices within the ontology development. Sev-eral authors have provided lists of typical anomalies detected in ontologies dur-ing the last decade. In this context, our aim in this paper is to describe OOPS! (OntOlogy Pitfall Scanner!), a tool for detecting pitfalls in ontologies.

MultiFarm: A benchmark for multilingual ontology matching

In this paper we present the MultiFarm dataset, which has been designed as a benchmark for multilingual ontology matching. The MultiFarm dataset is composed of a set of ontologies translated in different languages and the corresponding alignments between these ontologies. It is based on the OntoFarm dataset, which has been used successfully for several years in the Ontology Alignment Evaluation Initiative (OAEI). By translating the ontologies of the OntoFarm dataset into eight different languages – Chinese, Czech, Dutch, French, German, Portuguese, Russian, and Spanish – we created a comprehensive set of realistic test cases. Based on these test cases, it is possible to evaluate and compare the performance of matching approaches with a special focus on multilingualism.

OPPL-Galaxy, a Galaxy tool for enhancing ontology exploitation as part of bioinformatics workflows

Biomedical ontologies are key elements for building up the Life Sciences Semantic Web. Reusing and building biomedical ontologies requires flexible and versatile tools to manipulate them efficiently, in particular for enriching their axiomatic content. The Ontology Pre Processor Language (OPPL) is an OWL-based language for automating the changes to be performed in an ontology. OPPL augments the ontologists’ toolbox by providing a more efficient, and less error-prone, mechanism for enriching a biomedical ontology than that obtained by a manual treatment. Results We present OPPL-Galaxy, a wrapper for using OPPL within Galaxy. The functionality delivered by OPPL (i.e. automated ontology manipulation) can be combined with the tools and workflows devised within the Galaxy framework, resulting in an enhancement of OPPL. Use cases are provided in order to demonstrate OPPL-Galaxy’s capability for enriching, modifying and querying biomedical ontologies. Conclusions Coupling OPPL-Galaxy with other bioinformatics tools of the Galaxy framework results in a system that is more than the sum of its parts. OPPL-Galaxy opens a new dimension of analyses and exploitation of biomedical ontologies, including automated reasoning, paving the way towards advanced biological data analyses.

Ontology-based access to sensor data streams

Sensor networks are increasingly becoming one of the main sources of Big Data on the Web. However, the observations that they produce are made available with heterogeneous schemas, vocabularies and data formats, making it difficult to share and reuse these data for other purposes than those for which they were originally set up. In this thesis we address these challenges, considering how we can transform streaming raw data to rich ontology-based information that is accessible through continuous queries for streaming data. Our main contribution is an ontology-based approach for providing data access and query capabilities to streaming data sources, allowing users to express their needs at a conceptual level, independent of implementation and language-specific details. We introduce novel query rewriting and data translation techniques that rely on mapping definitions relating streaming data models to ontological concepts. Specific contributions include: • The syntax and semantics of the SPARQLStream query language for ontologybased data access, and a query rewriting approach for transforming SPARQLStream queries into streaming algebra expressions. • The design of an ontology-based streaming data access engine that can internally reuse an existing data stream engine, complex event processor or sensor middleware, using R2RML mappings for defining relationships between streaming data models and ontology concepts. Concerning the sensor metadata of such streaming data sources, we have investigated how we can use raw measurements to characterize streaming data, producing enriched data descriptions in terms of ontological models. Our specific contributions are: • A representation of sensor data time series that captures gradient information that is useful to characterize types of sensor data. • A method for classifying sensor data time series and determining the type of data, using data mining techniques, and a method for extracting semantic sensor metadata features from the time series.

The SSN ontology of the W3C semantic sensor network incubator group

The W3C Semantic Sensor Network Incubator group (the SSN-XG) produced an OWL 2 ontology to describe sensors and observations ? the SSN ontology, available at http://purl.oclc.org/NET/ssnx/ssn. The SSN ontology can describe sensors in terms of capabilities, measurement processes, observations and deployments. This article describes the SSN ontology. It further gives an example and describes the use of the ontology in recent research projects.

A novel context ontology to facilitate interoperation of semantic services in environments with wearable devices

The LifeWear-Mobilized Lifestyle with Wearables (Lifewear) project attempts to create Ambient Intelligence (AmI) ecosystems by composing personalized services based on the user information, environmental conditions and reasoning outputs. Two of the most important benefits over traditional environments are 1) take advantage of wearable devices to get user information in a nonintrusive way and 2) integrate this information with other intelligent services and environmental sensors. This paper proposes a new ontology composed by the integration of users and services information, for semantically representing this information. Using an Enterprise Service Bus, this ontology is integrated in a semantic middleware to provide context-aware personalized and semantically annotated services, with discovery, composition and orchestration tasks. We show how these services support a real scenario proposed in the Lifewear project.