期刊论文详细信息
Journal of Biomedical Semantics
Nose to tail, roots to shoots: spatial descriptors for phenotypic diversity in the Biological Spatial Ontology
Melissa A Haendel4  Ramona L Walls2  David Osumi-Sutherland3  Christopher J Mungall1  Paula M Mabee6  Hong Cui5  Wasila M Dahdul7 
[1] Lawrence Berkeley National Laboratory, Berkeley, CA, USA;The iPlant Collaborative, Bio5 Institute, University of Arizona, Tucson, AZ, USA;Department of Genetics, University of Cambridge, Cambridge, UK;Library and Department of Medical Informatics & Epidemiology, Oregon Health & Science University, Portland, OR, USA;School of Information Resource and Library Science, University of Arizona, Tucson, AZ, USA;Department of Biology, University of South Dakota, Vermillion, SD, USA;National Evolutionary Synthesis Center, Durham, NC, USA
关键词: Phenotype;    Ontology;    BSPO;    Reasoning;    Axes;    Position;    Spatial relationships;    Anatomy;   
Others  :  1135829
DOI  :  10.1186/2041-1480-5-34
 received in 2013-07-02, accepted in 2014-06-16,  发布年份 2014
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【 摘 要 】

Background

Spatial terminology is used in anatomy to indicate precise, relative positions of structures in an organism. While these terms are often standardized within specific fields of biology, they can differ dramatically across taxa. Such differences in usage can impair our ability to unambiguously refer to anatomical position when comparing anatomy or phenotypes across species. We developed the Biological Spatial Ontology (BSPO) to standardize the description of spatial and topological relationships across taxa to enable the discovery of comparable phenotypes.

Results

BSPO currently contains 146 classes and 58 relations representing anatomical axes, gradients, regions, planes, sides, and surfaces. These concepts can be used at multiple biological scales and in a diversity of taxa, including plants, animals and fungi. The BSPO is used to provide a source of anatomical location descriptors for logically defining anatomical entity classes in anatomy ontologies. Spatial reasoning is further enhanced in anatomy ontologies by integrating spatial relations such as dorsal_to into class descriptions (e.g., ‘dorsolateral placode’ dorsal_to some ‘epibranchial placode’).

Conclusions

The BSPO is currently used by projects that require standardized anatomical descriptors for phenotype annotation and ontology integration across a diversity of taxa. Anatomical location classes are also useful for describing phenotypic differences, such as morphological variation in position of structures resulting from evolution within and across species.

【 授权许可】

   
2014 Dahdul et al.; licensee BioMed Central Ltd.

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【 参考文献 】
  • [1]McGinnis W, Krumlauf R: Homeobox genes and axial patterning. Cell 1992, 68:283-302.
  • [2]Petersen CP, Reddien PW: Wnt signaling and the polarity of the primary body axis. Cell 2009, 139:1056-1068.
  • [3]Holstein TW, Watanabe H, Ozbek S: Signaling pathways and axis formation in the lower metazoa. Curr Top Dev Biol 2011, 97:137-177.
  • [4]Grande C, Patel NH: Nodal signalling is involved in left-right asymmetry in snails. Nature 2009, 457:1007-1011.
  • [5]Hake S, Smith HMS, Holtan H, Magnani E, Mele G, Ramirez J: The role of KNOX genes in plant development. Annu Rev Cell Dev Biol 2004, 20:125-151.
  • [6]Irvine KD, Rauskolb C: Boundaries in development: formation and function. Annu Rev Cell Dev Biol 2001, 17:189-214.
  • [7]Haendel MA, Neuhaus F, Osumi-Sutherland D, Mabee PM, Mejino JLV, Mungall CJ, Smith B: CARO – The Common Anatomy Reference Ontology. In Anatomy Ontologies for Bioinformatics: Principles and Practice. Edited by Burger A, Davidson D, Baldock R. London: Springer; 2008:327-349.
  • [8]Cohen SM: Imaginal disc development. In The development of Drosophila melanogaster, Vol II. Edited by Bate M, Martinez Arias A. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1993:747-841.
  • [9]Leys SP, Ereskovsky AV: Embryogenesis and larval differentiation in sponges. Canandian J Zool 2006, 84:262-287.
  • [10]Finnerty JR, Pang K, Burton P, Paulson D, Martindale MQ: Origins of bilateral symmetry: Hox and dpp expression in a sea anemone. Science 2004, 304:1335-1337.
  • [11]Sinigaglia C, Busengdal H, Leclère L, Technau U, Rentzsch F: The bilaterian head patterning gene six3/6 controls aboral domain development in a cnidarian. PLoS Biol 2013, 11:e1001488.
  • [12]Erwin DH, Davidson EH: The last common bilaterian ancestor. Development 2002, 129:3021-3032.
  • [13]Pechenik JA: Biology of the Invertebrates. 6th edition. McGraw-Hill Publishing Company; 2009.
  • [14]Boyle MJ, Seaver EC: Expression of FoxA and GATA transcription factors correlates with regionalized gut development in two lophotrochozoan marine worms: Chaetopterus (Annelida) and Themiste lageniformis (Sipuncula). EvoDevo 2010, 1:2.
  • [15]Minelli A: Forms of Becoming: The Evolutionary Biology of Development. Princeton, New Jersey: Princeton University Press; 2009.
  • [16]Cohen BL, Holmer LE, Lüter C: The brachiopod fold: a neglected body plan hypothesis. Palaeontology 2003, 46:59-65.
  • [17]Teske P, Beheregaray L: Evolution of seahorses’ upright position was linked to Oligocene expansion of seagrass habitats. Biol Lett 2009, 5:521-523.
  • [18]De Robertis EM: Evo-Devo: variations on ancestral themes. Cell 2008, 132:185-195.
  • [19]Panganiban G, Rubenstein J: Developmental functions of the Distal-less/Dlx homeobox genes. Development 2002, 129:4371-4386.
  • [20]Steeves TA, Sussex IM: Patterns in Plant Development. Cambridge, UK: Cambridge University Press; 1989.
  • [21]Harfe BD: Keeping up with the zone of polarizing activity: New roles for an old signaling center. Dev Dyn 2011, 240:915-919.
  • [22]Kumar TKA, Crow JA, Wennblom TJ, Abril M, Letcher PM, Blackwell M, Roberson RW, McLaughlin DJ: An ontology of fungal subcellular traits. Am J Bot 2011, 98:1504-1510.
  • [23]Kirk PM, Cannon PF, David JC, Stalpers JA: Ainsworth & Bisby's Dictionary of the Fungi. 9th edition. Wallingford, UK: CABI Publishing; 2001.
  • [24]Peterson KJ, Arenas-Mena C, Davidson EH: The A/P axis in echinoderm ontogeny and evolution: evidence from fossils and molecules. Evol Dev 2000, 2:93-101.
  • [25]Paxinos G, Watson C: The Rat Brain in Stereotaxic Coordinates. 1st edition. Sydney: Academic Press; 1982.
  • [26]Kaufman M: The Atlas of Mouse Development. 1st edition. London, UK: Elsevier Academic Press; 1992.
  • [27]Zitova B, Flusser J: Image registration methods: a survey. Image Vis Comput 2003, 21:977-1000.
  • [28]Carlquist S: Comparative Wood Anatomy: Systematic, Ecological, and Evolutionary Aspects of Dicotyledon Wood. Berlin: Springer; 2001.
  • [29]Rosse C, Mejino JLV: A reference ontology for bioinformatics: The Foundational Model of Anatomy. J Biomed Inform 2003, 36:478-500.
  • [30]Lundberg JG: The phylogeny of ictalurid catfishes: A synthesis of recent work. In Systematics, Historical Ecology, and North American Freshwater Fishes. Edited by Mayden RL. Stanford: Stanford University Press; 1992:392-420.
  • [31]Gauthier JA, Kluge AG, Rowe T: Amniote phylogeny and the importance of fossils. Cladistics 1988, 4:105-209.
  • [32]Mungall CJ, Torniai C, Gkoutos GV, Lewis SE, Haendel MA: Uberon, an integrative multi-species anatomy ontology. Genome Biol 2012, 13:R5.
  • [33]Haendel MA, Balhoff JP, Bastian FB, Blackburn DC, Blake JA, Comte A, Dahdul WM, Dececchi TA, Druzinsky RE, Hayamizu TF, Ibrahim N, Lewis SE, Mabee PM, Niknejad A, Robinson-Rechavi M, Sereno PC, Mungall CJ: Uberon: Unification of multi-species vertebrate anatomy ontologies for comparative biology. J Biomed Semant 2014, 5:21.
  • [34]Gkoutos GV, Green EC, Mallon AM, Hancock JM, Davidson D: Using ontologies to describe mouse phenotypes. Genome Biol 2004, 6:R8.
  • [35]Porcher A, Dostatni N: The bicoid morphogen system. Curr Biol 2010, 20:R249-R254.
  • [36]Segerdell E, Ponferrada VG, James-Zorn C, Burns KA, Fortriede JD, Dahdul WM, Vize PD, Zorn AM: Enhanced XAO: the ontology of Xenopus anatomy and development underpins more accurate annotation of gene expression and queries on Xenbase. J Biomed Semant 2013, 4:31.
  • [37]Cooper L, Walls RL, Elser J, Gandolfo MA, Stevenson DW, Smith B, Preece J, Athreya B, Mungall CJ, Rensing S, Hiss M, Lang D, Reski R, Berardini TZ, Li D, Huala E, Schaeffer M, Menda N, Arnaud E, Shrestha R, Yamazaki Y, Jaiswal P: The Plant Ontology as a tool for comparative plant anatomy and genomic analyses. Plant Cell Physiol 2013, 54:e1.
  • [38]Walls RL, Athreya B, Cooper L, Elser J, Gandolfo MA, Jaiswal P, Mungall CJ, Preece J, Rensing S, Smith B, Stevenson DW: Ontologies as integrative tools for plant science. Am J Bot 2012, 99:1263-1275.
  • [39]Mungall CJ, Gkoutos GV, Smith CL, Haendel MA, Lewis SE, Ashburner M: Integrating phenotype ontologies across multiple species. Genome Biol 2010, 11:R2.
  • [40]Dahdul WM, Balhoff JP, Engeman J, Grande T, Hilton EJ, Kothari C, Lapp H, Lundberg JG, Midford PE, Vision TJ, Westerfield M, Mabee PM: Evolutionary characters, phenotypes and ontologies: curating data from the systematic biology literature. PLoS One 2010, 5:e10708.
  • [41]Mabee P, Balhoff JP, Dahdul WM, Lapp H, Midford PE, Vision TJ, Westerfield M: 500,000 fish phenotypes: The new informatics landscape for evolutionary and developmental biology of the vertebrate skeleton. J Appl Ichthyol 2012, 28:300-305.
  • [42]Bradford Y, Conlin T, Dunn N, Fashena D, Frazer K, Howe DG, Knight J, Mani P, Martin R, Moxon SA, Paddock H, Pich C, Ramachandran S, Ruef BJ, Ruzicka L, Bauer Schaper H, Schaper K, Shao X, Singer A, Sprague J, Sprunger B, Van Slyke C, Westerfield M: ZFIN: enhancements and updates to the Zebrafish Model Organism Database. Nucleic Acids Res 2011, 39:D822-D829.
  • [43]Balhoff JP, Mikó I, Yoder MJ, Mullins PL, Deans AR: A semantic model for species description applied to the ensign wasps (Hymenoptera: Evaniidae) of New Caledonia. Syst Biol 2013, 62:639-659.
  • [44]Cui H: CharaParser for fine-grained semantic annotation of organism morphological descriptions. J Am Soc Inf Sci Technol 2012, 63:738-754.
  • [45]Kazakov Y, Krötzsch M, Simančík F: Concurrent Classification of EL Ontologies. In Proceedings of the 10th International Semantic Web Conference (ISWC-11) LNCS 7032. Edited by Aroyo L, Welty C, Alani H, Taylor J, Bernstein A, Kagal L, Noy N, Blomqvist E. Berlin, Heidelberg: Springer-Verlag; 2011:305-320.
  • [46]Pan J, Horrocks I: OWL-Eu: Adding customised data types into OWL. In European Semantic Web Conference Lecture Notes in Computer Science. Edited by Gómez-Pérez A, Euzenat J. Berlin-Heidelberg: Springer; 2005:153-166.
  • [47]Deegan née Clark JI, Dimmer EC, Mungall CJ: Formalization of taxon-based constraints to detect inconsistencies in annotation and ontology development. BMC Bioinformatics 2010, 11:530.
  • [48]Smith B, Ceusters W, Klagges B, Kohler J, Kumar A, Lomax J, Mungall C, Neuhaus F, Rector AL, Rosse C: Relations in biomedical ontologies. Genome Biol 2005, 6:R46.
  • [49]Day-Richter J, Harris M, Haendel M, The Gene Ontology OBO-Edit Working Group, Lewis S: OBO-Edit - an ontology editor for biologists. Bioinformatics Appl Note 2007, 23:2198-2200.
  • [50]Dahdul WM, Lundberg JG, Midford PE, Balhoff JP, Lapp H, Vision TJ, Haendel MA, Westerfield M, Mabee PM: The Teleost Anatomy Ontology: anatomical representation for the genomics age. Syst Biol 2010, 59:369-383.
  • [51]Dahdul WM, Balhoff JP, Blackburn DC, Diehl AD, Haendel MA, Hall BK, Lapp H, Lundberg JG, Mungall CJ, Ringwald M, Segerdell E, Van Slyke CE, Vickaryous MK, Westerfield M, Mabee PM: A unified anatomy ontology of the vertebrate skeletal system. PLoS One 2012, 7:e51070.
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