1 / 23

Linking Animal Models to Human Diseases

Linking Animal Models to Human Diseases. Supported by NIH P41 HG002659 and U54 HG002659 the University of Oregon, Eugene, OR. http://zfin.org. Goals Annotate zebrafish phenotypes Identify human disease models Example - holoprosencephaly Progress. Zebrafish disease models:.

fell
Download Presentation

Linking Animal Models to Human Diseases

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Linking Animal Models to Human Diseases Supported by NIH P41 HG002659 and U54 HG002659 the University of Oregon, Eugene, OR http://zfin.org

  2. Goals Annotate zebrafish phenotypes Identify human disease models Example - holoprosencephaly Progress

  3. Zebrafish disease models: Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype

  4. Zebrafish disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  5. Zebrafish disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  6. Zebrafish disease models: Mutant Gene Mutant or missing ProteinMutant Phenotype (disease) Humans Animal models Mutant Gene Mutant or missing ProteinMutant Phenotype (disease model)

  7. Goals Annotate zebrafish phenotypes Identify human disease models Example - holoprosencephaly Progress

  8. SHH-/+ SHH-/- shh-/+ shh-/-

  9. Phenotypic character = entity + attribute + value

  10. Phenotypic character = entity + attribute + value PC1 = eye + placement + mislocalized

  11. Phenotypic character = entity + attribute + value PC1 = eye + placement + mislocalized PC2 = midface + structure + hypoplastic

  12. Phenotypic character = entity + attribute + value PC1 = eye + placement + mislocalized PC2 = midface + structure + hypoplastic PC3 = kidney + size + hypertrophied

  13. Phenotypic character = entity + attribute + value PC1 = eye + placement + mislocalized PC2 = midface + structure + hypoplastic PC3 = kidney + size + hypertrophied ZFIN: entity = eye entity = midface entity = kidney PATO: attribute = placement value = mislocalized attribute = structure value = hypoplastic attribute = size value = hypertrophied +

  14. Phenotypic character = entity + attribute + value Anatomical ontology Cell & tissue ontology Developmental ontology Gene ontology biological process molecular function cellular component + PATO

  15. Phenotypic character = entity + attribute + value PC1 = eye + placement + mislocalized PC2 = midface + structure + hypoplastic PC3 = kidney + size + hypertrophied Syndrome (or disease) = PC1 + PC2 + PC3 = holoprosencephaly

  16. Human holo- prosencephaly Zebrafish shh Zebrafish oep

  17. Goals Annotate zebrafish phenotypes Identify human disease models Example - holoprosencephaly Progress

  18. ZFIN mutant genes

  19. OMIM genes ZFIN mutant genes

  20. OMIM genes ZFIN mutant genes FlyBase mutant genes

  21. PATO development: • Test curation of zebrafish publications • Initial curation of phenotypes • 200 zebrafish mutations(Tübingen, MIT) • Morpholino phenotypes (Univ. of Minnesota) • 400 Medaka mutations (Kyoto) • CToL - taxonomy & phylogenies • OBO-discuss email list for discussions

  22. http://zfin.org Melissa Haendel -anatomy ontology Doug Howe - GO Erik Segerdell - PATO Sierra Taylor - database schema Supported by NIH P41 HG002659 and U54 HG002659 University of Oregon, Eugene, Oregon

More Related