PUBLICATION

microCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system

Authors
Hur, M., Gistelinck, C.A., Huber, P., Lee, J., Thompson, M.H., Monstad-Rios, A.T., Watson, C.J., McMenamin, S.K., Willaert, A., Parichy, D.M., Coucke, P., Kwon, R.Y.
ID
ZDB-PUB-170909-4
Date
2017
Source
eLIFE   6: (Journal)
Registered Authors
Coucke, Paul, Kwon, Ronald, McMenamin, Sarah, Parichy, David M., Willaert, Andy
Keywords
computational biology, evolutionary biology, genomics, systems biology, zebrafish
MeSH Terms
  • Animals
  • Biological Variation, Population*
  • Humans
  • Sensitivity and Specificity
  • Skeleton/anatomy & histology*
  • Skeleton/diagnostic imaging*
  • X-Ray Microtomography/methods*
  • Zebrafish/anatomy & histology*
PubMed
28884682 Full text @ Elife
Abstract
Phenomics, which ideally involves in-depth phenotyping at the whole-organism scale, may enhance our functional understanding of genetic variation. Here, we demonstrate methods to profile hundreds of phenotypic measures comprised of morphological and densitometric traits at a large number of sites within the axial skeleton of adult zebrafish. We show the potential for vertebral patterns to confer heightened sensitivity, with similar specificity, in discriminating mutant populations compared to analyzing individual vertebrae in isolation. We identify phenotypes associated with human brittle bone disease and thyroid stimulating hormone receptor hyperactivity. Finally, we develop allometric models and show their potential to aid in the discrimination of mutant phenotypes masked by alterations in growth. Our studies demonstrate virtues of deep phenotyping in a spatially distributed organ system. Analyzing phenotypic patterns may increase productivity in genetic screens, and facilitate the study of genetic variants associated with smaller effect sizes, such as those that underlie complex diseases.
Errata / Notes
Data at Dryad
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping