PUBLICATION
Chapter 5 - Studying Human Genetic Variation in Zebrafish. En: Cellular and Animal Models in Human Genomics Research (Translational and Applied Genomics Series)
- Authors
- Lepanto, P., Zolessi, F.R., Badano, J.L.
- ID
- ZDB-PUB-210811-18
- Date
- 2019
- Source
- Elsevier Science : 89-117 (Chapter)
- Registered Authors
- Zolessi, Flavio
- Keywords
- Genome editing; morpholinos; transgenesis; copy number variants; genetic interactions; ciliopathies; deep-phenotyping
- MeSH Terms
- none
- PubMed
- none Full text @ Elsevier Science
Citation
Lepanto, P., Zolessi, F.R., Badano, J.L. (2019) Chapter 5 - Studying Human Genetic Variation in Zebrafish. En: Cellular and Animal Models in Human Genomics Research (Translational and Applied Genomics Series). Elsevier Science. :89-117.
Abstract
In the new genomic era, the challenge has shifted from the identification of genetic variants to their interpretation. In this context, animal models are key as they allow for the testing of the functional consequences of genomic findings in diverse physiological and pathological processes. Danio rerio (the zebrafish) is becoming a model of choice for a number of reasons. We cover this subject from the basic aspects of the experimental system to the different tools available to modulate gene function, and the broad possibilities for phenotyping. We discuss how zebrafish can be effectively used to dissect the genetic basis of human disease, helping us to understand causal relationships between genes and human conditions, evaluate the pathogenicity of variants of unknown effect, reveal genetic interactions between genes, and analyze the contribution of noncoding regions of the genome to health and disease.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping