PUBLICATION
Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models
- Authors
- Yusuff, T., Kellaris, G., Girirajan, S., Katsanis, N.
- ID
- ZDB-PUB-210407-59
- Date
- 2021
- Source
- Current opinion in genetics & development 68: 79-87 (Review)
- Registered Authors
- Katsanis, Nicholas
- Keywords
- none
- MeSH Terms
-
- Animals
- DNA Copy Number Variations*
- Disease Models, Animal
- Drosophila/genetics*
- Gene Dosage
- Genetic Association Studies
- Genetic Predisposition to Disease*
- High-Throughput Screening Assays
- Humans
- Neurodevelopmental Disorders/genetics*
- Zebrafish/genetics*
- PubMed
- 33812298 Full text @ Curr. Opin. Genet. Dev.
Citation
Yusuff, T., Kellaris, G., Girirajan, S., Katsanis, N. (2021) Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. Current opinion in genetics & development. 68:79-87.
Abstract
Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated with extensive pleiotropy and variable phenotypic expressivity. Despite the expansion of the fidelity of CNV detection, and the study of such lesions at the population level, understanding causal mechanisms for CNV phenotypes will require biological testing of constituent genes and their interactions. In this regard, model systems amenable to high-throughput phenotypic analysis of dosage-sensitive genes (and combinations thereof) are beginning to offer improved granularity of CNV-driven pathology. Here, we review the utility of Drosophila and zebrafish models for pathogenic CNV regions, highlight the advances made in discovery of single gene drivers and genetic interactions that determine specific CNV phenotypes, and argue for their validity in dissecting conserved developmental mechanisms associated with CNVs.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping