PUBLICATION

Zebrafish tbx5 paralogs demonstrate independent essential requirements in cardiac and pectoral fin development

Authors
Parrie, L.E., Renfrew, E.M., Vander Wal, A., Mueller, R.L., and Garrity, D.M.
ID
ZDB-PUB-130312-12
Date
2013
Source
Developmental Dynamics : an official publication of the American Association of Anatomists   242(5): 485-502 (Journal)
Registered Authors
Garrity, Deborah, Parrie, Lindsay
Keywords
zebrafish, cardiac, T-box, embryonic, divergence, fin, paralogs
MeSH Terms
  • Amino Acid Sequence
  • Animal Fins/embryology*
  • Animal Fins/metabolism
  • Animals
  • Body Patterning/genetics
  • Body Patterning/physiology
  • Embryo, Nonmammalian
  • Gene Duplication
  • Gene Expression Regulation, Developmental
  • Genetic Speciation
  • Genome/genetics
  • Heart/embryology*
  • Molecular Sequence Data
  • Morphogenesis/genetics
  • Phylogeny
  • Protein Isoforms/genetics
  • Sequence Homology
  • T-Box Domain Proteins/genetics
  • T-Box Domain Proteins/metabolism
  • T-Box Domain Proteins/physiology*
  • Zebrafish*/embryology
  • Zebrafish*/genetics
  • Zebrafish*/metabolism
PubMed
23441045 Full text @ Dev. Dyn.
Abstract

Background: T-box genes constitute a large family of transcriptional regulators involved in developmental patterning. Homozygous mutation of tbx5 leads to embryonic lethal cardiac phenotypes and forelimb malformations in vertebrate models. Haploinsufficiency of tbx5 results in Holt-Oram Syndrome, a human congenital disease characterized by cardiac and forelimb defects. Homozygous mutation of zebrafish tbx5a leads to lethal defects in cardiac looping morphogenesis, blocks pectoral fin initiation and impairs outgrowth. Recently, a second zebrafish tbx5 gene was described, termed tbx5b.

Results: Our phylogenetic analyses confirm tbx5b as a paralog that likely arose in the teleost-specific whole genome duplication ~270 MYA. Using morpholino depletion studies, we find that tbx5b is required in the heart for embryonic survival, and influences the timing and morphogenesis of pectoral fin development. Since tbx5a hypomorphic mutations are embryonic lethal, tbx5a and tbx5b functions in the heart must not be completely redundant. Consistent with this hypothesis, simultaneous depletion of both tbx5 paralogs did not lead to more severe phenotypes, and injection of wild-type mRNA from one tbx5 paralog was not sufficient to cross-rescue phenotypes of the paralogous gene.

Conclusions: Collectively, these data indicate that despite similar spatio-temporal expression patterns, tbx5a and tbx5b have independent functions in heart and fin development.

Genes / Markers
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping