PUBLICATION
Characterization of the Huntington's disease (HD) gene homolog in zebrafish Danio rerio
- Authors
- Karlovich, C.A., John, R.M., Ramirez, L., Stainier, D.Y.R., and Myers, R.M.
- ID
- ZDB-PUB-981020-2
- Date
- 1998
- Source
- Gene 217: 117-125 (Journal)
- Registered Authors
- Stainier, Didier
- Keywords
- trinucleotide repeat; protein alignment; 3'-untranslated region; embryogenesis; sequence variation
- MeSH Terms
-
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA Primers
- DNA, Complementary
- Embryo, Nonmammalian/physiology
- Fishes
- Gene Expression Regulation, Developmental*
- Gene Library
- Humans
- Huntington Disease/genetics*
- Mice
- Molecular Sequence Data
- Nerve Tissue Proteins/biosynthesis
- Nerve Tissue Proteins/chemistry
- Nerve Tissue Proteins/genetics*
- Nuclear Proteins/biosynthesis
- Nuclear Proteins/chemistry
- Nuclear Proteins/genetics*
- Rats
- Recombinant Fusion Proteins/biosynthesis
- Recombinant Fusion Proteins/chemistry
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Alignment
- Sequence Homology, Amino Acid
- Trinucleotide Repeats*
- Zebrafish/embryology
- Zebrafish/genetics*
- PubMed
- 9795179 Full text @ Gene
Citation
Karlovich, C.A., John, R.M., Ramirez, L., Stainier, D.Y.R., and Myers, R.M. (1998) Characterization of the Huntington's disease (HD) gene homolog in zebrafish Danio rerio. Gene. 217:117-125.
Abstract
The Huntington's disease (HD) gene contains a trinucleotide repeat that is expanded and unstable in patients with the disease (HDCRG, 1993). As the first step toward investigating a potential role for this gene in early vertebrate development, we isolated the homolog of the Huntington's disease (ZHD) cDNA in zebrafish. This cDNA encodes a predicted protein product of 3121 amino acids with 70% identity to human huntingtin. The first exon is predicted to encode four glutamines, followed by only one proline, demonstrating that the polymorphic polyproline stretch found in mammalian HD sequences is absent in the fish. We sequenced approximately 900bp upstream from the predicted start codon and found that it lacks a TATA box, CCAAT box, or Sp1 binding sites. Western blot analysis revealed that the protein is expressed at a high level in late embryonic development and at moderate levels in the adult head.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping