Structural Analysis and Spatiotemporal Expression of Atxn1 Genes in Zebrafish Embryos and Larvae

• Published in: International journal of molecular sciences 2021-10, Vol.22 (21), p.11348
• Main Authors: Vauti, Franz, Vögele, Viktoria, Deppe, Isabel, Hahnenstein, Susanne T, Köster, Reinhard W
• Format: Article
• Language: English
• Subjects: Animals; Ataxia; Ataxin; ataxin-1; Ataxin-1 - genetics; Ataxin-1 - metabolism; Ataxin-1 - physiology; atxn1a; atxn1b; Cerebellum; Cerebellum - metabolism; Chromatin; Chromosomes; Danio rerio; Embryogenesis; Embryos; Frogs; Gene expression; Gene Expression - genetics; Gene Expression Regulation, Developmental - genetics; Gene loci; Genes; Genomes; Hybridization; Larva - metabolism; Larvae; Mammals; Motor ability; Nerve Tissue Proteins - metabolism; Neuropathology; Neurosciences; Nuclear Proteins - metabolism; Pathogenesis; Phylogenetics; Phylogeny; Polyglutamine; Polymerase chain reaction; Proteins; Repressors; SCA; Spatio-Temporal Analysis; Spinocerebellar ataxia; Spinocerebellar Ataxias - genetics; Structural analysis; Structure-Activity Relationship; Transcription factors; Trinucleotide repeats; Vertebrates; Zebrafish; Zebrafish - embryology; Zebrafish - metabolism; Zebrafish Proteins - metabolism
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms222111348

Zebrafish have come into focus to model cerebellar diseases such as spinocerebellar ataxias (SCAs), which is caused by an expansion of translated CAG repeats in several unrelated genes. In spinocerebellar ataxia type 1 (SCA1), gain-of-function in the mutant ATXN1 contributes to SCA1's neuropathy. Human ATXN1 and its paralog ATXN1L are chromatin-binding factors, act as transcriptional repressors, and have similar expression patterns. However, little is known about genes in zebrafish. Recently, two family members, and , were identified as duplicate orthologs of , as was a , the ortholog of . In this study, we analyzed the phylogenetic relationship of the family members in zebrafish, compared their genetic structures, and verified the predicted transcripts by both RT-PCR and whole-mount in situ hybridization. All three genes, , , and , show overlapping, but also distinct, expression domains during embryonic and larval development. While and display similar spatiotemporal embryonic expression, expression is initiated during the onset of brain development and is predominantly expressed in the cerebellum throughout zebrafish development. These results provide new insights into genes and their expression patterns in zebrafish during embryonic and late-larval development and may contribute importantly to future experiments in disease modeling of SCAs.