Research article
Huntingtin gene evolution in Chordata and its peculiar features in the ascidian Ciona genus
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* Corresponding authors: Graziano Pesole graziano.pesole@biologia.uniba.it - Elena Cattaneo elena.cattaneo@unimi.it
1 Dipartimento di Scienze Biomolecolari e Biotecnologie, Università di Milano, Milano, Italy
2 Dipartimento di Biochimica e Biologia Molecolare, Università di Bari, Bari, Italy
3 Department of Pharmacological Sciences and Center of Excellence on Neurodegenerative Diseases, University of Milano, Milano, Italy
BMC Genomics 2006, 7:288 doi:10.1186/1471-2164-7-288
Published: 8 November 2006Abstract
Background
To gain insight into the evolutionary features of the huntingtin (htt) gene in Chordata, we have sequenced and characterized the full-length htt mRNA in the ascidian Ciona intestinalis, a basal chordate emerging as new invertebrate model organism. Moreover, taking advantage of the availability of genomic and EST sequences, the htt gene structure of a number of chordate species, including the cogeneric ascidian Ciona savignyi, and the vertebrates Xenopus and Gallus was reconstructed.
Results
The C. intestinalis htt transcript exhibits some peculiar features, such as spliced leader trans-splicing in the 98 nt-long 5' untranslated region (UTR), an alternative splicing in the coding region, eight alternative polyadenylation sites, and no similarities of both 5' and 3'UTRs compared to homologs of the cogeneric C. savignyi. The predicted protein is 2946 amino acids long, shorter than its vertebrate homologs, and lacks the polyQ and the polyP stretches found in the the N-terminal regions of mammalian homologs. The exon-intron organization of the htt gene is almost identical among vertebrates, and significantly conserved between Ciona and vertebrates, allowing us to hypothesize an ancestral chordate gene consisting of at least 40 coding exons.
Conclusion
During chordate diversification, events of gain/loss, sliding, phase changes, and expansion of introns occurred in both vertebrate and ascidian lineages predominantly in the 5'-half of the htt gene, where there is also evidence of lineage-specific evolutionary dynamics in vertebrates. On the contrary, the 3'-half of the gene is highly conserved in all chordates at the level of both gene structure and protein sequence. Between the two Ciona species, a fast evolutionary rate and/or an early divergence time is suggested by the absence of significant similarity between UTRs, protein divergence comparable to that observed between mammals and fishes, and different distribution of repetitive elements.