English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/81388
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:


Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

AuthorsAndrés-Mateos, Eva; Cruces, Jesús CSIC; Renart, Jaime CSIC ORCID; Montiel, Carmen
Issue Date2006
CitationGene 380(1): 54-61 (2006)
AbstractA small expansion of a CAG repeat domain in exon 47 of the human CACNA1A gene, which codes for the pore-forming α1A subunit of P/Q-type Ca2+ channels, causes spinocerebellar ataxia type-6. Only the human α1A protein has been demonstrated to contain the poly(Q) tract, although this locus has also recently been detected in ape genomes. To our knowledge, no further information has been published on other mammal species. Here, we have cloned the full-length α1A subunit in a non-primate species, the cow. The results have made it possible to explore the exon organization of the bovine CACNA1A gene as well as the splice α1A isoforms expressed by bovine chromaffin cells. We found a splice variant of the protein that, as in humans, also contains a polymorphic poly(Q) tract. Based on this result and using data from different Genome Databases, we performed an interspecies comparison of exon 47 and discovered that the poly(Q) tract is present in all the species studied, with the exception of primitive fish and rodents. Our results provide insight into the evolution of the CAG repeat tract at the C-terminus coding region of the CACNA1A gene. © 2006 Elsevier B.V. All rights reserved.
Identifiersdoi: 10.1016/j.gene.2006.06.003
issn: 0378-1119
e-issn: 1879-0038
Appears in Collections:(IIBM) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.