Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2 (Articolo in rivista)

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  • Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2 (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.jns.2008.08.030 (literal)
Alternative label
  • Veneziano L. 1; Guida S. 1; Mantuano E. 1;Bernard P. 1; Tarantino P. 2; Boccone L. 3; Hisama FM. 4; Carrera P. 5; Jodice C. 6,7; Frontali M. 1 (2009)
    Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2
    in Journal of the neurological sciences
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Veneziano L. 1; Guida S. 1; Mantuano E. 1;Bernard P. 1; Tarantino P. 2; Boccone L. 3; Hisama FM. 4; Carrera P. 5; Jodice C. 6,7; Frontali M. 1 (literal)
Pagina inizio
  • 31 (literal)
Pagina fine
  • 37 (literal)
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  • 276 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • 276(1-2) - Online 30 October 2008 [doi:10.1016/j.jns.2008.08.030] (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 7 (literal)
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  • 1-2 (literal)
Note
  • ubMe (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 - Istituto di Neurobiologia e Medicina Molecolare, CNR, Via Fosso del Cavaliere, 00133 Roma, Italy; 2 - Istituto di Scienze Neurologiche, CNR, Piano Lago di Mangone, Cosenza, Italy; 3 - Università di Cagliari, Ospedale Regionale Microcitemie, Cagliari, ITALIE 4 - Harvard Medical School, Childrens Hospital Boston, ETATS-UNIS 5 - Istituto Scientifico S. Raffaele, Lab. Biologia Molecolare e Clinica, Milano, Italy; 6 - Università Tor Vergata, Dipartimento di Biologia, Roma, Italy; 7 - CIMN-Inter-University Research Centre on the Molecular Basis of Neurodegenerative Diseases, Universities of Florence, Rome \"Tor Vergata\" and Milan, Italy (literal)
Titolo
  • Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2 (literal)
Abstract
  • The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. The structure of the human gene includes, at present, 49 exons; however almost nothing is known about the 5' regulatory region, and there is now evidence suggesting the presence of additional exons at the 3' of the gene. The 892 bp fragment upstream of exon 1 and its deletion mutants were characterised for their transcriptional activity by using luciferase as a reporter gene. The 3' region was analysed by Rapid Amplification of the cDNA 3' End. Both regions were screened for mutations in a series of FHM and EA patients by SSCP and sequencing. At the 5' end of the gene a minimal promoter region was identified within the first 497 bp from ATG. By screening a larger fragment for mutations, the 5 bp deletion (g.-757_-753delCTTTC) was identified in a FHM patient. The deletion significantly increased the transcriptional activity, most likely due to the removal of half a turn of the DNA helix, changing the orientation of downstream binding sites for transcriptional factors. At the 3' end of the gene a new exon 48, followed by a strong poly-A signal, was identified as well as a new splice variant. The 5 bp insertion (g.38429_38430insCTTTT) in this exon was found in an EA patient. The two new regions can open the way for the study of human CACNA1A gene expression regulation and can be sites of mutations associated with FHM or EA phenotypes. (literal)
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