+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on LinkedInFollow on LinkedIn

+ Translate

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences

Genomics 90(2): 225-235

The human voltage-gated sodium channel gene cluster on chromosome 2q24 contains three paralogs, SCN1A, SCN2A, and SCN3A, which are expressed in the central nervous system. Mutations in SCN1A and SCN2A cause several subtypes of idiopathic epilepsy. Furthermore, many SCN1A mutations are predicted to reduce protein levels, emphasizing the importance of precise sodium channel gene regulation. To investigate the genetic factors that regulate the expression of SCN1A, SCN2A, and SCN3A, we characterized the 5' untranslated region of each gene. We identified multiple noncoding exons and observed brain region differences in the expression levels of noncoding exons. Comparative sequence analysis revealed 33 conserved noncoding sequences (CNSs) between the orthologous mammalian genes and 6 CNSs between the three human paralogs. Seven CNSs corresponded to noncoding exons. Twelve CNSs were evaluated for their ability to alter the transcription of a luciferase reporter gene, and 3 resulted in a modest, but statistically significant change. (c) 2007 Elsevier Inc. All rights reserved.

(PDF emailed within 0-6 h: $19.90)

Accession: 015249104

Download citation: RISBibTeXText

PMID: 17544618

DOI: 10.1016/j.ygeno.2007.04.006

Related references

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. Human Genetics 133(5): 651-659, 2014

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. Pharmacogenetics and Genomics 18(11): 989-998, 2008

Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. Journal of Neuroscience Research 86(15): 3375-3381, 2008

Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium. Molecular and Cellular Pediatrics 2(1): 5-5, 2015

A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2. Genomics 36(1): 202-205, 1996

Tri-cyclic antidepressant agents and their metabolites block voltage-gated SCN3A sodium channels. Biophysical Journal 84(2 Part 2): 214a, February, 2003

Identification of a conserved membrane retention motif in the alpha subunit of voltage gated sodium channels. Molecular Biology of the Cell 13(Supplement): 54a, 2002

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. American Journal of Medical Genetics. Part A 155a(4): 920-923, 2011

Characterization of the terminal regions of hepatitis C viral RNA: identification of conserved sequences in the 5' untranslated region and poly(A) tails at the 3' end. Proceedings of the National Academy of Sciences of the United States of America 88(5): 1711-1715, 1991

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics 14(10): 1153-1166, 2014

Identification and functional characterization of voltage-gated sodium channels in lymphocytes. Biochemical and Biophysical Research Communications 458(2): 294-299, 2015

Functional expression of the human neuronal voltage-gated sodium channel SCN1A and characterization of mutants associated with familial epilepsy. Biophysical Journal 82(1 Part 2): 353a, January, 2002

Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. British Journal of Clinical Pharmacology 68(2): 214-220, 2010