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Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter.
Genomics. 2005 Feb; 85(2):245-57.G

Abstract

To identify the transcriptional start sites of the neuronal channel SCN8A, we carried out 5'-RACE (rapid amplification of cDNA ends) with RNA from human and mouse brain. We recovered four mutually exclusive 5'-untranslated exons (exon 1a to exon 1d) that map to a 1.8-kb region of genomic DNA located approximately 70 kb upstream of the first coding exon. The same 5'-untranslated exons are expressed in central, peripheral and sympathetic nervous system and in embryonic and adult brain. A 4.8-kb genomic fragment containing these 5' exons demonstrated promoter activity in transfected MN-1 cells. In transgenic mice, transcription of the 4.8-kb promoter was restricted to brain and spinal cord. The 4.8-kb promoter contains eight consensus Sp1-binding sites and two Inr sites. A potential NRSE/RE-1 site is located nearby. Two active polyadenylation sites identified by 3'-RACE are conserved in human, mouse, and chicken SCN8A. Sequence comparison of human and mouse SCN8A identified 12 conserved noncoding elements whose effect on transcription was tested in transfected cells.

Authors+Show Affiliations

Department of Human Genetics, University of Michigan, 4708 Medical Science II, Ann Arbor, MI 48109-0618, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15676283

Citation

Drews, Valerie L., et al. "Multiple Transcripts of Sodium Channel SCN8A (Na(V)1.6) With Alternative 5'- and 3'-untranslated Regions and Initial Characterization of the SCN8A Promoter." Genomics, vol. 85, no. 2, 2005, pp. 245-57.
Drews VL, Lieberman AP, Meisler MH. Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics. 2005;85(2):245-57.
Drews, V. L., Lieberman, A. P., & Meisler, M. H. (2005). Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics, 85(2), 245-57.
Drews VL, Lieberman AP, Meisler MH. Multiple Transcripts of Sodium Channel SCN8A (Na(V)1.6) With Alternative 5'- and 3'-untranslated Regions and Initial Characterization of the SCN8A Promoter. Genomics. 2005;85(2):245-57. PubMed PMID: 15676283.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. AU - Drews,Valerie L, AU - Lieberman,Andrew P, AU - Meisler,Miriam H, PY - 2004/07/16/received PY - 2004/09/03/accepted PY - 2005/1/29/pubmed PY - 2005/7/28/medline PY - 2005/1/29/entrez SP - 245 EP - 57 JF - Genomics JO - Genomics VL - 85 IS - 2 N2 - To identify the transcriptional start sites of the neuronal channel SCN8A, we carried out 5'-RACE (rapid amplification of cDNA ends) with RNA from human and mouse brain. We recovered four mutually exclusive 5'-untranslated exons (exon 1a to exon 1d) that map to a 1.8-kb region of genomic DNA located approximately 70 kb upstream of the first coding exon. The same 5'-untranslated exons are expressed in central, peripheral and sympathetic nervous system and in embryonic and adult brain. A 4.8-kb genomic fragment containing these 5' exons demonstrated promoter activity in transfected MN-1 cells. In transgenic mice, transcription of the 4.8-kb promoter was restricted to brain and spinal cord. The 4.8-kb promoter contains eight consensus Sp1-binding sites and two Inr sites. A potential NRSE/RE-1 site is located nearby. Two active polyadenylation sites identified by 3'-RACE are conserved in human, mouse, and chicken SCN8A. Sequence comparison of human and mouse SCN8A identified 12 conserved noncoding elements whose effect on transcription was tested in transfected cells. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/15676283/Multiple_transcripts_of_sodium_channel_SCN8A__Na_V_1_6__with_alternative_5'__and_3'_untranslated_regions_and_initial_characterization_of_the_SCN8A_promoter_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0888-7543(04)00255-1 DB - PRIME DP - Unbound Medicine ER -