Browse > Article

Cloning and Expression of Human KCNE1 Gene  

Ye, Qing (Department of Biology, Keimyung University)
Kim, Su-Won (Department of Biology, Keimyung University)
Kim, Jong-Won (Department of Biology, Keimyung University)
Yoo, Min (Department of Biology, Keimyung University)
Abstract
KCNE1 is the causal gene of long QT syndrome. KCNE1 gene is located in chromosome 21. In compliance with this KCNE1 gene the proteins come out. KCNE1 is responsible for $K^+$ channel which maintains the normal function of the heart muscle for contraction. Affected individuals manifest prolongation of the QT interval on electrocardiongrams, a sign of abnormal cardiac repolarization. The clinical features of LQT result from episodic cardiac arrhythmias, such as torsade de pointes and ventricular fibrllation. Blood DNA was isolated and kept in $4^{\circ}C$ refrigerator. The KCNE1 gene was amplified by PCR method and about 414 bp band was identified by agarose gel electrophoresis. PCR products were inserted into pGEX-4T-1 vector in order to express KCNE1 protein after treatment with IPTG SDS-PAGE was carried out and the protein band which was about 47 kDa was clearly odserved. Results of this study would contribute to the detailed understanding of KCNE1 protein function and to designing better treatment of Long QT symdrome.
Keywords
KCNE1 geng; Long QT syndrome; QT interval; $K^+$ charmel; pGEX-4T-1 vector; SDS-PAGE; Clonging; Expression;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004. 119: 19-31.   DOI   ScienceOn
2 Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keatine MT. A molecular basis for cardiac arrhythmia: BERG mutations cause long QT syndrome. Cell 1995. 80: 795-803.   DOI   ScienceOn
3 Keating MT. The long QT syndrome. A review of recent molecular and phtsiologic discoveries. Medicine 1996. 75: 1-5.   DOI   ScienceOn
4 Murai T, Kakizuka A, Takumi T, Ohkubo H, Nakanishi S. Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity. Biochem Biophys Res Commun. 1989. 161: 176-181.   DOI   ScienceOn
5 Ward Q. A new familial cardiac syndrome in children. J Ir med Assoc 1964. 54: 103-106.
6 Jervell A, Lange-Nielsen F. Coneenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am Heart J. 1957. 54: 59-68.   DOI   ScienceOn
7 Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT. Spectrum of mutations in long QT syndrome genes: KVLQTl, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000.102: 1178-1185.   DOI   ScienceOn
8 Schott J, Charpentie, F, Peltier S, Foley P, Drouin E, Bouhour J, Donnelly P, Vergnaud G, Bachner L, Moisan J, Le Marec H, Pascal O. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995. 57: 1114-1122.
9 Romano C, Gemrne G, Pongiglione R. Artimie Cardiach rare dell'eta pediatnca II. Accessi sincopali per fibnllazione ventricolare parossitica. Clin Pediatr. 1963. 45: 656-683.
10 Lehnart SE, Ackennan MJ, Benson DW Jr, Brugada R, Clancy CE, Donahue JK, George AL Jr, Grant AO, Groft SC, January CT, Lathrop DA, Lederer WJ, Makielski JC, Mohler PJ, Moss A, Nerbonne JM, Olson TM, Przywara DA, Towbin JA, Wang LH, Marks AR. Inherited arrhythmias: A National Heart, Lung, and Blood Institute and Office of Rare Diseases Workshop Consensus Report About the Diagnosis, Pheno-typing, Molecular Mechanisms, and Therapeutic Approaches for Prinary Cardiomyopathies of Gene Mutations Affecting Ion Channel Function. Circulation 2007. 116: 2325-2345.   DOI   ScienceOn
11 Hirao H, Shimizu W, Kurita T, Suyama K, Aihara N, Kamakura S, Sbimomura K. Frequency-dependent electophysiologic properties of ventricular repolarization in patients with congenital long QT syndrome. J Am Coli Cardiol. 1996. 28: 1269-1277.   DOI   ScienceOn
12 Jiang C, Atkinson D, Towbin J, Splawski I, Lehmann M, Li H, Timothy K, Taggart R, Schwartz P, Vincent G, Moss A, Keating. M. Two long QT syndrome loci map to Chromosome 3 and 7 with evidence for further heterogeneity. Nat Genet. 1994. 8: 141-147.   DOI   ScienceOn
13 Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991. 252: 704-706.   DOI
14 Geelen JL, Doevendans. PA, Jongbloed RJE, Wellens HJJ, Geraedts JPM. Molecular genetics of inherited long QT syndromes. Eur Heart J. 1998. 19: 1427-1423.   DOI   ScienceOn
15 Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 2002. 105: 2592-2594.   DOI   ScienceOn
16 Yeo SI, Kim SW, Kim YN, You KH, Shin SW, Kim MH, Song JC, Yoo M. Complete Nucleotide Sequence of KCNEI in Korean Genome. J Biomed Lab Sci. 2002. 8: 185-8188.
17 Wang Q, Shen J, Splawski I, Atkinson D, Zhizhong L, Robinson J. Moss A, Towbin J, Keating M. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995. 80: 805-811.   DOI   ScienceOn
18 Splawski I, Tristani-Firouzi M, Lehmann MH, sanguinetti MC, Kesting MT. Mutations in the kminK gene cause ling QT syndrome and suppress Iks function. Nat Genet. 1997. 17: 338-340.   DOI   ScienceOn
19 Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatirnosirn S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003. 421: 634-639.   DOI   ScienceOn
20 Keating M, Dunn C, Atkinson D, Timothy K, Vincent GM, Leppert M. Consistent linkage of the long QT Syndrome to the Harvey ras-1 locus on chromosome II. Am J Hum Genet. 1991. 49: 1335-1339.