Mutations in and genomic structure of HERG —a long...

Details Mutations in and genomic structure of HERG —a long... Mutations in and genomic structure of HERG —a long...

2007-11-20

2007-11-20

Qian, Celine (Department: 1636)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C536S024330, C435S325000

Reexamination Certificate

active

10696708

ABSTRACT:
The invention relates to the determination of the genomic structure of HERG which is a gene associated with long QT syndrome. The sequences of the 15 intron/exon junctions has been determined and this information is useful in devising primers for amplifying and sequencing across all of the exons of the gene. This is useful for determining the presence or absence of mutations which are known to cause long QT syndrome. Also disclosed are many new mutations in HERG which have been found to be associated with long QT syndrome.

REFERENCES:
patent: 5599673 (1997-02-01), Keating et al.
patent: 6207383 (2001-03-01), Keating et al.
Itoh et al (Human Genetics, 1998, vol. 102, pp. 435-439).
Ackerman, M.J., M.D., Ph.D., “The Long QT Syndrome: Ion Channel Diseases of the Heart”,Mayo Clin. Proc. 1998; 73:250-269.
Akimoto, K., et al., “Novel Missense Mutation (G601S) of HERG in a Japanese Long QT Syndrome Family”, Human Mutation Supplement 1998; 1:S184-S186.
Babij, P., et al., “Inhibition of Cardiac Delayed Rectifier K+Current by Overexpression of the Long-QT Syndrome HERG G628S Mutation in Transgenic Mice”,Circ. Res. 1998; 83(6):668-678.
Benson, D., et al., “Missense Mutation in the Pore Region ofHERGCauses Familial Long QT Syndrome”,CirculationMay 15, 1996; 93(10):1791-1795.
Curran, M., et al., “A Molecular Basis for Cardiac Arrhythmia:HERGMutations Cause Long QT Syndrome”,CellMar. 10, 1995; 80:795-803.
Dausse, E., et al., “A mutation in HERG Associated with Notched T Waves in Long QT Syndrome”,J. Mol. Cell Cardiol.1996; 28:1609-1615.
Fung, D., et al., “Rsal and Mael intragenic RFLPs in the human HERG gene”,Clin. Genet.1998; 53:504.
Itoh, T., et al., “Genomic organization and mutational analysis ofHERG, a gene responsible for familial long QT syndrome”,Hum. Genet.1998; 103:290-294.
Janse, M.J. and Wilde, A.A.M., “Molecular Mechanisms of Arrhythmias”,Rev. Port. Cardiol.1998; 17(Supl. II):41-46.
Jiang, C., et al., “Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity”,Nature GeneticsOct. 1994; 8:141-147.
Keating, M.T., MD, “Genetic Approaches to Cardiovascular Disease Supravalvular Aortic Stenosis, Williams Syndrome, and Long-QT Syndrome”,Circulation1995;92(1):142-147.
Keating, , M.T., “The Long QT Syndrome A Review of Recent Molecular Genetic and Physiologic Discoveries”,Medicine1996; 75(1):1-5.
Kupershmidt, S., et al., “A K+Channel Splice Variant Common in Human Heart Lacks a C-terminal Domain Required for Expression of Rapidly Activating Delayed Rectifier Current”,J. Biol. Chem.Oct. 16, 1998 273(42):27231-27235.
Lazzara, R., “Mechanisms and management of congenital and acquired long QT syndromes”,Arch. Mal. Coeur Vass.1996; 89(Spec. No. 1)51-55.
Locati, E.H., et al., “Age-and Sex-Related Differences in Clinical Manifestations in Patients With Congenital Long-QT Syndrome”,CirculationJun. 9, 1998; 97(22):2237-2244.
London, B., et al., “Two Isoforms of the MouseEther-a-go-go-Related Gene Coassemble to Form Channels With Properties Similar to the Rapidly Activating Component of the Cardiac Delayed Rectifier K+Current”,Circ. Res.Nov. 1997; 81(5):870-878.
McDonald, T., et al., “A minK-HERG complex regulates the cardiac potassium currentIKr”,NatureJul. 17, 1997; 388:289-292.
Roden, D.M., et al., “Multiple Mechanisms in the Long-QT Syndrome”,Circulation1996; 94(8):1996-2012.
Roden, D.M., et al., “Recent Advances in Understanding the Molecular Mechanisms of the Long QT Syndrome”,J. Cardiovasc. Electrophysiol.Nov. 1995; 6(11)1023-1031.
Sanguinetti, M.C., et al., “A Mechanistic Link between an Inherited and an Acquired Cardiac Arrhythmia:HERGEncodes the IKrPotassium Channel”,CellApr. 21, 1995; 81:229-307.
Satler, C., et al., “Multiple different missense mutations in the pore region ofHERGin patients with long QT syndrome”,Hum. Genet.1998; 102:265-272.
Salter, C., et al., “Novel Missense Mutation in the Cyclic Nucleotide-Binding Domain ofHERGCauses Long QT Syndrome”,American Journal of Medical Genetics1996; 65:27-35.
Schönherr, R., et al., “Molecular determinants for activation and inactivation of HERG, a human inward rectifier potassium channel”,Journal of Physiology1996; 493.3:635-342.
Schulze-Bahr, E., et al., “Autosomal Recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous”,Hum. Genet.1997; 100:573-576.
Schwartz, P., et al., “Long QT Syndrome Patients With Mutations of theSCN5AandHERGGenes Have Differential Responses to Na+Channel Blockade and to Increases in Heart Rate”,CirculationDec. 15, 1995; 92(12):3381-3386.
Splawski, I., et al., “Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERGandKCNE1”,Genomics1998; 51:86-97.
Tanaka, T., et al., “Four NovelKVLQT1and Four NovelHERGMutations in Familial Long-QT Syndrome”,CirculationFeb. 4, 1997; 95(3):565-567.
Trudeau, M., et al., “HERG, a Human Inward Rectifier in the Voltage-Gated Potassium Channel Family”,ScienceJul. 7, 1995; 269:92-95, 1087.
Vincent, G.M. MD, “The Molecular Genetics of The Long QT Syndrome: Genes Causing Fainting and Sudden Death”,Annu. Rev. Med1998; 49;263-74.
van den Berg, M., et al., “The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene”,Hum. Genet.1997; 100:356-361.
Wang, Q., et al., “Genetics, molecular mechanisms and management of long QT syndrome”,Ann. Med.1998; 30:58-65.
Wang, Q., et al., “The molecular basis of long QT syndrome and prospects for therapy”,Mol. Med. TodaySep. 1998; 4(9):382-388.
Wang, Q., et al., “Molecular genetica of long QT syndrome from gene to patients”,Curr. Opin. Cardiol.1997; 12:310-320.
Warmke, J.W. et al., “A family of potassium channel gene related toeaginDrosophilaand mammals”Proc. Natl. Acad. Sci. USA91:3439-3442 (1994).
Waltanasirichaigoon, D., and Beggs, A.H., “Molecular genetics of long-QT syndrome”,Curr. Opin. Pediatr.1998; 10:628-634.
Zareba, W., et al., “Influence of the Genotype on the Clinical Course of the Long-QT Syndrome”,N. Eng. J. Med.Oct. 1998; 339(14):960-965.
Zhou, Z., et al., “HERG Channel Cysfunction in Human Long QT Syndrome”,J. Biol. Chem.Aug. 14, 1998; 273(33):21061-21066.
Zou, A., et al., “A mutation in the pore region of HERG K+channels expressed inXenopus oocytesreduces rectification by shifting the voltage dependence of inactivation”,Journal of Physiology, 1998; 509.1:129-137.
Omim Entry 152427—Long QT Syndrome, Type 2; LQT2 7pp., no date.

Affiliated with

Also associated with

Rating

Mutations in and genomic structure of HERG —a long... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Mutations in and genomic structure of HERG —a long..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Mutations in and genomic structure of HERG —a long... will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3840060