Autosomal dominant familial dyskinesia and facial myokymia: Single exome sequencing identifies a mutation in adenylyl cyclase 5

Archives of Neurology

Volumn 69, Issue 5, 2012, Pages 630-635

  Chen, Ying Zhang ^a   Matsushita, Mark M ^a   Robertson, Peggy ^a   Rieder, Mark ^a   Girirajan, Santhosh ^a   Antonacci, Francesca ^a   Lipe, Hillary ^a   Eichler, Evan E ^a,c   Nickerson, Deborah A ^a   Bird, Thomas D ^a,d   Raskind, Wendy H ^a,b,d  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d DEPARTMENT OF VETERANS AFFAIRS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE 5; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADCY5 GENE; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EXOME; FACIAL MYOKYMIA; FAMILIAL DYSKINESIA; FILIP1L GENE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; HUMAN EXPERIMENT; LMOD3 GENE; MISSENSE MUTATION; NONSENSE MUTATION; NORMAL HUMAN; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A26 GENE; WDR52 GENE;

ADENYLATE CYCLASE; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXOME; FACIAL NERVE DISEASES; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GERMANY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84860913828     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.54     Document Type: Article

References (34)

1. Fernandez M, Raskind W, Wolff J, et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol. 2001;49(4):486-492. (Pubitemid 32281332)
2. Bird TD, Hall JG. Additional information on familial essential (benign) chorea. Clin Genet. 1978;14(5):271-272.
3. Raskind WH, Matsushita M, Peter B, et al. Familial dyskinesia and facial myokymia (FDFM): follow-up of a large family and linkage to chromosome 3p21-3q21. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(4):570-574.
4. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276.
5. Siepel A, Bejerano G, Pedersen JS, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005;15(8):1034-1050. (Pubitemid 41126859)
6. Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A; NISC Comparative Sequencing Program. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15(7):901-913. (Pubitemid 40994210)
7. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-3814. (Pubitemid 37442253)
8. Sunyaev S, Ramensky V, Koch I, LatheWIII, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet. 2001;10(6):591-597. (Pubitemid 32229363)
9. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30(17):3894-3900. (Pubitemid 35012462)
10. Selzer RR, Richmond TA, Pofahl NJ, et al. Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer. 2005;44(3):305-319. (Pubitemid 41397100)
11. Mefford HC, Muhle H, Ostertag P, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6(5):e1000962.
12. Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet. 2008;40(10):1199-1203.
13. Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009;84(2):148- 161.
14. 2+ channel Cav1.2. Science. 2001;293(5527):98-101.
15. Linder JU. Class III adenylyl cyclases: molecular mechanisms of catalysis and regulation. Cell Mol Life Sci. 2006;63(15):1736-1751. (Pubitemid 44223083)
16. Buck J, Sinclair ML, Schapal L, Cann MJ, Levin LR. Cytosolic adenylyl cyclase defines a unique signaling molecule in mammals. Proc Natl Acad Sci U S A. 1999;96(1):79-84. (Pubitemid 29036056)
17. Onda T, Hashimoto Y, Nagai M, et al. Type-specific regulation of adenylyl cyclase: selective pharmacological stimulation and inhibition of adenylyl cyclase isoforms. J Biol Chem. 2001;276(51):47785-47793.
18. Cooper DM. Molecular and cellular requirements for the regulation of adenylate cyclases by calcium. Biochem Soc Trans. 2003;31(pt 5):912-915. (Pubitemid 37305015)
19. Beazely MA, Watts VJ. Regulatory properties of adenylate cyclases type 5 and 6: a progress report. Eur J Pharmacol. 2006;535(1-3):1-12.
20. Girault JA, Greengard P. The neurobiology of dopamine signaling. Arch Neurol. 2004;61(5):641-644. (Pubitemid 38637678)
21. Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR. Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS. Science. 1997;278(5345):1907-1916. (Pubitemid 28013225)
22. Grantham R. Amino acid difference formula to help explain protein evolution. Science. 1974;185(4154):862-864.
23. Li WH, Wu CI, Luo CC. Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications. J Mol Evol. 1984;21(1):58-71. (Pubitemid 15172244)
24. Matsuoka I, Suzuki Y, Defer N, Nakanishi H, Hanoune J. Differential expression of type I, II, and V adenylyl cyclase gene in the postnatal developing rat brain. J Neurochem. 1997;68(2):498-506. (Pubitemid 27044708)
25. Lee KW, Hong JH, Choi IY, et al. Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. J Neurosci. 2002;22(18):7931-7940. (Pubitemid 35379098)
26. Iwamoto T, Okumura S, Iwatsubo K, et al. Motor dysfunction in type 5 adenylyl cyclase-null mice. J Biol Chem. 2003;278(19):16936-16940. (Pubitemid 36799567)
27. Finlay JM, Zigmond MJ. The effects of stress on central dopaminergic neurons: possible clinical implications. Neurochem Res. 1997;22(11):1387-1394. (Pubitemid 27461138)
28. Stone EA, John SM. Stress-induced increase of extracellular levels of cyclic AMP in rat cortex. Brain Res. 1992;597(1):144-147.
29. Kim KS, Han PL. Mice lacking adenylyl cyclase-5 cope badly with repeated restraint stress. J Neurosci Res. 2009;87(13):2983-2993.
30. Yan L, Vatner DE, O'Connor JP, et al. Type 5 adenylyl cyclase disruption increases longevity and protects against stress. Cell. 2007;130(2):247-258. (Pubitemid 47081133)
31. Okumura S, Takagi G, Kawabe J, et al. Disruption of type 5 adenylyl cyclase gene preserves cardiac function against pressure overload. Proc Natl Acad Sci U S A. 2003;100(17):9986-9990. (Pubitemid 37087055)
32. Okumura S, Vatner DE, Kurotani R, et al. Disruption of type 5 adenylyl cyclase enhances desensitization of cyclic adenosine monophosphate signal and increases Akt signal with chronic catecholamine stress. Circulation. 2007;116(16):1776-1783. (Pubitemid 350287102)
33. Hanoune J, Pouille Y, Tzavara E, et al. Adenylyl cyclases: structure, regulation and function in an enzyme superfamily. Mol Cell Endocrinol. 1997;128(1-2):179-194. (Pubitemid 27158144)
34. Ho D, Yan L, Iwatsubo K, Vatner DE, Vatner SF. Modulation of β-adrenergic receptor signaling in heart failure and longevity: targeting adenylyl cyclase type 5. Heart Fail Rev. 2010;15(5):495-512.