Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

Annals of Neurology

Volumn 75, Issue 4, 2014, Pages 542-549

  Chen, Ying Zhang ^a   Friedman, Jennifer R ^b   Chen, Dong Hui ^a   Chan, Guy C K ^c   Bloss, Cinnamon S ^d   Hisama, Fuki M ^a   Topol, Sarah E ^d   Carson, Andrew R ^d   Pham, Phillip H ^d   Bonkowski, Emily S ^a   Scott, Erick R ^d   Lee, Janel K ^d   Zhang, Guangfa ^d   Oliveira, Glenn ^d   Xu, Jian ^e   Scott Van Zeeland, Ashley A ^d   Chen, Qi ^f   Levy, Samuel ^d   Topol, Eric J ^d   Storm, Daniel ^c   Swanson, Phillip D ^a   Bird, Thomas D ^a,g   Schork, Nicholas J ^d   Raskind, Wendy H ^a,g,h   Torkamani, Ali ^d   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

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

^d SCRIPPS HEALTH   (United States)

^e NORTHWESTERN UNIVERSITY   (United States)

^f FUJIAN NORMAL UNIVERSITY   (China)

^g VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^h Education   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLYL CYCLASE 5; CYCLIC AMP; FORSKOLIN; PROPRANOLOL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY POSTURE; CASE REPORT; DYSARTHRIA; DYSKINESIA; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; EXOME; FAMILIAL DYSKINESIA WITH FACIAL MYOKYMIA; FEMALE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEK293 CELL LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERREFLEXIA; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOKYMIA; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS; WEAKNESS; YOUNG ADULT;

ADENYLATE CYCLASE; ADOLESCENT; CYCLIC AMP; DYSTONIC DISORDERS; FACIAL NERVE DISEASES; FEMALE; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; TRANSFECTION;

EID: 84899953492     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24119     Document Type: Article

References (27)

1. Chen YZ, Matsushita MM, Robertson P, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012; 69: 630-635.
2. Linder JU,. Class III adenylyl cyclases: molecular mechanisms of catalysis and regulation. Cell Mol Life Sci 2006; 63: 1736-1751.
3. Buck J, Sinclair ML, Schapal L, et al. Cytosolic adenylyl cyclase defines a unique signaling molecule in mammals. Proc Natl Acad Sci U S A 1999; 96: 79-84.
4. Matsuoka I, Suzuki Y, Defer N, et al. Differential expression of type I, II, and V adenylyl cyclase gene in the postnatal developing rat brain. J Neurochem 1997; 68: 498-506.
5. Iwamoto T, Okumura S, Iwatsubo K, et al. Motor dysfunction in type 5 adenylyl cyclase-null mice. J Biol Chem 2003; 278: 16936-16940.
6. Fernandez M, Raskind W, Wolff J, et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 2001; 49: 486-492.
7. 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: 570-574.
8. International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449: 851-861.
9. 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
10. Bailey JA, Gu Z, Clark RA, et al. Recent segmental duplications in the human genome. Science 2002; 297: 1003-1007.
11. Chen DH, Naydenov A, Blankman JL, et al. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat 2013; 34: 1672-1678.
12. Chan GC, Tonegawa S, Storm DR,. Hippocampal neurons express a calcineurin-activated adenylyl cyclase. J Neurosci 2005; 25: 9913-9918.
13. Salomon Y,. Cellular responsiveness to hormones and neurotransmitters: conversion of [3H]adenine to [3H]cAMP in cell monolayers, cell suspensions, and tissue slices. Methods Enzymol 1991; 195: 22-28.
14. Petrovski S, Wang Q, Heinzen EL, et al. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013; 9: e1003709.
15. Saburi S, Hester I, Goodrich L, McNeill H,. Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity. Development 2012; 139: 1806-1820.
16. Namekata K, Enokido Y, Iwasawa K, Kimura H,. MOCA induces membrane spreading by activating Rac1. J Biol Chem 2004; 279: 14331-14337.
17. Chen Q, Peto CA, Shelton GD, et al. Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. J Neurosci 2009; 29: 118-130.
18. Dorschner MO, Amendola LM, Turner EH, et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 2013; 93: 631-640.
19. Bird TD, Carlson CB, Hall JG,. Familial essential ("benign") chorea. J Med Genet 1976; 13: 357-362.
20. Bird TD, Hall JG,. Additional information on familial essential (benign) chorea. Clin Genet 1978; 14: 271-272.
21. 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: 47785-47793.
22. Cooper EC, Jan LY,. M-channels: neurological diseases, neuromodulation, and drug development. Arch Neurol 2003; 60: 496-500.
23. Kamenetsky M, Middelhaufe S, Bank EM, et al. Molecular details of cAMP generation in mammalian cells: a tale of two systems. J Mol Biol 2006; 362: 623-639.
24. Whisnant RE, Gilman AG, Dessauer CW,. Interaction of the two cytosolic domains of mammalian adenylyl cyclase. Proc Natl Acad Sci U S A 1996; 93: 6621-6625.
25. Hardin M, Zielinski J, Wan ES, et al. CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland. Am J Respir Cell Mol Biol 2012; 47: 203-208.
26. Nordman S, Abulaiti A, Hilding A, et al. Genetic variation of the adenylyl cyclase 3 (AC3) locus and its influence on type 2 diabetes and obesity susceptibility in Swedish men. Int J Obes (Lond) 2008; 32: 407-412.
27. Pierre S, Eschenhagen T, Geisslinger G, Scholich K,. Capturing adenylyl cyclases as potential drug targets. Nat Rev Drug Discov 2009; 8: 321-335.