Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 735-743

  Diggle, Christine P ^a   Sukoff Rizzo, Stacey J ^b   Popiolek, Michael ^b   Hinttala, Reetta ^c,d,e,f   Schülke, Jan Philip ^b   Kurian, Manju A ^g,h   Carr, Ian M ^a   Markham, Alexander F ^a   Bonthron, David T ^a   Watson, Christopher ^a   Sharif, Saghira Malik ^a   Reinhart, Veronica ^b   James, Larry C ^b   Vanase Frawley, Michelle A ⁱ   Charych, Erik ^b   Allen, Melanie ⁱ   Harms, John ^b   Schmidt, Christopher J ^b   Ng, Joanne ^g,j   Pysden, Karen ^k   Strick, Christine ^b   Vieira, Päivi ^c,d   Mankinen, Katariina ^l   Kokkonen, Hannaleena ^c,d   Kallioinen, Matti ^d   Sormunen, Raija ^c,d   Rinne, Juha O ^m   Johansson, Jarkko ^m   Alakurtti, Kati ^m   Huilaja, Laura ^c,d   Hurskainen, Tiina ^c,d   Tasanen, Kaisa ^c,d   Anttila, Eija ^c,d   Marques, Tiago Reis ⁿ   Howes, Oliver ^n,o   Politis, Marius ⁿ   Fahiminiya, Somayyeh ^e   Nguyen, Khanh Q ^f   Majewski, Jacek ^e   Uusimaa, Johanna ^c,d   Sheridan, Eamonn ^a   Brandon, Nicholas J ^b   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b PFIZER INC   (United States)

^c UNIVERSITY OF OULU   (Finland)

^d OULU UNIVERSITY HOSPITAL   (Finland)

^e MCGILL UNIVERSITY   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ PFIZER GLOBAL RESEARCH AND DEVELOPMENT   (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k LEEDS GENERAL INFIRMARY   (United Kingdom)

^l Lansi Pohja Central Hospital   (Finland)

^m TURKU UNIVERSITY HOSPITAL   (Finland)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

^o HAMMERSMITH HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2 [4 [1 METHYL 4 (4 PYRIDINYL) 3 PYRAZOLYL]PHENOXYMETHYL]QUINOLINE; CYCLIC AMP; CYSTEINE; PHOSPHODIESTERASE; PHOSPHODIESTERASE 10A; TYROSINE; UNCLASSIFIED DRUG; PDE10A PROTEIN, HUMAN; PDE10A PROTEIN, MOUSE; PHOSPHODIESTERASE INHIBITOR;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS STRIATUM; FAMILY; FEMALE; GENE; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERKINESIA; INFANCY; INFANT; MALE; MISSENSE MUTATION; MOTOR CONTROL; MOTOR DYSFUNCTION; MOUSE; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PDE10A GENE; POSITRON EMISSION TOMOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; ALLELE; AMINO ACID SEQUENCE; ANIMAL; BAGG ALBINO MOUSE; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETIC VARIATION; GENETICS; HEK293 CELL LINE; HYPERKINESIS; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CORPUS STRIATUM; DISEASE MODELS, ANIMAL; GENE EXPRESSION REGULATION; GENETIC VARIATION; HEK293 CELLS; HUMANS; HYPERKINESIS; MALE; MICE; MICE, INBRED BALB C; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHODIESTERASE INHIBITORS; PHOSPHORIC DIESTER HYDROLASES; SEQUENCE ALIGNMENT;

EID: 84964907325     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.015     Document Type: Article

References (34)

1. J.A. Beavo, and L.L. Brunton Cyclic nucleotide research - still expanding after half a century Nat. Rev. Mol. Cell Biol. 3 2002 710 718
2. M. Conti, and J. Beavo Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling Annu. Rev. Biochem. 76 2007 481 511
3. T.M. Coskran, D. Morton, F.S. Menniti, W.O. Adamowicz, R.J. Kleiman, A.M. Ryan, C.A. Strick, C.J. Schmidt, and D.T. Stephenson Immunohistochemical localization of phosphodiesterase 10A in multiple mammalian species J. Histochem. Cytochem. 54 2006 1205 1213
4. K.A. Jellinger The pathology of Parkinson's disease Adv. Neurol. 86 2001 55 72
5. F.O. Walker Huntington's disease Lancet 369 2007 218 228
6. M.R. DeLong, and T. Wichmann Circuits and circuit disorders of the basal ganglia Arch. Neurol. 64 2007 20 24
7. J. Gratwicke, M. Jahanshahi, and T. Foltynie Parkinson's disease dementia: a neural networks perspective Brain 138 2015 1454 1476
8. C.J. Schmidt, D.S. Chapin, J. Cianfrogna, M.L. Corman, M. Hajos, J.F. Harms, W.E. Hoffman, L.A. Lebel, S.A. McCarthy, F.R. Nelson, and et al. Preclinical characterization of selective phosphodiesterase 10A inhibitors: a new therapeutic approach to the treatment of schizophrenia J. Pharmacol. Exp. Ther. 325 2008 681 690
9. C. Giampà, D. Laurenti, S. Anzilotti, G. Bernardi, F.S. Menniti, and F.R. Fusco Inhibition of the striatal specific phosphodiesterase PDE10A ameliorates striatal and cortical pathology in R6/2 mouse model of Huntington's disease PLoS ONE 5 2010 e13417
10. L.S. Wilson, and N.J. Brandon Emerging biology of PDE10A Curr. Pharm. Des. 21 2015 378 388
11. T.R. Marques, S. Natesan, F. Niccolini, M. Politis, R.N. Gunn, G.E. Searle, O. Howes, E.A. Rabiner, and S. Kapur Phosphodiesterase 10A in Schizophrenia: A PET Study Using [(11)C]IMA107 Am. J. Psychiatry 2016 p201515040518
12. F. Niccolini, S. Haider, T. Reis Marques, N. Muhlert, A.C. Tziortzi, G.E. Searle, S. Natesan, P. Piccini, S. Kapur, E.A. Rabiner, and et al. Altered PDE10A expression detectable early before symptomatic onset in Huntington's disease Brain 138 2015 3016 3029
13. I.M. Carr, K.J. Flintoff, G.R. Taylor, A.F. Markham, and D.T. Bonthron Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families Hum. Mutat. 27 2006 1041 1046
14. I.M. Carr, E. Sheridan, B.E. Hayward, A.F. Markham, and D.T. Bonthron IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease Hum. Mutat. 30 2009 960 967
15. M.A. DePristo, E. Banks, R. Poplin, K.V. Garimella, J.R. Maguire, C. Hartl, A.A. Philippakis, G. del Angel, M.A. Rivas, M. Hanna, and et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat. Genet. 43 2011 491 498
16. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
17. H. Li, and R. Durbin Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 2010 589 595
18. H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin 1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools Bioinformatics 25 2009 2078 2079
19. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
20. J.P. Muyrers, Y. Zhang, V. Benes, G. Testa, J.M. Rientjes, and A.F. Stewart ET recombination: DNA engineering using homologous recombination in E. coli Methods Mol. Biol. 256 2004 107 121
21. M.L. Roach, J.L. Stock, R. Byrum, B.H. Koller, and J.D. McNeish A new embryonic stem cell line from DBA/1lacJ mice allows genetic modification in a murine model of human inflammation Exp. Cell Res. 221 1995 520 525
22. G. Longenecker, and A.B. Kulkarni Generation of gene knockout mice by ES cell microinjection Curr. Protoc. Cell Biol. Chapter 19 2009 14, 1-36
23. D.C. Rogers, J. Peters, J.E. Martin, S. Ball, S.J. Nicholson, A.S. Witherden, M. Hafezparast, J. Latcham, T.L. Robinson, C.A. Quilter, and E.M. Fisher SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice Neurosci. Lett. 306 2001 89 92
24. T.F. Seeger, B. Bartlett, T.M. Coskran, J.S. Culp, L.C. James, D.L. Krull, J. Lanfear, A.M. Ryan, C.J. Schmidt, C.A. Strick, and et al. Immunohistochemical localization of PDE10A in the rat brain Brain Res. 985 2003 113 126
25. E.I. Charych, L.X. Jiang, F. Lo, K. Sullivan, and N.J. Brandon Interplay of palmitoylation and phosphorylation in the trafficking and localization of phosphodiesterase 10A: implications for the treatment of schizophrenia J. Neurosci. 30 2010 9027 9037
26. I.A. Adzhubei, S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, P. Bork, A.S. Kondrashov, and S.R. Sunyaev A method and server for predicting damaging missense mutations Nat. Methods 7 2010 248 249
27. S. Threlfell, S. Sammut, F.S. Menniti, C.J. Schmidt, and A.R. West Inhibition of Phosphodiesterase 10A Increases the Responsiveness of Striatal Projection Neurons to Cortical Stimulation J. Pharmacol. Exp. Ther. 328 2009 785 795
28. A. Berardelli, J. Noth, P.D. Thompson, E.L. Bollen, A. Currà, G. Deuschl, J.G. van Dijk, R. Töpper, M. Schwarz, and R.A. Roos Pathophysiology of chorea and bradykinesia in Huntington's disease Mov. Disord. 14 1999 398 403
29. M.A. Pouladi, A.J. Morton, and M.R. Hayden Choosing an animal model for the study of Huntington's disease Nat. Rev. Neurosci. 14 2013 708 721
30. A.L.O. Hebb, H.A. Robertson, and E.M. Denovan-Wright Striatal phosphodiesterase mRNA and protein levels are reduced in Huntington's disease transgenic mice prior to the onset of motor symptoms Neuroscience 123 2004 967 981
31. F. Niccolini, S. Haider, T. Reis Marques, N. Muhlert, A.C. Tziortzi, G.E. Searle, S. Natesan, P. Piccini, S. Kapur, E.A. Rabiner, and et al. Altered PDE10A expression detectable early before symptomatic onset in Huntington's disease Brain 138 2015 3016 3029
32. D.S. Russell, O. Barret, D.L. Jennings, J.H. Friedman, G.D. Tamagnan, D. Thomae, D. Alagille, T.J. Morley, C. Papin, S. Papapetropoulos, and et al. The phosphodiesterase 10 positron emission tomography tracer, [18F]MNI-659, as a novel biomarker for early Huntington disease JAMA Neurol. 71 2014 1520 1528
33. D.H. Chen, A. Méneret, J.R. Friedman, O. Korvatska, A. Gad, E.S. Bonkowski, H.A. Stessman, D. Doummar, C. Mignot, M. Anheim, and et al. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations Neurology 85 2015 2026 2035
34. Y.Z. Chen, J.R. Friedman, D.H. Chen, G.C. Chan, C.S. Bloss, F.M. Hisama, S.E. Topol, A.R. Carson, P.H. Pham, E.S. Bonkowski, and et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia Ann. Neurol. 75 2014 542 549