Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

Neurobiology of Aging

Volumn 32, Issue 11, 2011, Pages 1994-2005

  Guella, Ilaria ^a   Pistocchi, Anna ^a   Asselta, Rosanna ^a   Rimoldi, Valeria ^a   Ghilardi, Anna ^a   Sironi, Francesca ^b,c   Trotta, Luca ^b,c   Primignani, Paola ^b   Zini, Michela ^c   Zecchinelli, Anna ^c   Coviello, Domenico ^b   Pezzoli, Gianni ^c   Del Giacco, Luca ^a   Duga, Stefano ^a   Goldwurm, Stefano ^c  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c PARKINSON INSTITUTE   (Italy)

Author keywords

GIGYF2; Morpholino oligonucleotide; MPP+; Mutational screening; PARK11; Parkinson disease; Zebrafish

Indexed keywords

ADULT; AGED; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL LOSS; COHORT ANALYSIS; CONTROLLED STUDY; DEVELOPMENTAL GENE; DIENCEPHALON; DOPAMINERGIC NERVE CELL; EMBRYO; ETHNIC GROUP; EXON; FEMALE; GENE CLUSTER; GENE FUNCTION; GENE LOCUS; GENETIC IDENTIFICATION; GENETIC SCREENING; GIGYF2 GENE; HUMAN; ITALIAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PARK11 GENE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; ZEBRA FISH;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANIMALS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CLONING, ORGANISM; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; ITALY; MALE; MIDDLE AGED; PARKINSON DISEASE; ZEBRAFISH;

EID: 80052613693     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2009.12.016     Document Type: Article

References (52)

1. Anichtchik O., Diekmann H., Fleming A., Roach A., Goldsmith P., Rubinsztein D. Loss of PINK1 function affects development and results in neurodegeneration in zebrafish. J. Neurosci. 2008, 28(33):8199-8207.
2. Bai Q., Mullett S., Garver J., Hinkle D., Burton E. Zebrafish DJ-1 is evolutionarily conserved and expressed in dopaminergic neurons. Brain Res. 2006, 1113(1):33-44.
3. Bogaerts V., Engelborghs S., Kumar-Singh S., Goossens D., Pickut B., van der Zee J., Sleegers K., Peeters K., Martin J., Del-Favero J., Gasser T., Dickson D., Wszolek Z., De Deyn P., Theuns J., Van Broeckhoven C. A novel locus for Dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. Brain 2007, 130(Pt 9):2277-2291.
4. Bonifati V., Rizzu P., van Baren M., Schaap O., Breedveld G., Krieger E., Dekker M., Squitieri F., Ibanez P., Joosse M., van Dongen J., Vanacore N., van Swieten J., Brice A., Meco G., van Duijn C., Oostra B., Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003, 299(5604):256-259.
5. Bras J., Simón-Sánchez J., Federoff M., Morgadinho A., Januario C., Ribeiro M., Cunha L., Oliveira C., Singleton A. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum. Mol. Genet. 2009, 18(2):341-346.
6. Bretaud S., Allen C., Ingham P., Bandmann O. p53-dependent neuronal cell death in a DJ-1-deficient zebrafish model of Parkinson's disease. J. Neurochem. 2007, 100(6):1626-1635.
7. Bretaud S., Lee S., Guo S. Sensitivity of zebrafish to environmental toxins implicated in Parkinson's disease. Neurotoxicol. Teratol. 2004, 26(6):857-864.
8. Del Giacco L., Pistocchi A., Cotelli F., Fortunato A., Sordino P. A peek inside the neurosecretory brain through orthopedia lenses. Dev. Dyn. 2008, 237(9):2295-2303.
9. Del Giacco L., Sordino P., Pistocchi A., Andreakis N., Tarallo R., Di Benedetto B., Cotelli F. Differential regulation of the zebrafish orthopedia 1 gene during fate determination of diencephalic neurons. BMC Dev. Biol. 2006, 6:50.
10. Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G., Simons E., Chien H., Ferreira J., Horstink M., Abbruzzese G., Borroni B., Cossu G., Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E., Meco G., Oostra B., Bonifati V. GIGYF2 mutations are not a frequent cause of familial Parkinson's disease. Parkinsonism Relat. Disord. 2009, The Italian Parkinson Genetics Network.
11. Dufresne A., Smith R. The adapter protein GRB10 is an endogenous negative regulator of insulin-like growth factor signaling. Endocrinology 2005, 146(10):4399-4409.
12. Fahn S., Elton R.L. Unified Parkinson's Disease Rating Scale. Recent Developments in Parkinson's Disease 1987, MacMillan Health Care Information, Florham Park. S. Fahn, C.D. Marsden, D.B. Calne, M. Goldstein (Eds.).
13. Ferrer-Costa C., Gelpí J., Zamakola L., Parraga I., de la Cruz X., Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005, 21(14):3176-3178.
14. Flinn L., Bretaud S., Lo C., Ingham P., Bandmann O. Zebrafish as a new animal model for movement disorders. J. Neurochem. 2008, 106(5):1991-1997.
15. Flinn L., Mortiboys H., Volkmann K., Köster R., Ingham P., Bandmann O. Complex I deficiency and dopaminergic neuronal cell loss in parkin-deficient zebrafish (Danio rerio). Brain 2009, 132(Pt 6):1613-1623.
16. Giovannone B., Lee E., Laviola L., Giorgino F., Cleveland K., Smith R. Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling. J. Biol. Chem. 2003, 278(34):31564-31573.
17. Goldwurm S., Zini M., Di Fonzo A., De Gaspari D., Siri C., Simons E., van Doeselaar M., Tesei S., Antonini A., Canesi M., Zecchinelli A., Mariani C., Meucci N., Sacilotto G., Cilia R., Isaias I., Bonetti A., Sironi F., Ricca S., Oostra B., Bonifati V., Pezzoli G. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat. Disord. 2006, 12(7):410-419.
18. Guo Y., Jankovic J., Zhu S., Le W., Song Z., Xie W., Liao D., Yang H., Deng H. GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients. Neurosci. Lett. 2009, 454(3):209-211.
19. Hoehn M., Yahr M. Parkinsonism: onset, progression and mortality. Neurology 1967, 17(5):427-442.
20. Hughes A., Daniel S., Kilford L., Lees A. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55(3):181-184.
21. Hughes A., Daniel S., Lees A. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001, 57(8):1497-1499.
22. Jowett T., Lettice L. Whole-mount in situ hybridizations on zebrafish embryos using a mixture of digoxigenin- and fluorescein-labelled probes. Trends Genet. 1994, 10(3):73-74.
23. Kimmel C., Ballard W., Kimmel S., Ullmann B., Schilling T. Stages of embryonic development of the zebrafish. Dev. Dyn. 1995, 203(3):253-310.
24. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998, 392(6676):605-608.
25. Lautier C., Goldwurm S., Dürr A., Giovannone B., Tsiaras W., Pezzoli G., Brice A., Smith R. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am. J. Hum. Genet. 2008, 82(4):822-833.
26. Lesage S., Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum. Mol. Genet. 2009, 18(R1):R48-R59.
27. Maraganore D., de Andrade M., Lesnick T., Strain K., Farrer M., Rocca W., Pant P., Frazer K., Cox D., Ballinger D. High-resolution whole-genome association study of Parkinson disease. Am. J. Hum. Genet. 2005, 77(5):685-693.
28. Meeus B., Nuytemans K., Crosiers D., Engelborghs S., Pals P., Pickut B., Peeters K., Mattheijssens M., Corsmit E., Cras P., De Deyn P., Theuns J., Van Broeckhoven C. GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population. Neurobiol. Aging 2009, 10.1016/j.neurobiolaging.2009.02.016.
29. Mori H., Miyazaki Y., Morita T., Nitta H., Mishina M. Different spatio-temporal expressions of three otx homeoprotein transcripts during zebrafish embryogenesis. Brain Res. Mol. Brain Res. 1994, 27(2):221-231.
30. Nasevicius A., Ekker S. Effective targeted gene 'knockdown' in zebrafish. Nat. Genet. 2000, 26(2):216-220.
31. Nichols W., Kissell D., Pankratz N., Pauciulo M., Elsaesser V., Clark K., Halter C., Rudolph A., Wojcieszek J., Pfeiffer R., Foroud T. Variation in GIGYF2 is not associated with Parkinson disease. Neurology 2009, 72(22):1886-1892.
32. Olanow C., Stern M., Sethi K. The scientific and clinical basis for the treatment of Parkinson disease (2009). Neurology 2009, 72(21 Suppl. 4):S1-S136.
33. Paisán-Ruíz C., Jain S., Evans E., Gilks W., Simón J., van der Brug M., López de Munain A., Aparicio S., Gil A., Khan N., Johnson J., Martinez J., Nicholl D., Carrera I., Pena A., de Silva R., Lees A., Martí-Massó J., Pérez-Tur J., Wood N., Singleton A. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 44(4):595-600.
34. Pankratz N., Nichols W., Uniacke S., Halter C., Murrell J., Rudolph A., Shults C., Conneally P., Foroud T. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum. Mol. Genet. 2003, 12(20):2599-2608.
35. Pankratz N., Nichols W., Uniacke S., Halter C., Rudolph A., Shults C., Conneally P., Foroud T. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am. J. Hum. Genet. 2002, 71(1):124-135.
36. Pankratz N., Nichols W., Uniacke S., Halter C., Rudolph A., Shults C., Conneally P., Foroud T. Significant linkage of Parkinson disease to chromosome 2q36-37. Am. J. Hum. Genet. 2003, 72(4):1053-1057.
37. Panula P., Sallinen V., Sundvik M., Kolehmainen J., Torkko V., Tiittula A., Moshnyakov M., Podlasz P. Modulatory neurotransmitter systems and behavior: towards zebrafish models of neurodegenerative diseases. Zebrafish 2006, 3(2):235-247.
38. Pistocchi A., Gaudenzi G., Carra S., Bresciani E., Del Giacco L., Cotelli F. Crucial role of zebrafish prox1 in hypothalamic catecholaminergic neurons development. BMC Dev. Biol. 2008, 8:27.
39. Polymeropoulos M., Lavedan C., Leroy E., Ide S., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W., Lazzarini A., Duvoisin R., Di Iorio G., Golbe L., Nussbaum R. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997, 276(5321):2045-2047.
40. Prestel J., Sharma M., Leitner P., Zimprich A., Vaughan J., Dürr A., Bonifati V., De Michele G., Hanagasi H., Farrer M., Hofer A., Asmus F., Volpe G., Meco G., Brice A., Wood N., Müller-Myhsok B., Gasser T. PARK11 is not linked with Parkinson's disease in European families. Eur. J. Hum. Genet. 2005, 13(2):193-197.
41. Rink E., Wullimann M. The teleostean (zebrafish) dopaminergic system ascending to the subpallium (striatum) is located in the basal diencephalon (posterior tuberculum). Brain Res. 2001, 889(1-2):316-330.
42. Sallinen V., Torkko V., Sundvik M., Reenilä I., Khrustalyov D., Kaslin J., Panula P. MPTP and MPP+ target specific aminergic cell populations in larval zebrafish. J. Neurochem. 2009, 108(3):719-731.
43. Simeone A. Otx1 and Otx2 in the development and evolution of the mammalian brain. EMBO J. 1998, 17(23):6790-6798.
44. Sironi F., Primignani P., Zini M., Tunesi S., Ruffmann C., Ricca S., Brambilla T., Antonini A., Tesei S., Canesi M., Zecchinelli A., Mariani C., Meucci N., Sacilotto G., Cilia R., Isaias I., Garavaglia B., Ghezzi D., Travi M., Decarli A., Coviello D., Pezzoli G., Goldwurm S. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat. Disord. 2008, 14(4):326-333.
45. Sutherland G., Siebert G., Newman J., Silburn P., Boyle R., O'Sullivan J., Mellick G. Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease. Mov. Disord. 2009, 24(3):449-452.
46. Tan E., Lin C., Tai C., Tan L., Chen M., Li R., Lim H., Pavanni R., Yuen Y., Prakash K., Zhao Y., Wu R. Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations. Hum. Genet. 2009, 10.1007/s00439-009-0678-x.
47. Taylor C. Mutation scanning using high-resolution melting. Biochem. Soc. Trans. 2009, 37(Pt 2):433-437.
48. Thisse C., Thisse B., Halpern M., Postlethwait J. Goosecoid expression in neurectoderm and mesendoderm is disrupted in zebrafish cyclops gastrulas. Dev. Biol. 1994, 164(2):420-429.
49. Thisse C., Thisse B., Schilling T., Postlethwait J. Structure of the zebrafish snail1 gene and its expression in wild-type, spadetail and no tail mutant embryos. Development 1993, 119(4):1203-1215.
50. Valente E., Abou-Sleiman P., Caputo V., Muqit M., Harvey K., Gispert S., Ali Z., Del Turco D., Bentivoglio A., Healy D., Albanese A., Nussbaum R., González-Maldonado R., Deller T., Salvi S., Cortelli P., Gilks W., Latchman D., Harvey R., Dallapiccola B., Auburger G., Wood N. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004, 304(5674):1158-1160.
51. Vilariño-Güell C., Ross O., Farrer M. Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy. Mov. Disord. 2009.
52. Zimprich A., Schulte C., Reinthaler E., Haubenberger D., Balzar J., Lichtner P., El Tawil S., Edris S., Foki T., Pirker W., Katzenschlager R., Daniel G., Brücke T., Auff E., Gasser T. PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat. Disord. 2009, 15(7):532-534.