The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia

Neural Regeneration Research

Volumn 9, Issue 10, 2014, Pages 1068-1074

  Huang, Jinxiang ^a   Lin, Aiyu ^b   Dong, Haiyan ^b   Wang, Chaodong ^b  

^a SECOND MILITARY MEDICAL UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Gene polymorphism; Mutation; Nerve regeneration; Neural regeneration; NSFC grant; Single nucleotide polymorphism; Spinocerebellar ataxia; 2 glutamate receptor

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; GENE; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GLUTAMATE RECEPTOR DELTA 2 GENE; HETEROZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; SPONTANEOUS MUTATION;

EID: 84902110638     PISSN: 16735374     EISSN: 18767958     Source Type: Journal    
DOI: 10.4103/1673-5374.133173     Document Type: Article

References (27)

1. Araki K, Meguro H, Kushiya E, Takayama C, Inoue Y, Mishina M (1993) Selective expression of the glutamate receptor channel d2 subunit in cerebellar Purkinje cells. Biochem Biophys Res Commun 197:1267-1276.
2. Armstrong CL, Duffin CA, McFarland R, Vogel MW (2011) Mechanisms of compartmental Purkinje cell death and survival in the Lurcher mutant mouse. Cerebellum 10:504-514.
3. David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70.
4. Davoren J, Vanek D, Konjhodzic R, Crews J, Huffine E, Parsons TJ (2007) Highly effective DNA extraction method for nuclear short tandem repeat testing of skeletal remains from mass graves. Croat Med J 48:478-485.
5. Fukuoka T, Takeda H, Ohe Y, Deguchi I, Takahashi Y, Tanahashi N (2012) Anti-glutamate receptor d2 antibody-positive migrating focal encephalitis. Clin Neurol Neurosurg 114:1351-1354.
6. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291.
7. Kakegawa W, Miyoshi Y, Hamase K, Matsuda S, Matsuda K, Kohda K, Emi K, Motohashi J, Konno R, Zaitsu K, Yuzaki M (2011) D-Serine regulates cerebellar LTD and motor coordination through the [delta] 2 glutamate receptor. Nat Neurosci 14:603-611.
8. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1. Nat Genet 8:221.
9. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13.
10. Kuroyanagi T, Yokoyama M, Hirano T (2009) Postsynaptic glutamate receptor d family contributes to presynaptic terminal differentiation and establishment of synaptic transmission. Proc Natl Acad Sci U S A 106:4912-4916.
11. Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY (2000) Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 3:157-163.
12. Mandolesi G, Cesa R, Autuori E, Strata P (2009) An orphan ionotropic glutamate receptor: the delta2 subunit. Neuroscience 158:67-77.
13. Matsumoto H, Okabe S, Hirakawa-Yamada M, Takahashi Y, Satoh N, Igeta Y, Hashida H (2012) Steroid-responsive focal epilepsy with focal dystonia accompanied by glutamate receptor delta2 antibody. J Neuroimmunol 249:101-104.
14. Motohashi J, Kakegawa W, Yuzaki M (2007) Ho15J: a new hotfoot allele in a hot spot in the gene encoding the delta2 glutamate receptor. Brain Res 1140:153-160.
15. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18.
16. Orr H (2012) Cell biology of spinocerebellar ataxia. J Cell Biol 197:167-177.
17. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226.
18. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276.
19. Robinson KO, Petersen AM, Morrison SN, Elso CM, Stubbs L (2005) Two reciprocal translocations provide new clues to the high mutability of the Grid2 locus. Mamm Genome 16:32-40.
20. Rossi F, Borsello T (1993) Ectopic Purkinje cells in the adult rat: olivary innervation and different capabilities of migration and development after grafting. J Comp Neurol 337:70-82.
21. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, et al. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277-284.
22. Selimi F, Lohof AM, Heitz S, Lalouette A, Jarvis CI, Bailly Y, Mariani J (2003) Lurcher GRID2-induced death and depolarization can be dissociated in cerebellar Purkinje cells. Neuron 37:813-819.
23. Wang Y, Matsuda S, Drews V, Torashima T, Meisler MH, Yuzaki M (2003) A hot spot for hotfoot mutations in the gene encoding the d2 glutamate receptor. Eur J Neurosci 17:1581-1590.
24. Yamasaki M, Miyazaki T, Azechi H, Abe M, Natsume R, Hagiwara T, Aiba A, Mishina M, Sakimura K, Watanabe M (2011) Glutamate receptor d2 is essential for input pathway-dependent regulation of synaptic AMPAR contents in cerebellar Purkinje cells. J Neurosci 31:3362-3374.
25. Zanjani HS, McFarland R, Cavelier P, Blokhin A, Gautheron V, Levenes C, Bambrick LL, Mariani J, Vogel MW (2009) Death and survival of heterozygous Lurcher Purkinje cells in vitro. Dev Neurobiol 69:505-517.
26. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69.
27. Zuo J, De Jager PL, Takahashi KA, Jiang W, Linden DJ, Heintz N (1997) Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene. Nature 388:769-773.