Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development

PLoS ONE

Volumn 6, Issue 7, 2011, Pages

  Liu, Wanyang ^a   Morito, Daisuke ^b   Takashima, Seiji ^c   Mineharu, Yohei ^a   Kobayashi, Hatasu ^a   Hitomi, Toshiaki ^a   Hashikata, Hirokuni ^a   Matsuura, Norio ^a   Yamazaki, Satoru ^d   Toyoda, Atsushi ^e   Kikuta, Ken ichiro ^a   Takagi, Yasushi ^a   Harada, Kouji H ^a   Fujiyama, Asao ^e,f   Herzig, Roman ^g   Krischek, Boris ^h   Zou, Liping ⁱ   Kim, Jeong Eun ^j   Kitakaze, Masafumi ^d   Miyamoto, Susumu ^a   Nagata, Kazuhiro ^b   Hashimoto, Nobuo ^a,d   Koizumi, Akio ^a   more..

^a KYOTO UNIVERSITY   (Japan)

^b KYOTO SANGYO UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^e NATIONAL INSTITUTE OF GENETICS   (Japan)

^f NATIONAL INSTITUTE OF INFORMATICS   (Japan)

^g UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^h UNIVERSITY OF TÜBINGEN   (Germany)

ⁱ CHINESE PLA GENERAL HOSPITAL   (China)

^j Seoul National University College of Medicine   (South Korea)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RING FINGER PROTEIN; RING FINGER PROTEIN 213; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; RNF213 PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MOYAMOYA DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN FUNCTION; RING FINGER PROTEIN 213 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; UBIQUITINATION; ZEBRA FISH; 3' UNTRANSLATED REGION; ALLELE; ANIMAL; BLOOD VESSEL; CASE CONTROL STUDY; CELL STRAIN HEK293; COPY NUMBER VARIATION; ETHNOLOGY; EXOME; EXON; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC PREDISPOSITION; GENETICS; HELA CELL; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; OPEN READING FRAME; PATHOPHYSIOLOGY; SEQUENCE HOMOLOGY;

DANIO RERIO;

3' UNTRANSLATED REGIONS; ADULT; ALLELES; ANIMALS; BASE SEQUENCE; BLOOD VESSELS; CASE-CONTROL STUDIES; CLONING, MOLECULAR; DNA COPY NUMBER VARIATIONS; DNA, COMPLEMENTARY; EXOME; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HELA CELLS; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; MOYAMOYA DISEASE; OPEN READING FRAMES; SEQUENCE HOMOLOGY, AMINO ACID; UBIQUITIN-PROTEIN LIGASES; ZEBRAFISH;

EID: 79960608326     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022542     Document Type: Article

References (49)

1. Takeuchi K, Shimizu K, (1957) Hypogenesis of bilateral internal carotid arteries. Brain Nerve 9: 37-43.
2. Suzuki J, Takaku A, (1969) Cerebrovascular "moyamoya" disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20: 288-299.
3. Goto Y, Yonekawa Y, (1992) Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo) 32: 883-886.
4. Kuroda S, Houkin K, (2008) Moyamoya disease: current concepts and future perspectives. Lancet Neurol 7: 1056-1066.
5. Miao W, Zhao PL, Zhang YS, Liu HY, Chang Y, et al. (2010) Epidemiological and clinical features of Moyamoya disease in Nanjing, China. Clin Neurol Neurosurg 112: 199-203.
6. Amlie-Lefond C, Bernard TJ, Sebire G, Friedman NR, Heyer GL, et al. (2009) Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study. Circulation 119: 1417-1423.
7. Fukui M, Kono S, Sueishi K, Ikezaki K, (2000) Moyamoya disease. Neuropathology 20 (Suppl): S61-64.
8. Takebayashi S, Matsuo K, Kaneko M, (1984) Ultrastructural studies of cerebral arteries and collateral vessels in moyamoya disease. Stroke 15: 728-732.
9. Takagi Y, Kikuta K, Sadamasa N, Nozaki K, Hashimoto N, (2006) Caspase-3-dependent apoptosis in middle cerebral arteries in patients with moyamoya disease. Neurosurgery 59: 894-900.
10. Kim SK, Yoo JI, Cho BK, Hong SJ, Kim YK, et al. (2003) Elevation of CRABP-I in the cerebrospinal fluid of patients with Moyamoya disease. Stroke 34: 2835-2841.
11. Malek AM, Connors S, Robertson RL, Folkman J, Scott RM, (1997) Elevation of cerebrospinal fluid levels of basic fibroblast growth factor in moyamoya and central nervous system disorders. Pediatr Neurosurg 27: 182-189.
12. Nanba R, Kuroda S, Ishikawa T, Houkin K, Iwasaki Y, (2004) Increased expression of hepatocyte growth factor in cerebrospinal fluid and intracranial artery in moyamoya disease. Stroke 35: 2837-2842.
13. Soriano SG, Cowan DB, Proctor MR, Scott RM, (2002) Levels of soluble adhesion molecules are elevated in the cerebrospinal fluid of children with moyamoya syndrome. Neurosurgery 50: 544-549.
14. Takahashi A, Sawamura Y, Houkin K, Kamiyama H, Abe H, (1993) The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. Neurosci Lett 160: 214-216.
15. Yoshimoto T, Houkin K, Takahashi A, Abe H, (1996) Angiogenic factors in moyamoya disease. Stroke 27: 2160-2165.
16. Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T, (1999) Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64: 533-537.
17. Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M, (2000) Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15: 179-182.
18. Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, et al. (2004) A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 49: 278-281.
19. Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, et al. (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31: 930-935.
20. Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, et al. (2008) Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 70: 2357-2363.
21. Liu W, Hashikata H, Inoue K, Matsuura N, Mineharu Y, et al. (2010) A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians. Environ Health Prev Med 15: 94-104.
22. Fukui M, (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('moyamoya' disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 99 (Suppl 2): S238-240.
23. Hojo M, Hoshimaru M, Miyamoto S, Taki W, Nagata I, et al. (1998) Role of transforming growth factor-beta1 in the pathogenesis of moyamoya disease. J Neurosurg 89: 623-629.
24. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES, (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58: 1347-1363.
25. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Miyamoto S, et al. (2003) Absence of linkage of familial intracranial aneurysms to 7q11 in highly aggregated Japanese families. Stroke 34: 892-900.
26. Morito D, Hirao K, Oda Y, Hosokawa N, Tokunaga F, et al. (2008) Gp78 cooperates with RMA1 in endoplasmic reticulum-associated degradation of CFTRDeltaF508. Mol Biol Cell 19: 1328-1336.
27. Seguchi O, Takashima S, Yamazaki S, Asakura M, Asano Y, et al. (2007) A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. J Clin Invest 117: 2812-2824.
28. Lawson ND, Weinstein BM, (2002) In vivo imaging of embryonic vascular development using transgenic zebrafish. Dev Biol 248: 307-318.
29. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276.
30. Coe BP, Ylstra B, Carvalho B, Meijer GA, Macaulay C, et al. (2007) Resolving the resolution of array CGH. Genomics 89: 647-653.
31. Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S, et al. (1999) RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. Proc Natl Acad Sci U S A 96: 11364-11369.
32. Walker JE, Saraste M, Runswick MJ, Gay NJ, (1982) Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold. EMBO J 1: 945-951.
33. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, et al. (2011) A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56: 34-40.
34. Mineharu Y, Takenaka K, Yamakawa H, Inoue K, Ikeda H, et al. (2006) Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry 77: 1025-1029.
35. Isogai S, Horiguchi M, Weinstein BM, (2001) The vascular anatomy of the developing zebrafish: an atlas of embryonic and early larval development. Dev Biol 230: 278-301.
36. Torres-Vazquez J, Gitler AD, Fraser SD, Berk JD, Van NP, et al. (2004) Semaphorin-plexin signaling guides patterning of the developing vasculature. Dev Cell 7: 117-123.
37. Alvarez Y, Cederlund ML, Cottell DC, Bill BR, Ekker SC, et al. (2007) Genetic determinants of hyaloid and retinal vasculature in zebrafish. BMC Dev Biol 7: 114.
38. Takagi Y, Kikuta K, Nozaki K, Fujimoto M, Hayashi J, et al. (2007) Expression of hypoxia-inducing factor-1 alpha and endoglin in intimal hyperplasia of the middle cerebral artery of patients with Moyamoya disease. Neurosurgery 60: 338-345.
39. El Ramahi KM, Al Rayes HM, (2000) Systemic lupus erythematosus associated with moyamoya syndrome. Lupus 9: 632-636.
40. Ogawa K, Nagahiro S, Arakaki R, Ishimaru N, Kobayashi M, et al. (2003) Anti-alpha-fodrin autoantibodies in Moyamoya disease. Stroke 34: e244-246.
41. Czartoski T, Hallam D, Lacy JM, Chun MR, Becker K, (2005) Postinfectious vasculopathy with evolution to moyamoya syndrome. J Neurol Neurosurg Psychiatry 76: 256-259.
42. Sharfstein SR, Ahmed S, Islam MQ, Najjar MI, Ratushny V, (2007) Case of moyamoya disease in a patient with advanced acquired immunodeficiency syndrome. J Stroke Cerebrovasc Dis 16: 268-272.
43. Somarajan A, Ashalatha R, Syam K, (2005) Moya Moya disease: an unusual clinical presentation. J Assoc Physicians India 53: 49-51.
44. Tanigawara T, Yamada H, Sakai N, Andoh T, Deguchi K, et al. (1997) Studies on cytomegalovirus and Epstein-Barr virus infection in moyamoya disease. Clin Neurol Neurosurg 99 (Suppl): S225-228.
45. Ueno M, Oka A, Koeda T, Okamoto R, Takeshita K, (2002) Unilateral occlusion of the middle cerebral artery after varicella-zoster virus infection. Brain Dev 24: 106-108.
46. Bitzer M, Topka H, (1995) Progressive cerebral occlusive disease after radiation therapy. Stroke 26: 131-136.
47. Bauersachs S, Ulbrich SE, Gross K, Schmidt SE, Meyer HH, et al. (2006) Embryo-induced transcriptome changes in bovine endometrium reveal species-specific and common molecular markers of uterine receptivity. Reproduction 132: 319-331.
48. Zhang S, Kim CC, Batra S, McKerrow JH, Loke P, (2010) Delineation of diverse macrophage activation programs in response to intracellular parasites and cytokines. PLoS Negl Trop Dis 4: e648.
49. Phillips JA 3rd, Poling JS, Phillips CA, Stanton KC, Austin ED, et al. (2008) Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med 10: 359-365.