Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method
Project/Area Number |
21390100
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Human genetics
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Research Institution | Nagasaki University |
Principal Investigator |
YOSHIURA Koichiro 長崎大学, 大学院・医歯薬学総合研究科, 教授 (00304931)
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Co-Investigator(Kenkyū-buntansha) |
TSUJINO Akira 長崎大学, 病院, 講師 (70423639)
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Co-Investigator(Renkei-kenkyūsha) |
KINOSHITA Akira 長崎大学, 大学院・医歯薬学総合研究科, 講師 (60372778)
MISHIMA Hiroyuki 長崎大学, COE研究員 (10513319)
OGI Tomoo 長崎大学, 大学院・医歯薬学総合研究科, 助教 (80508317)
ARIMA Kazuhiko 長崎大学, 大学院・医歯薬学総合研究科, 助教 (30423635)
NIIKAWA Norio 北海道医療大学, 学長 (00111170)
OTA Toru 北海道医療大学, 個体差健康科学研究所, 准教授 (10223835)
IDA Hiroaki 久留米大学, 医学部・内科学講座呼吸器神経膠原病内科部門, 准教授 (60363496)
KANAZAWA Nobuo 和歌山県立医科大学, 医学部・皮膚学講座, 講師 (90343227)
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Project Period (FY) |
2009 – 2011
|
Project Status |
Completed (Fiscal Year 2011)
|
Budget Amount *help |
¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000)
Fiscal Year 2011: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2010: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2009: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
|
Keywords | ゲノム医科学 / 次世代型シーケンサー / エキソンキャプチャー法 / 歌舞伎症候群 / 筋萎縮性側索硬化症 / emulsion PCR / SOLiD / 骨髄異形成症 / 遺伝子座マッピング / 脳動静脈奇形 / 軟口蓋裂 |
Research Abstract |
We aimed to develop the method to enrich the exon capture and to identify the disease gene applying the capture method to next generation sequencer. We identified the genes for Kabuki syndrome, Nakajyo-Nishimua syndrome and UV sensitive syndrome complementation group A.
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Report
(4 results)
Research Products
(95 results)
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[Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred2011
Author(s)
Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K
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Journal Title
Eur Respir J
Volume: 38(4)
Pages: 861-869
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[Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology2011
Author(s)
Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
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Journal Title
J Obstet Gynaecol Res
Volume: 37(11)
Pages: 1666-1670
NAID
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[Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
Author(s)
Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K
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Journal Title
Proc Natl Acad Sci
Volume: 108(36)
Pages: 14914-14919
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[Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome2011
Author(s)
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Lian
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Journal Title
Am J Med Genet A
Volume: 155A(7)
Pages: 1511-1516
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[Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women2011
Author(s)
Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H
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Journal Title
J Hum Genet
Volume: 56(4)
Pages: 313-315
NAID
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[Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders2011
Author(s)
Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H
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Journal Title
J Hum Genet
Volume: 56(4)
Pages: 296-299
NAID
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[Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice2011
Author(s)
Okada I, Hamanoue H., Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusak
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Journal Title
Am J Hum Genet
Volume: 88(1)
Pages: 1-12
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[Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p122010
Author(s)
Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
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Journal Title
J Hum Genet
Volume: 55(2)
Pages: 124-126
Related Report
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[Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010
Author(s)
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
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Journal Title
Nat Genet
Volume: 42(9)
Pages: 790-793
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[Journal Article] Endo I and Shimada H. Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC112010
Author(s)
Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K-i, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T
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Journal Title
Anticancer Res
Volume: 30(12)
Pages: 5189-5194
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[Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia2009
Author(s)
Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J
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Journal Title
Am J Med Genet A
Volume: 149A(4)
Pages: 816-818
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[Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11. 232009
Author(s)
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N
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Journal Title
Am J Med Genet A
Volume: 149A(3)
Pages: 336-342
Related Report
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[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
Author(s)
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
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Journal Title
J Hum Genet
Volume: 54(5)
Pages: 304-309
NAID
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[Journal Article] Earwax, osmidrosis, and breast cancer why does one SNP(538G> A) in the human ABC transporter ABCC11 gene determine earwax type?2009
Author(s)
Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
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Journal Title
FASEB J
Volume: 23(6)
Pages: 2001-2013
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[Presentation]2011
Organizer
第18回出生前診断研究会
Place of Presentation
佐賀大学医学部臨床大講堂,佐賀
Year and Date
2011-10-01
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[Presentation]2010
Organizer
第55回日本人類遺伝学会
Place of Presentation
大宮ソニックシティー,大宮
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[Presentation]2010
Organizer
第34回日本口蓋裂学会総会・学術集会
Place of Presentation
北とぴあ,東京
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[Presentation]2010
Organizer
第106回日本精神神経学会学術総会
Place of Presentation
広島国際会議場,広島
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[Presentation]2010
Organizer
第110回日本外科学会総会
Place of Presentation
名古屋国際会議場,名古屋
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[Presentation]2009
Organizer
第16回日本遺伝子診療学会
Place of Presentation
ホテル札幌ガーデンパレス,札幌
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[Presentation]2009
Organizer
第54回日本人類遺伝学会
Place of Presentation
グランドプリンスホテル高輪,東京
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