Genetic disorders caused by the aberration of TGF signaling pathway and extracellular matrix proteins

2010 Fiscal Year Final Research Report

• Project/Area Number: 20590331
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Nagasaki University
• Principal Investigator: KINOSHITA Akira Nagasaki University, 大学院・医歯薬学総合研究科, 助教 (60372778)
• Project Period (FY): 2008 – 2010
• Keywords: Transforming Growth Factorβ1 (TGFB1) / TGF受容体2型(TGFBR2) / モデルマウス / ES細胞 / 細胞外マトリックス

Research Abstract

We previously reported that mutations in TGFB1 and TGFBR2 caused autosomal dominant disorders (Cammurati-Engelmann disease and Marfansyndrome type II). To reveal the relationship between unregulated production/adoption of extracellular matrix proteins andaberrant TGF signaling, I tried to establish model mice harboring mutant allelesofTgfb1orTgfbr2. However, all of chimera mice were infertile, and I could not accomplish this investigation program.

Research Products

• [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families. (2011)
  • Author(s): Ono S, Yoshiura KI, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
  • Journal Title: MovDisord. (Epub ahead of print).
• [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. (2011)
  • Author(s): Miura K, Higashi jima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura KI, Masuzaki H
  • Journal Title: J Hum Genet. (Epub ahead of print).
• [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women. (2011)
  • Author(s): Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
  • Journal Title: J Hum Genet. (Epub ahead of print).
• [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma. (2010)
  • Author(s): Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
  • Journal Title: Clin Chem. 56(11) Pages: 1767-1771
• [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma. (2010)
  • Author(s): Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
  • Journal Title: PrenatDiagn. 30(9) Pages: 849-861
• [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array. (2010)
  • Author(s): Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura KI
  • Journal Title: Eur J Med Genet. 53(5) Pages: 244-249
• [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome. (2010)
  • Author(s): Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T
  • Journal Title: J Hum Genet. 55(3) Pages: 142-146
• [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12. (2010)
  • Author(s): Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
  • Journal Title: J Hum Genet. 55(2) Pages: 124-126
• [Journal Article] Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium. (2009)
  • Author(s): Super Science High School Consortium.
  • Journal Title: J Hum Genet 54(9) Pages: 499-503
• [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. (2009)
  • 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
  • Journal Title: J Hum Genet. 54(5) Pages: 304-309
• [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene. (2009)
  • Author(s): Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T
  • Journal Title: Gene. 432(1-2) Pages: 97-101
• [Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA. (2008)
  • Author(s): Nakashima M, Tsuda M, Kinoshita A, Kishino T, Kondo S, Shimokawa O, Niikawa N, Yoshiura K
  • Journal Title: ClinChemi. 54(10) Pages: 1746-1748
• [Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. (2008)
  • Author(s): Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N
  • Journal Title: J Med Genet. 45(7) Pages: 479-480
• [Journal Article] TGFシグナル異常による骨・軟骨疾患-単一遺伝病からありふれた疾患まで医学のあゆみ
  • Author(s): 木下晃
  • Journal Title: 234(10) Pages: 987-992
• [Presentation] HELLP症候群と関連した胎盤特異的microRNAの網羅的解析 (2010)
  • Author(s): 三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] 唇顎口蓋裂のGenome-wide associationstudy (2010)
  • Author(s): 引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 吉田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] SFTPC遺伝子変異を認めた家族制肺線維証の一家系 (2010)
  • Author(s): 小野慎治, 田中健之, 木下晃, 石田雅之, 森本浩之輔, 吉浦孝一郎
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] 子宮内膜癌特異的microRNAの網羅的スクリーニング (2010)
  • Author(s): 城大空, 三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 増崎雅子, 長谷川ゆり, 木下晃, 吉浦孝一郎, 増崎英明
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] ウイルス感染防御遺伝子のコピー数多型とHPV持続感染に関する検討 (2010)
  • Author(s): 阿部修平, 三浦清徳, 木下晃, 山崎健太郎, 三浦生子, 嶋田貴子, 吉浦孝一郎, 増崎英明
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] 全胞状奇胎に特異的なmicroRNAの網羅的スクリーニング (2010)
  • Author(s): 長谷川ゆり, 三浦清徳, 東島愛, 城大空, 阿部修平, 三浦生子, 増崎雅子, 山崎健太郎, 木下晃, 吉浦孝一郎, 増崎英明
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] 母体血中における胎盤特異的microRNA群の網羅的スクリーニング (2010)
  • Author(s): 東島愛, 三浦清徳, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
  • Organizer: 第55回日本人類遺伝学会
  • Year and Date: 20100000
• [Presentation] 発作性運動誘発性アテトーゼ(PKC)の変異解析 (2009)
  • Author(s): 小野慎治, 菊池妙子, 木下晃, 小澤寛樹, 新川詔夫, 吉浦孝一郎
  • Organizer: 第54回日本人類遺伝学会
  • Year and Date: 20090000
• [Presentation] ヒト疾患モデルとしてのinterferon regulatory factor 6遺伝子改変マウスの表現型解析 (2009)
  • Author(s): 木下晃, Brian C.Schutte, 吉浦孝一郎
  • Organizer: 第16回日本遺伝子診療学会
  • Year and Date: 20090000
• [Remarks] ホームページ等