Genetic investigation of the genes responsible for hereditary disorders of Japanese Black cattle and its functional analysis

• Project/Area Number: 20248029
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Applied animal science
• Research Institution: Okayama University
• Principal Investigator: KUNIEDA Tetsuo 岡山大学, 大学院・自然科学研究科, 教授 (80178011)
• Co-Investigator(Kenkyū-buntansha): TSUJI Takehito 岡山大学, 大学院・自然科学研究科, 准教授 (90314682)
• Co-Investigator(Renkei-kenkyūsha): UCHIDA Kazuyuki 東京大学, 大学院・農学生命科学研究科, 准教授 (10223554) ; MORITOMO Yasuo 東海大学, 農学部, 教授 (70148972) ; YAMATO Osamu 鹿児島大学, 農学部, 教授 (80261337) ; WATANABE Daisaku 北里大学, 獣医学部, 准教授
• Project Period (FY): 2008 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥47,710,000 (Direct Cost: ¥36,700,000、Indirect Cost: ¥11,010,000); Fiscal Year 2010: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000); Fiscal Year 2009: ¥15,080,000 (Direct Cost: ¥11,600,000、Indirect Cost: ¥3,480,000); Fiscal Year 2008: ¥21,970,000 (Direct Cost: ¥16,900,000、Indirect Cost: ¥5,070,000)
• Keywords: 育種 / 和牛 / 遺伝性疾患 / 遺伝子診断 / 黒毛和種 / ポジショナルクローニング / 連鎖解析 / 突然変異 / ウシ / 家畜 / 筋形成 / マイクロサテライトマーカー

Research Abstract

We have attempted to identify the gene responsible for hereditary disorders of Japanese Black cattle and develop the genetic diagnosis systems to detect the mutations. Consequently, we have revealed that a nonsense mutation of the GFRA1 gene is responsible for forelimb-girdle muscular anomaly and developed the genetic diagnosis systems for this disorder by PCR-RFLP method. For other disorders including short mandible and renal agenesis, we have collected samples of affected animals and performed linkage analysis using these samples. As a result, the locus for short mandible and renal agenesis was mapped on a particular region of bovine chromosome. These finding can be used to develop genetic diagnosis system for this disorder.

Research Products

• [Journal Article] Expression analysis of MIF4CD in the rat testis (2011)
  • Author(s): Okada, K Kimura, M., Baba, T., Kunieda, T., Nakai, M., Kikuchi, K., Kaneko, H., Noguchi, J.
  • Journal Title: J.Reprod.Dev. Volume: 57 Pages: 256-251
  • Peer Reviewed
• [Journal Article] A missense mutation of the Dhh gene is associated with male pseudohermaphrodite of rats showing impaired Leydig cell development (2011)
  • Author(s): Kawai, Y., Noguchi, J., Akiyama, K., Takeno, Y., Fujiwara, Y., Kajita, S., Tsuji, T., Kikuchi, K., Kaneko, K.
  • Journal Title: Reproduction Volume: 141 Pages: 1-9
  • Peer Reviewed
• [Journal Article] 見島牛における遺伝性疾患、毛色、経済形質に関わる遺伝子座の対立遺伝子の分布 (2010)
  • Author(s): 米田一裕、渡辺望、国枝哲夫
  • Journal Title: 動物遺伝育種学研究 Volume: 38 Pages: 13-19
  • NAID: 10026420547
• [Journal Article] Gastrointestinal Tract Disorder in Natriuretic Peptide Receptor B Gene Mutant Mice (2010)
  • Author(s): Sogawa, C., Abe, A., Tsuji T., Koizumi M., Saga, T., Kunieda T.
  • Journal Title: Am.J.Pathol. Volume: 177 Pages: 822-828
  • Peer Reviewed
• [Journal Article] ウズラのためのコチニール残渣の栄養価 (2010)
  • Author(s): 崔勇権、佐藤勝紀、国枝哲夫、及川卓郎、市隆人
  • Journal Title: 日本家禽学会誌 Volume: 47
  • NAID: 10026882959
  • Peer Reviewed
• [Journal Article] 我が国の飼育環境下にあるチーター(Acinonyx jubatus)集団における遺伝的多様性と血縁関係の解析 (2010)
  • Author(s): 米田一裕, 木下こづえ, 林輝昭, 伊藤修, 大峡芽, 奥田和男, 川上茂久, 谷口敦, 奥田龍太, 石川達也, 佐藤梓, 池辺祐介, 只野亮, 都築政起, 国枝哲夫, 楠比呂志
  • Journal Title: 日本畜産学会報 Volume: 81 Pages: 133-141
  • Peer Reviewed
• [Journal Article] A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle Abbasi AR (2009)
  • Author(s): Khalaj M, Tsuji T, Tanahara M, Uchida K, Sugimoto Y, Kunieda T
  • Journal Title: Genomics Volume: 94 Pages: 55-62
• [Journal Article] A missense mutation(p. Leu2153His) of the factor VIII gene causes cattle haemophilia A (2009)
  • Author(s): Khalaj M, Abbasi AR, Shimojo K, Moritomo Y, Yoneda K, Kunieda T
  • Journal Title: Anim Genet Volume: 40 Pages: 763-765
• [Journal Article] Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storagedisease in Japanese Black cattle (2009)
  • Author(s): Masoudi, A. A., Yamato, O., Yoneda, K., Tsuji, T., Mikami, O., Kunieda, T.
  • Journal Title: Anim Sci J Volume: 80 Pages: 611-615
• [Journal Article] A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle (2009)
  • Author(s): Abbasi AR, Khalaj M, Tanahara M, Uchida K, Sugimoto Y, Kunieda T.
  • Journal Title: Genomics Volume: 94 Pages: 55-62
  • Peer Reviewed
• [Journal Article] A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A (2009)
  • Author(s): Khalaj M, Abbasi AR, Shimojo K, Moritomo Y, Yoneda K, Kunieda T.
  • Journal Title: Anim Genet. Volume: 40 Pages: 763-765
  • Peer Reviewed
• [Journal Article] 94. Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle. (2009)
  • Author(s): Masoudi AA, Yamato O, Yoneda K, Tsuji T, Mikami O, Kunieda T.
  • Journal Title: Anim Sci J Volume: 80 Pages: 611-615
  • Peer Reviewed
• [Journal Article] Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese Black cattle on bovine chromosome 26 (2008)
  • Author(s): Masoudi, A. A., Uchida, K., Yokouchi, K., Ohwada, K., Abbasi, A. R., Tsuji, T., Watanabe, T., Hirano, T., Sugimoto, Y., and Kunieda, T.
  • Journal Title: Anim Genet Volume: 39 Pages: 46-50
• [Journal Article] Clinical and Pathological Aspects of Hemophilia A in Japanese Brown Cattle. (2008)
  • Author(s): Moritomo, Y., Shimojo, K., Miyadera, K., Khalaj, M., Asano, Kunieda, T., Ogawa, H.
  • Journal Title: J Vet Med Sci. Volume: 70 Pages: 293-296
  • NAID: 110006633677
• [Journal Article] Pedigree Analysis of Factor XI Deficiency in Japanese Black Cattle. (2008)
  • Author(s): Ohba, Y., Yakasu, M., Nishii, N., Takeda, E., Maeda, S., Kunieda, T., Kitagawa, H.
  • Journal Title: J Vet Med Sci. Volume: 70 Pages: 297-299
  • NAID: 110006633678
• [Journal Article] Linkage mapping of the locus responsible for forelimb-girdle muscularanomaly of Japanese Black cattle on bovine chromosome 26. (2008)
  • Author(s): Masoudi. A. A., Uchida, K., Kunieda, T., et al
  • Journal Title: Anim Genet 39 Pages: 46-50
  • Peer Reviewed
• [Journal Article] Clinical and Pathological Aspects of Hemophilia A in Japanese Brown Cattle. (2008)
  • Author(s): Moritomo. Y., Shimojo, K., Kunieda, T., Ogawa, H., et al.
  • Journal Title: J Vet Med Sci. 70 Pages: 293-296
  • NAID: 110006633677
  • Peer Reviewed
• [Journal Article] Pedigree Analysis of Factor XI Deficiency in Japanese Black Cattle. (2008)
  • Author(s): Ohba, Y., Yakasu, M., Nishii, N. . Kunieda, T., et al
  • Journal Title: J Vet Med Sci. 70 Pages: 297-299
  • NAID: 110006633678
  • Peer Reviewed
• [Presentation] 黒毛和種牛に発生する前肢帯筋異常症の原因遺伝子の同定と遺伝子診断法の確立 (2011)
  • Author(s): 秋山耕陽、平野貴、Ali Akbar Masoudi、内田和幸、辻岳人、熊谷多妙子、大和田孝二、杉本喜憲、国枝哲夫
  • Organizer: 日本動物遺伝育種学会第12回大会
  • Place of Presentation: 東広島
  • Year and Date: 2011-11-19
• [Presentation] ラット精巣におけるMIF4GDの発現解析 (2010)
  • Author(s): 岡田健三, 木村正紀, 馬場忠, 国枝哲夫, 野口純子
  • Organizer: 第33回分子生物学会年会
  • Place of Presentation: 神戸
  • Year and Date: 2010-12-07
• [Presentation] 最近明らかにされた黒毛和種の遺伝性疾患とその検査法の確立 (2010)
  • Author(s): 国枝哲夫
  • Organizer: 牛の遺伝性疾患シンポジウム
  • Place of Presentation: 家畜改良センター(福島県)(招待講演)
  • Year and Date: 2010-10-07
• [Presentation] Estimates Of Genetic Parameters And Direct And Maternal Genetic Relationships Of Body Measurements At Early Growth stage In Japanese Black Cattle (2010)
  • Author(s): T.Munim, T.Oikawa, M.A.Hoque, T.Kunieda
  • Organizer: 日本動物遺伝育種学会第11回大会
  • Place of Presentation: 家畜改良センター(福島県)
  • Year and Date: 2010-10-06
• [Presentation] The role of Syntaxin 2/Epimorphin (Stx2/Epim) in progression of meiosis during spermatogenesis (2010)
  • Author(s): Y.Fujiwara, K.Akiyama, Y.Asano, T.Tsuji, J.Noguchi, T.Kunieda
  • Organizer: Society for the Study of Reproduction 43rd Annual Meeting
  • Place of Presentation: Milwaukee
  • Year and Date: 2010-07-30
• [Presentation] Cloning of candidate genes for TMEM48 binding proteins, which could be involved in gametegenesis (2010)
  • Author(s): S.Kajita, K.Akiyama, M.Hirose, N Ogonuki, A.Ogura, T.Tsuji, T.Kunieda
  • Organizer: Society tor the Study of Reproduction 43rd Annual Meeting
  • Place of Presentation: Milwaukee
  • Year and Date: 2010-07-30
• [Presentation] Stx2/Epim遺伝子の突然変異により精子形成に異常を呈するrepro34マウスの解析 (2010)
  • Author(s): 藤原靖浩、秋山耕陽、浅野友香、井上貴美子、越後貫成実、小倉淳郎、辻岳人、野口純子、国枝哲夫
  • Organizer: 第57回日本実験動物学会総会
  • Place of Presentation: 京都テルサ
  • Year and Date: 2010-05-12
• [Presentation] マウス精巣においてTMEM48/NDC1と相互作用するタンパク質の探索 (2010)
  • Author(s): 梶田晋平、秋山耕陽、辻岳人、国枝哲夫
  • Organizer: 第57回日本実験動物学会総会
  • Place of Presentation: 京都テルサ
  • Year and Date: 2010-05-12
• [Presentation] 黒毛和種における血液凝固XI因子欠乏症 (2009)
  • Author(s): 小林直彦、松橋珠子、坂口慎一、加藤勉、国枝哲夫
  • Organizer: 日本動物遺伝育種学会第10回大会
  • Place of Presentation: 前橋
  • Year and Date: 2009-11-09
• [Presentation] 148)褐毛和種にみられた血液凝固不全症(血友病A)におけるF8遺伝子の変異 (2009)
  • Author(s): Khalaj Maryam、下城研一、宮寺恵子、国枝哲夫, 他
  • Organizer: 日本動物遺伝育種学会第10回大会
  • Place of Presentation: 前橋
  • Year and Date: 2009-11-09
• [Presentation] ウシ疾病関連遺伝子、抗病性関連遺伝子の多様性解析 (2009)
  • Author(s): 金田真、笹崎晋史、国枝哲夫、万年英之
  • Organizer: 日本畜産学第111回大会
  • Place of Presentation: 沖縄
  • Year and Date: 2009-09-28
• [Presentation] ウシ疾病関連遺伝子、抗病性関連遺伝子の多様性解析 (2009)
  • Author(s): 金田真、笹崎晋史、国枝哲夫、万年英之
  • Organizer: 日本畜産学会第111回大会
  • Place of Presentation: 沖縄
• [Presentation] 見島牛における和牛の諸形質に関連する遺伝子変異の解析 (2009)
  • Author(s): 渡辺望、辻岳人、国枝哲夫
  • Organizer: 日本動物遺伝育種学会第10回大会
  • Place of Presentation: 前橋
• [Presentation] 黒毛和種における血液凝固第XI因子欠乏症 (2009)
  • Author(s): 小林直彦、松橋珠子、坂口慎一、加藤勉、国枝哲夫
  • Organizer: 日本動物遺伝育種学会第10回大会
  • Place of Presentation: 前橋
• [Presentation] 褐毛和種にみられた血液凝固不全症(血友病A)におけるF8遺伝子の変異 (2009)
  • Author(s): Khalaj Maryam、下城研一、宮寺恵子、Abdol Rahim Abbasi、米田一裕、小川博之、森友靖生、国枝哲夫
  • Organizer: 日本動物遺伝育種学会第10回大会
  • Place of Presentation: 前橋
• [Presentation] 精子形成に特異的なSpata4遺伝子の機能の解析 (2008)
  • Author(s): 森山雄介, 桜庭喜行, 権藤洋一, 野口純子, 辻岳人, 国枝哲夫
  • Organizer: 日本動物遺伝育種学会第9回大会
  • Place of Presentation: 岡山
  • Year and Date: 2008-11-29