役職名		教授
所　属		旭川医科大学教育センター
氏　名		蒔田芳男
専門分野
出身大学（期）		旭川医科大学医学部医学科（9期）、旭川医科大学大学院医学研究科
出身高校		札幌北
国内・国外留学など		神奈川県立こども医療センター遺伝科(シニアレジデント)
所属学会 専門医		日本小児科学会（専門医）、日本人類遺伝学会（評議員、臨床細胞遺伝学認定士、臨床細胞遺伝学指導士、指導医）、日本小児遺伝学会（評議員）、日本遺伝カウンセリング学会（認定臨床遺伝専門医、指導医）、日本小児神経学会、日本未熟児新生児学会、日本先天代謝異常学会、日本医学教育学会 American Society of Human Genetics, Europian Society of Human Genetics
専門詳細		人類遺伝学、先天奇形学、分子細胞遺伝学
研究テーマ・内容		先天奇形症候群の原因遺伝子の解明と診断法の確立 CGHアレイ法を用いた染色体微細欠失症候群の網羅的診断法の開発と先天奇形症候群の新規原因遺伝子の単離
一　言		ハンディキャップをもつ子供たちやその親御さんの応援団なりたいというのが、小児科を選んだ理由です。先天奇形学は、小児科特異的な分野で「目で見て診断する」ことを基本にしています。「目で見て診断する」方法を科学に変換することを目標に人類遺伝学の応用を目指しています。
賞罰		平成13年　第13回日本人類遺伝学会奨励賞 平成13年度　小児・思春期糖尿病研究会研究奨励賞
英文業績 （1997〜2008）		H. Azuma, Y. Makita, A. Araki, A Miyamoto, A. Tsuchida, M. Takahashi, M. Ooshima, A. Okuno.:Evevated interleukin 6 without pleocytosis in cerebrospinal fluid in encephalitis patients. Eur. J. Pediatr 156:507-508 1997. S Takahashi, Y　Makita, N Okamoto, A Miyamoto, J Oki.:L1CAM mutation Japanese family with X-linked hydrocephalus: a study for genetic counseling Brain & Dvelopment 19:55-562(1997) A. Adachi, K. Tachibana, M Masuno, Y. Makita, H. Maesaka, T Okada, K Hizukuri, K. Imaizumi, Y. Kuroki, H. Kurahashi, S Suwa.:Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur. J. Pediatr. 157:34-38(1998) S. Takahashi, Y. Makita, J. Oki, A. Miyamoto, J. Yanagawa, E. Naito, Y. Goto, A. Okuno.:de novo mtDNA mutation nt 8993(T→G) mutaion resulting in Leigh syndrome Am. J. Hum. Genet. 62:717-719(1998) R. Mitamura, K. Yano, N. Suzuki, Y. Ito, Y. Makita, A. Okuno.:Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, and testosterone secretion before the onset of male puberty. J. Clin. Endocrinol. Metab. 84:29-37(1999) S. Ikegawa, M. Masuno, Y. Kumano, A. Okawa, M. Isomura, K. Koyama, K. Okui, Y. Makita, M. Sasaki, U. Kohdama, M. Okuda, H. Koyama, H. Ohashi, H. Tajiri, K. Imaizumi, Y. Nakamura.:Cloning of translocation breakpoints associated with Shwachman syndrome and Identification of a candidate gene. Clin Genet. 55:466-472(1999) Y. Makita, K. Yamada, A. Miyamoto, A. Okuno, N. Niikawa :Kabuki make-up syndrome is not caused by a microdeletion of the van der Woude syndrome critical region at chromosome 1q32-41. Am. J. Med Genet.86: 285-288 (1999) Y. Makita, G. Nishimura, S. Ikegawa, T. Ishii, Y. Ito, A. Okuno.:Intrafamilial Phenotypic Variability in Engelmann Disease (ED): Are the Disease and Ribbing Disease the Same Entity?. Am J Med Genet.91:153-156(2000) M. Ghadami, Y. Makita, K. Yoshida, Y. Fukushima, K. Wakui, S. Ikegawa, K. Yamada, S. Kondo, N. Niikawa, H. Tomita:Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.2-q13.3. Am J Hum Genet 66:143-147(2000) A. Kinoshita, T. Saito, H. Tomita, Y. Makita, K. Yoshida, M. Ghadami, K. Yamada, S. Kondo, S. Ikegawa, G. Nishimura, Y. Fukushima, T. Nakagomi, H. Saito, T. Sugimoto, M. Kamegaya, K. Hisa, J. C. Murray, N. Taniguchi, N. Niikawa and K. Yoshiura :Domain Specific Mutations in the Human Transforming Growth Factor Beta 1 Gene (TGFB1) Result in Camurati-Engelmann Disease. Nature Genetics 26:19-20(2000) R.Mitamura, K. Yano, N Suzuki, Y. Ito, Y Makita, A. Okuno:Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, testosterone, and estradiol serection before the onset of female puberty in short children J. Clin. Endocrinol. Metabol. 85:1074-1080(2000). T. Saito, A. Kinoshita, K Yoshiura, Y. Makita, K. Wakui, K. Honke, N. Niikawa, N Taniguchi:Domain specific mutation of TGF B1 latency-associated peptide cause Camurati-Engelmann disease due to the formation of a constitutively active form of TGF-B1 J Biol Chem 276:11469-11470(2001). T. Arima, R.A.Drewell, K.L.Armery, J.Inoue, Y.Makita, A.Hata, M.Oshimura, N.Wake, M.A.Surani.:A conseved imprinting control region at the HYMAI/ZAC domain is impricated in transient neonatal diabetes mellitus. Hum Mol Genet 10:1475-1484(2001) T. Inaoka, N. Shuke, J. Sato, Y. Ishikawa, K. Takahashi, T. Aburano, Y. Makita. Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia(Camurati-Engelmann disease). Clin Nuc Med 26:680-682(2001) T. Ishii, Y. Makita, A. Ogawa, S. Amamiya, M. Yamamoto, A. Miyamoto, J. Oki. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain and Development 23:S161-S164(2001) G. Nishimura, H. Nishimura, Y. Tanaka, Y. Makita, S. Ikegawa, M. Ghadami, A. Kinoshita, N. Niikawa.:Camurati-Engelamnn disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet 107:5-11(2002) N. Kurotaki, K. Imaizumi, N. Harada, M. Masuno, T. Kondoh, T. Nagai, H. Ohashi, K. Narutomi, M. Tsukahara, Y. Makita, T. Sugimoto, T, Sonoda, T. Hasegawa, Y. Chinen, H. Tomita, A. Kinoshita, T. Mixuguchi, K. Yoshiura, T. Ohta, T. Kishino, Y. Fukushima, N. Niikawa, N. Matsumoto.: Haploinsufficiency of the NSD1 gene causes Sotos syndrome. Natute Genetics. 30:365-6(2002) Nakamura T, Saionji K, HiejimaY, Hirayama H, Tago K, Takano H, Tajiri M, Hayashi K, Kawabata M, Funamizu M, Makita Y, Hata A. : Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. Am J Kidney Dis 39:1032-9(2002) Ohmori H, Makita Y, Funamizu M, Hirooka K, Hosoi T, Orimo H, Suzuki T, Ikari K, Nakajima T, Inoue I, Hata A. Linkage and association　analyses of the osteoprotegerin　gene locus with human osteoporosis.　J Hum Genet. 47:400-6(2002) Ohmori H, Makita Y, Funamizu M, Chiba S, Ohtani K, Suzuki Y, Wakayama N, Hata A. Haplotype analysis of human collectin placent 1(hCL-P1)gene. J Hum Genet 48:82-5(2003). Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet. 40:285-9(2003). Igarashi S, Makita Y, Hikichi T, Mori F, Hanada K, Yoshida A. Association of keratoconus and Avellino corneal dystrophy. Br J Ophthalmol 87:367-8(2003) Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 22:378-87(2003). Nishimura　G, Ikeda T, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet 2004; 41: 75-79 Ohmori　H, Ando Y, Makita Y, Onouchi Y, Nakajima T,　 Saraiva　MJM, Terazaki H, Suhr O, Sobue G, Yamaizumi M, 　Munar-Ques N, Inoue I,　 Uchino M, Hata A: Common origin of the Val30Met mutation responsible for amyloidogenic transthyretin type familial amyloid polyneuropathy. J Med Genet 2004; 41:e51. Takashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.:Novel SBDS mutaions caused by gene conversion in Japanese patiens with Shwachman-Diamond syndrome. Hum Genet 2004; 114:345-348 Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Hoglund P, Okamoto N, Lupski JR:Phenotypic consequences of genetic variation　at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.Genetics in Medicine Genet Med. 2005 7:479-483. Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenit Anom (Kyoto). 2005 45(4):125-31. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A. 2006 140(3):205-11. Osaki M, Makita Y, Miura J, Abe N, Noguchi S, Miyamoto A. A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. Am J Med Genet A. 2006 140(8): 897-899. Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S. Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine. 2006 (7):E192-7. Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T, Soma M. Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. Hypertension. 2006 (3):512-8. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Tahahashi T, Fukushima Y, Kawame H, Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006 148:410-414 Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J. Construction of a High-density and High-resolution Human Chromosome X Array for Comparative Genomic Hybridization Analysis. J Hum Genet 2007 52:397-405. Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.:Molecular and clinical characterization of cardio -facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007 143:799-807. Nakamura S, Makita Y, Takagi A, Takahsshi H, Ishida-Yamamoto A, Iizuka H. Hutchinson-Gilford progeria syndrome with severe skin calcinosis. Clin Exp Dermatol. 2007 Apr 24 Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene. J Pediatr Hematol Oncol. 2007 29:287-290. Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J. :Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a Girl With Cornelia-de Lange Syndrome Carrying t(5;13)(p13.1;q12.1) by Array-based Comparative Genomic Hybridization. Am J Med Genet 　2007 143(11):1191-7. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab. 92:3979-85 2007. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K.:Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 81:835-41 2007. Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.Clin Genet. 73:257-61 2008 Nishimaki S, Yukawa T, Makita Y, Honda H, Kikuchi N, Minamisawa S, Yokota S. Transient neonatal diabetes mellitus in extremely preterm infant. Arch Dis Child Fetal Neonatal Ed. 93:F240-1 2008. Mashimo Y, Suzuki Y, Hatori K, Tabara Y, Miki T, Tokunaga K, Katsuya T, Ogihara T, Yamada M, Takahashi N, Makita Y, Nakayama T, Soma M, Hirawa N, Umemura S, Ohkubo T, Imai Y, Hata A.Association of TNFRSF4 gene polymorphisms with essential hypertension.J Hypertens. 26:902-913 2008.
競争的資金		平成8年度文部省科学研究費：奨励研究A　新生児一過性糖尿病の発症機序に第６番染色体のisodisomyが関与しているか 平成9年度文部省科学研究費：奨励研究A　 新生児一過性糖尿病の表現型と第6番染色体isodisomyの関連 平成12〜16年度文部省科学研究費：特定領域C 「ゲノム医科学」B01 高血圧発症関連遺伝子群の解明　研究代表者　羽田　明　研究分担者　蒔田芳男 平成13年度　小児・思春期糖尿病研究会研究奨励賞　研究代表者　蒔田芳男 平成15〜17年度日本学術振興会科学研究費：基盤研究C2　多因子疾患発症機構解析のモデルとしてのヒルシュスプルング病発症機構の解析　研究代表者　蒔田芳男 平成15〜17年度国立成育医療センター研究委託事業　15公─1先天異常の遺伝子診断システムの構築に関する研究 　研究代表者　奥山虎之　研究分担者　蒔田芳男 平成19年度NEDO（独立行政法人 新エネルギー・産業技術総合開発機構）委託業務　　ゲノムディスオーダーアレイ（GDアレイ）の実用化　 プロジェクト名大項目：個別化医療の実現のための技術融合バイオ診断技術開発 中項目：染色体解析技術開発 小項目：臨床診断用全自動染色体解析システムの開発 （参加企業：株式会社ビー・エム・エル、富士フィルム株式会社、日本ガイシ株式会社） 共同研究者　蒔田芳男 平成20〜22年度日本学術振興会科学研究費：基盤研究B　ゲノムアレイを用いた先天異常症の効率的な診断法の確立と疾患特異的構造異常の検索　研究代表者　蒔田芳男