Identification of microUPD and analysis of DNA repair in early development

2011 Fiscal Year Final Research Report

• Project/Area Number: 22659071
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• 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)
• 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, 大学院・医歯薬学総合研究科, COE研究員 (10513319) ; SASAKI Kensaku 長崎大学, 大学院・医歯薬学総合研究科, 大学院生
• Project Period (FY): 2010 – 2011
• Keywords: 分子遺伝学

Research Abstract

To identify the uniparentaldisomy region in normal development using microarray and/ or whole genome sequencing from trio(father-mother-offspring) DNA. We analyzed two trios' whole genome sequence data downloaded from public database. But we could not identify the UPD locus in normal development offspring.

Research Products

• [Journal Article] Maternal uniparentalisodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome (2011)
  • Author(s): Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N.
  • Journal Title: Clin Genet Volume: 80 Pages: 478-483
• [Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred (2011)
  • 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.
  • Journal Title: EurRespir J Volume: 38(4) Pages: 861-869
• [Journal Article] Significance of Genomic Instability in Breast Cancer in Atomic Bomb Survivors : Analysis of Microarray-Comparative Genomic Hybridization (2011)
  • Author(s): Oikawa M, Yoshiura KI, Kondo H, Miura S, Nagayasu T, Nakashima M.
  • Journal Title: RadiatOnco Volume: 16(1) Pages: 168
• [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology (2011)
  • 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.
  • Journal Title: ObstetGynaecol Res Volume: 37(11) Pages: 1666-1670
• [Journal Article] Agile parallel bioinformatics workflow management using Pwrake (2011)
  • Author(s): Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI.
  • Journal Title: BMC Res Notes Sep 8 Volume: 4(1) Pages: 331
• [Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome (2011)
  • 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
  • Journal Title: ProcNatlAcadSci Volume: 108(36) Pages: 14914-14919
• [Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • 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
  • Journal Title: Am J Med Genet A Volume: 155A(7) Pages: 1511-1516
• [Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays (2011)
  • Author(s): Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI.
  • Journal Title: Breast J Volume: 17(4) Pages: 427-430
• [Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis (2011)
  • Author(s): Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H.
  • Journal Title: PLos One Volume: 6(5) Pages: e20589
• [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 K, Masuzaki H.
  • Journal Title: J Hum Genet Volume: 56(4) Pages: 313-315
• [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, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H.
  • Journal Title: J Hum Genet Volume: 56(4) Pages: 296-299
• [Journal Article] Mutationand Copy Number Analysis in Paroxysmal Kinesigenic DyskinesiaFamilies (2011)
  • Author(s): Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A.
  • Journal Title: Movement Disorders Volume: 26(4) Pages: 762-764
• [Journal Article] Coding region polymorphisms in the indoleamine 2, 3-dioxygenase(INDO) gene and recurrent spontaneous abortion (2011)
  • Author(s): Amani D, Ravangard F, Niikawa N, Yoshiura KI, Karimzadeh M, Dehaghani AS, Ghaderi A.
  • Journal Title: J ReprodImmunol Volume: 88(1) Pages: 42-47
• [Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice (2011)
  • 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, FuruichiT, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki
  • Journal Title: Am J Hum Genet Volume: 88(1) Pages: 1-12
• [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 Volume: 55(2) Pages: 124-126
• [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 KI, Kitaoka T.
  • Journal Title: J Hum Genet Volume: 55(3) Pages: 142-146
• [Journal Article] A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1 (2010)
  • Author(s): Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H.
  • Journal Title: Hum Reprod Volume: 25(4) Pages: 1076-1080
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010)
  • 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.
  • Journal Title: Nat Genet Volume: 42(9) Pages: 790-793
• [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome (2010)
  • Author(s): atsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K.
  • Journal Title: m J Med Genet A Volume: 152A(9) Pages: 2262-2267
• [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: Prenatal Diagnosis Volume: 30 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 K.
  • Journal Title: Eur J Med Genet Volume: 53(5) Pages: 244-249
• [Journal Article] Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia (2010)
  • Author(s): Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y.
  • Journal Title: Twin Res Hum Genet Volume: 13(5) Pages: 455-460
• [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: ClinChem Volume: 56(11) Pages: 1767-1771
• [Journal Article] Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11 (2010)
  • 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, Endo I and Shimada H.
  • Journal Title: Anticancer Res Volume: 30(12) Pages: 5189-5194
• [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia (2009)
  • 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.
  • Journal Title: Am J Med Genet A Volume: 149A(4) Pages: 816-818
• [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D (2009)
  • Author(s): Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N.
  • Journal Title: Am J Med Genet A Volume: 149A(4) Pages: 785-787
• [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 KI, Niikawa N, Kishino T.
  • Journal Title: Gene Volume: 432(1-2) Pages: 97-101
• [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11. 23 (2009)
  • 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.
  • Journal Title: Am J Med Genet A Volume: 149A(3) Pages: 336-342
• [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 Volume: 54(5) Pages: 304-309
• [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.
  • Journal Title: FASEB J Volume: 23(6) Pages: 2001-2013
• [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene (2009)
  • Author(s): Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N.
  • Journal Title: BMC Genet Volume: 10 Pages: 42
• [Journal Article] Searching for genes for cleft lip and/ or palate based on breakpoint analysis of a balanced translocation t(9 ; 17)(q32 ; q12) (2009)
  • Author(s): Machida J, Felix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T.
  • Journal Title: Cleft Palate Craniofac J Volume: 46(5) Pages: 532-540
• [Journal Article] The Super Science High School Consortium. Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium (2009)
  • Journal Title: J Hum Genet Volume: 54(9) Pages: 499-503
• [Journal Article] Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/ or Palate (2009)
  • Author(s): Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC.
  • Journal Title: Twin Res Hum Genet Volume: 12(5) Pages: 462-468
• [Presentation] (2011)
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜,横浜
  • Year and Date: 20111213-16
• [Presentation] (2011)
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ,千葉
  • Year and Date: 20111109-12
• [Presentation] (2011)
  • Organizer: 61^<st> Annual Meeting, Montoreal
  • Place of Presentation: Canada
  • Year and Date: 20111011-15
• [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
• [Presentation] 放射線災害医療の国際教育拠点確立に向けた機関連携事業 (2011)
  • Organizer: 第7回広島大学・長崎大学連携研究事業カンファランス
  • Place of Presentation: 広島大学霞キャンパス,広島
  • Year and Date: 2011-06-04
• [Presentation] (2010)
  • Organizer: 第33回日本分子生物学会年会・第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド,神戸
  • Year and Date: 20101207-10
• [Presentation] (2010)
  • Organizer: The 35th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: Wakayama Prefectural Cultural Hall(和歌山県民文化会館)
  • Year and Date: 20101203-05
• [Presentation] The American Society of Human Genetics (2010)
  • Organizer: 59^<th> Annual Meeting
  • Place of Presentation: Washigton D. C., Baltimore
  • Year and Date: 20101102-06
• [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
  • Year and Date: 20101027-30
• [Presentation] (2010)
  • Organizer: 20^<th> ISUOG World Congress:
  • Place of Presentation: Prague, Czech Republic
  • Year and Date: 20101010-14
• [Presentation] (2010)
  • Organizer: 第48回日本婦人科腫瘍学会
  • Place of Presentation: つくば国際会議場、茨城
  • Year and Date: 20100708-10
• [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
  • Year and Date: 20100527-28
• [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
  • Year and Date: 20100520-22
• [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
  • Year and Date: 20100408-10
• [Presentation] 放射線災害医療の国際教育拠点確立に向けた機関連携事業- (2010)
  • Organizer: 第6回広島大学・長崎大学連携研究事業カンファランス
  • Place of Presentation: 長崎大学医学部ボードインホール,長崎
  • Year and Date: 2010-06-05
• [Presentation] The American Society of Human Genetics (2009)
  • Organizer: 59^<th> Annual Meeting
  • Place of Presentation: Honolulu, Hawaii
  • Year and Date: 20091020-27
• [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
  • Year and Date: 20090923-26
• [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
  • Year and Date: 20090730-0801
• [Presentation]
  • Organizer: 12^<th> Unternational Congress of Human Genetics and The American Society of Human Genetics
• [Book] カラー図解基礎から疾患までわかる遺伝学
  • Author(s): Eberhard Passarge
  • Publisher: メディカル・サイエンス・インターナショナル