徳島大学 教育・研究者情報データベース(EDB)

Education and Research Database (EDB), Tokushima University

徳島大学ウェブサイトへのリンク

著作: [武藤 太郎]/[三好 圭子]/[堀口 大吾]/Hagita Hiroko/[野間 隆文]/Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta/[Orphanet Journal of Rare Diseases]

ヘルプを読む

「著作」(著作(著書,論文,レター,国際会議など))は,研究業績にかかる著作(著書,論文,レター,国際会議など)を登録するテーブルです. (この情報が属するテーブルの詳細な定義を見る)

  • 項目名の部分にマウスカーソルを置いて少し待つと,項目の簡単な説明がツールチップ表示されます.

この情報をEDB閲覧画面で開く

EID
248488
EOID
655435
Map
0
LastModified
2012年8月29日(水) 17:09:27
Operator
大家 隆弘
Avail
TRUE
Censor
0
Owner
野間 隆文
Read
継承
Write
継承
Delete
継承
種別 必須 学術論文(審査論文)
言語 必須 英語
招待 推奨
審査 推奨
カテゴリ 推奨
共著種別 推奨
学究種別 推奨
組織 推奨
著者 必須
  1. 武藤 太郎
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. 三好 圭子([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.基礎歯学系.分子医化学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
  3. 堀口 大吾([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.基礎歯学系.分子医化学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. (英) Hagita Hiroko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. 野間 隆文([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.基礎歯学系.分子医化学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta

副題 任意
要約 任意

(英) ABSTRACT: BACKGROUND: Amelogenesis imperfecta (AI) is an inherited disorder characterized by incomplete formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat strain, but the causative gene has not yet been clarified. Through a genetic screen, we identified the causative gene of autosomal recessive AI in AMI and analyzed its role in amelogenesis. METHODS: cDNA sequencing of possible AI-candidate genes so far identified using total RNA of day 6 AMI rat molars identified a novel responsible mutation in specificity protein 6 (Sp6). Genetic linkage analysis was performed between Sp6 and AI phenotype in AMI. To understand a role of SP6 in AI, we generated the transgenic rats harboring Sp6 transgene in AMI (Ami/Ami + Tg). Histological analyses were performed using the thin sections of control rats, AMI, and Ami/Ami + Tg incisors in maxillae, respectively. RESULTS: We found the novel genetic linkage between a 2-bp insertional mutation of Sp6 gene and the AI phenotype in AMI rats. The position of mutation was located in the coding region of Sp6, which caused frameshift mutation and disruption of the third zinc finger domain of SP6 with 11 cryptic amino acid residues and a stop codon. Transfection studies showed that the mutant protein can be translated and localized in the nucleus in the same manner as the wild-type SP6 protein. When we introduced the CMV promoter-driven wild-type Sp6 transgene into AMI rats, the SP6 protein was ectopically expressed in the maturation stage of ameloblasts associated with the extended maturation stage and the shortened reduced stage without any other phenotypical changes. CONCLUSION: We propose the addition of Sp6 mutation as a new molecular diagnostic criterion for the autosomal recessive AI pateints. Our findings expand the spectrum of genetic causes of autosomal recessive AI and sheds light on the molecular diagnosis for the classification of AI. Furthermore, tight regulation of the temporospatial expression of SP6 may have critical roles in completing amelogenesis. .

キーワード 推奨
発行所 推奨
誌名 必須 Orphanet Journal of Rare Diseases(BioMed Central Ltd.)
(eISSN: 1750-1172)
ISSN 任意 1750-1172
ISSN: 1750-1172 (eISSN: 1750-1172)
Title: Orphanet journal of rare diseases
Title(ISO): Orphanet J Rare Dis
Publisher: BioMed Central
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 7
必須 1
必須 ---
都市 任意
年月日 必須 2012年 6月 7日
URL 任意
DOI 任意 10.1186/1750-1172-7-34    (→Scopusで検索)
PMID 任意 22676574    (→Scopusで検索)
NAID 任意
WOS 任意
Scopus 任意
評価値 任意
被引用数 任意
指導教員 推奨
備考 任意
  1. (英) PublicationType: JOURNAL ARTICLE