アクセス数 : ?
ダウンロード数 : ?
ID 109722
タイトル別表記
非症候群性歯牙欠損症における新規PAX9遺伝子変異
著者
ミツイ アカギ, シルビア ナオミ 徳島大学大学院口腔科学教育部(口腔科学専攻) 徳島大学 教育研究者総覧
増田, 清士 The University of Tokushima KAKEN研究者をさがす
キーワード
Oligodontia
paired domain
transcription factor
Bmp4 promoter assay
novel mutations
haploinsufficiency
資料タイプ
学位論文
抄録
PAX9 is a transcription factor expressed in the tooth mesenchyme during tooth morphogenesis. In Pax9-null mice, tooth development is arrested at the bud stage. In humans, heterozygous mutations in PAX9 have been associated with non-syndromic tooth agenesis, predominantly in the molars. Here, we report 2 novel mutations in the paired domain of PAX9, a three-nucleotide deletion (73-75 delATC) and a missense mutation (C146T), in two unrelated Japanese patients with non-syndromic tooth agenesis. The individual with the 73-75del ATC mutation was missing all maxillary molars and mandibular second and third molars. The individual with the C146T mutation was missing the mandibular central incisors, maxillary second premolars, and first molars, along with all second and third molars. Both mutations affected amino acids that are highly conserved among different species and are critical for DNA binding. When both mutants were transfected to COS7 cells, nuclear localization of PAX9 proteins was not affected. However, reduced expression of the mutant proteins and almost no transcriptional activity of the target BMP4 gene were observed, suggesting haploinsufficiency of PAX9 as the cause of nonsyndromic tooth agenesis.
掲載誌名
Journal of Dental Research
ISSN
00220345
15440591
cat書誌ID
AA00696534
出版者
International & American Associations for Dental Research|Sage
93
3
開始ページ
245
終了ページ
249
発行日
2014-01-16
備考
内容要旨・審査要旨・論文本文の公開:
内容要旨 : LID201606211009.pdf
審査要旨 : LID201606211010.pdf
論文本文 : LID201607221001.pdf
本論文は, 著者S.N. Mitsuiの学位論文として提出され, 学位審査・授与の対象となっている。
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
博士論文全文を含む
文科省報告番号
甲第2942号
学位記番号
甲口第407号
学位授与年月日
2016-03-23
学位名
博士(歯学)
学位授与機関
徳島大学
部局
歯学系
病院