Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis

• Material Type: 博士論文
• Title: Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis
• Author/Editor: Mitsui Akagi, Silvia Naomi; Yasue, Akihiro; Masuda, Kiyoshi; Watanabe, Keiichiro; Horiuchi, Shinya; Imoto, Issei; Tanaka, Eiji
• Author Heading: Mitsui Akagi, Silvia Naomi; Yasue, Akihiro; Masuda, Kiyoshi; Watanabe, Keiichiro; Horiuchi, Shinya; Imoto, Issei; Tanaka, Eiji
• Publication, Distribution, etc.: International & American Associations for Dental Research|Sage
• Publication Date: 2014-01-16
• Publication Date (W3CDTF): 2014-01-16
• Alternative Title: 非症候群性歯牙欠損症における新規PAX9遺伝子変異
• Periodical title: Journal of Dental Research
• No. or year of volume/issue: 93 3
• Volume: 93
• Issue: 3
• Pages: 245-249
• ISSN (Periodical Title): ISSN : 0022-0345; ISSN : 1544-0591
• Degree grantor/type: 徳島大学
• Date Granted: 2016-03-23
• Dissertation Number: 甲第2942号
• Degree Type: 博士（歯学）
• Text Language Code: eng
• Subject Heading: Oligodontia; paired domain; transcription factor; Bmp4 promoter assay; novel mutations; haploinsufficiency
• Target Audience: 一般
• Note (General): 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.
• Format (IMT): application/pdf
• Access Restrictions: インターネット公開
• Related Material (DOI): 10.1177/0022034513519801
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 徳島大学 : 徳島大学機関リポジトリ

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http://repo.lib.tokushima-u.ac.jp/files/public/10/109722/20170929143304985816/LID201606211009.pdf fulltext

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