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ID 109722
Title Alternative
非症候群性歯牙欠損症における新規PAX9遺伝子変異
Author
Masuda, Kiyoshi The University of Tokushima KAKEN Search Researchers
Imoto, Issei The University of Tokushima KAKEN Search Researchers
Keywords
Oligodontia
paired domain
transcription factor
Bmp4 promoter assay
novel mutations
haploinsufficiency
Content Type
Thesis or Dissertation
Description
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.
Journal Title
Journal of Dental Research
ISSN
00220345
15440591
NCID
AA00696534
Publisher
International & American Associations for Dental Research|Sage
Volume
93
Issue
3
Start Page
245
End Page
249
Published Date
2014-01-16
Remark
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
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
ETD
MEXT report number
甲第2942号
Diploma Number
甲口第407号
Granted Date
2016-03-23
Degree Name
Doctor of Dental Science
Grantor
Tokushima University
departments
Oral Sciences
University Hospital