PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.
Arch Oral Biol
; 56(4): 337-44, 2011 Apr.
Article
em En
| MEDLINE
| ID: mdl-21111400
OBJECTIVE: The molecular variation of paired domain box gene 9 (PAX9) was previously investigated by our research group and a high degree of evolutionary conservation in coding and non-coding regions was observed except in exon 3. PAX9 is a transcription factor important in tooth development, and we wanted to verify its role in dental agenesis in detail. Since dental development is a complex trait we also decided to examine the influence of another transcription factor, muscle segment homeodomain-homeobox 1 (MSX1) on it. DESIGN: A total of 360 consecutively ascertained patients seeking orthodontic treatment were screened for tooth agenesis and 33% of them were found to have it. Thirty-five of those with agenesis and 15 controls had their DNA studied for PAX9 exons 2, 3, 4 and adjacent regions (total of 1476 base pairs, bp) as well as MSX1 exon 2 (698bp). A trio (a proband and her parents) was also studied. RESULTS: Six polymorphic sites were found, three in PAX9 exon 3 and three in MSX1 exon2. MSX1 rs1095 derived allele occurred in individuals with agenesis only, and two other mutations in this gene had been earlier associated with tooth agenesis. Homozygosity for the PAX9 Ala240Pro mutation was studied in a family (proband and her parents), suggesting recessive inheritance with variable expressivity for the dental agenesis found. CONCLUSION: Common variants located out of the DNA binding domain of the two PAX9 and MSX1 genes can also be related to tooth agenesis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator de Transcrição MSX1
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Fator de Transcrição PAX9
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Anodontia
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Odontogênese
Tipo de estudo:
Observational_studies
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Risk_factors_studies
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Arch Oral Biol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Reino Unido