The role of  PAX9  promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Background

The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 ( PAX9). The expression of PAX9 is controlled by several polymorphic elements in the promoter region of the gene on 14q13.3 locus. The aim of this study was to find any association between PAX9 c.-912T>C (rs2073247) and c.-1031G>A (rs2073244) promoter polymorphisms and the development of hypodontia among the Jordanian population.

Methods

Genotyping of the polymorphisms in 72 unrelated subjects with hypodontia was performed using PCR-restriction fragment length polymorphism (RFLP) technique and compared with that of 72 normal healthy unrelated control individuals.

Results

The hypodontia group had a significantly higher -1031GG genotype ( P<0.01) and a significantly lower -912TC genotype ( P<0.01) compared with the control group. The results suggest that the transcriptional activity of PAX9 gene is affected by polymorphisms in the promoter region of this gene and is associated with hypodontia phenotype.

Conclusion

The rs2073247) and rs2073244 promoter polymorphisms of PAX9 might play a role in the development of hypodontia in the Jordanian population.

Related collections

Most cited references 33

Record: found
Abstract: found
Article: not found

Reiterative signaling and patterning during mammalian tooth morphogenesis.

I Thesleff, J Jernvall (2000)

Mammalian dentition consists of teeth that develop as discrete organs. From anterior to posterior, the dentition is divided into regions of incisor, canine, premolar and molar tooth types. Particularly teeth in the molar region are very diverse in shape. The development of individual teeth involves epithelial-mesenchymal interactions that are mediated by signals shared with other organs. Parts of the molecular details of signaling networks have been established, particularly in the signal families BMP, FGF, Hh and Wnt, mostly by the analysis of gene expression and signaling responses in knockout mice with arrested tooth development. Recent evidence suggests that largely the same signaling cascade is used reiteratively throughout tooth development. The successional determination of tooth region, tooth type, tooth crown base and individual cusps involves signals that regulate tissue growth and differentiation. Tooth type appears to be determined by epithelial signals and to involve differential activation of homeobox genes in the mesenchyme. This differential signaling could have allowed the evolutionary divergence of tooth shapes among the four tooth types. The advancing tooth morphogenesis is punctuated by transient signaling centers in the epithelium corresponding to the initiation of tooth buds, tooth crowns and individual cusps. The latter two signaling centers, the primary enamel knot and the secondary enamel knot, have been well characterized and are thought to direct the differential growth and subsequent folding of the dental epithelium. Several members of the FGF signal family have been implicated in the control of cell proliferation around the non-dividing enamel knots. Spatiotemporal induction of the secondary enamel knots determines the cusp patterns of individual teeth and is likely to involve repeated activation and inhibition of signaling as suggested for patterning of other epithelial organs.

0 comments Cited 170 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: not found
Article: not found

Mutation of PAX9 is associated with oligodontia.

R. D'Souza, David Goldenberg, M Goldenberg … (1999)

0 comments Cited 71 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Pax genes and organogenesis.

Anna Dahl, H Koseki, R Balling (1997)

Pax genes are a family of developmental control genes that encode nuclear transcription factors. They are characterized by the presence of the paired domain, a conserved amino acid motif with DNA-binding activity. Originally, paired-box-containing genes were detected in Drosophila melanogaster, where they exert multiple functions during embryogenesis. In vertebrates, Pax genes are also involved in embryogenesis. Mutations in four out of nine characterized Pax genes have been associated with either congenital human diseases such as Waardenburg syndrome (PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development. Recently, analysis of spontaneous and transgenic mouse mutants has revealed that vertebrate pax genes are key regulators during organogenesis of kidney, eye, ear, nose, limb muscles, vertebral column and brain. Like their Drosophila counterparts, vertebrate Pax genes are involved in pattern formation during embryogenesis, possibly by determining the time and place of organ initiation or morphogenesis. For most tissues, however, the nature of the primary developmental action of Pax transcription factors remains to be elucidated. One predominant theme is signal transduction during tissue interactions, which may lead to a position-specific regulation of cell proliferation.

0 comments Cited 48 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): Appl Clin Genet

Journal ID (iso-abbrev): Appl Clin Genet

Journal ID (publisher-id): The Application of Clinical Genetics

Title: The Application of Clinical Genetics

Publisher: Dove Medical Press

ISSN (Electronic): 1178-704X

Publication date Collection: 2018

Publication date (Electronic): 21 November 2018

Volume: 11

Pages: 145-149

Affiliations

[1 ]Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan, khabour@ 123456just.edu.jo

[2 ]Department of Applied Dental Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan

Author notes

Correspondence: Omar F. Khabour, Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan, Tel +962 797 855 269, Email khabour@ 123456just.edu.jo

Article

Publisher ID: tacg-11-145

DOI: 10.2147/TACG.S183212

PMC ID: 6254497

SO-VID: 98020b65-e190-43d2-b23a-0b4d68a4d43a

License:

The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population

Read this article at

Abstract

Background

Methods

Results

Conclusion

Related collections

CRISPR/Cas9 editing in human blood

Most cited references 33

Reiterative signaling and patterning during mammalian tooth morphogenesis.

Mutation of PAX9 is associated with oligodontia.

Pax genes and organogenesis.

Author and article information

Journal

Affiliations

Author notes

Article

History

Categories

Comments

Comment on this article

Similar content 814

Cited by 1

Most referenced authors 273