| Title |
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia
|
|---|---|
| Published in |
Human Genetics, December 2003
|
| DOI | 10.1007/s00439-003-1066-6 |
| Pubmed ID | |
| Authors |
Dolrudee Jumlongras, Jenn-Yih Lin, Anas Chapra, Christine E. Seidman, Jonathan G. Seidman, Richard L. Maas, Bjorn R. Olsen |
| Abstract |
PAX9, a paired domain transcription factor, has important functions in craniofacial and limb development. Heterozygous mutations of PAX9, including deletion, nonsense, or frameshift mutations that lead to a premature stop codon, and missense mutations, were previously shown to be associated with autosomal dominant oligodontia. Here, we report a novel missense mutation that lies in the highly conserved paired domain of PAX9 and that is associated with non-syndromic oligodontia in one family. The mutation, 83G-->C, is predicted to result in the substitution of arginine by proline (R28P) in the N-terminal subdomain of PAX9 paired domain. To rule out the possibility that this substitution is a rare polymorphism and to test whether the predicted amino acid substitution disrupts protein-DNA binding, we analyzed the binding of wild-type and mutant PAX9 paired domain to double-stranded DNA targets. The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia. |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 30 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 5 | 17% |
| Student > Master | 5 | 17% |
| Student > Ph. D. Student | 4 | 13% |
| Researcher | 4 | 13% |
| Student > Doctoral Student | 3 | 10% |
| Other | 5 | 17% |
| Unknown | 4 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 43% |
| Agricultural and Biological Sciences | 8 | 27% |
| Biochemistry, Genetics and Molecular Biology | 2 | 7% |
| Social Sciences | 2 | 7% |
| Psychology | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 4 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 December 2007.
All research outputs
#8,535,472
of 25,374,647 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#36,272
of 143,198 outputs
Outputs of similar age from Human Genetics
#8
of 15 outputs
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