| Title |
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants
|
|---|---|
| Published in |
Journal of Molecular Medicine, April 2006
|
| DOI | 10.1007/s00109-006-0048-2 |
| Pubmed ID | |
| Authors |
Gilles Chatelain, Nicolas Fossat, Gilbert Brun, Thomas Lamonerie |
| Abstract |
The paired-type homeodomain transcription factor Otx2 is essential for forebrain and eye development. Severe ocular malformations in humans have recently been associated with heterozygous OTX2 mutations. To document the molecular defects in human mutants, Otx2 structural characterization was carried out. A collection of deletion and point mutants was created to perform transactivation, DNA binding, and subcellular localization analyses. Transactivation was ascribed to both N- and C-termini of the protein, and DNA binding to the minimal homeodomain, where critical amino acid residues were identified. Acute nuclear localization appeared controlled by a nuclear localization sequence located within the homeodomain which acts in conjunction with a novel nuclear retention domain that we unraveled located in the central part of the protein. This region, which is poorly conserved among Otx proteins, was also endowed with dominant negative activity suggesting that it might confer unique properties to Otx2. Molecular diagnostic of human mutant OTX2 proteins discriminates hypomorphic and loss of function mutations from other mutations that may not be relevant to ocular pathology. |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 5% |
| Unknown | 19 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 25% |
| Student > Master | 4 | 20% |
| Other | 2 | 10% |
| Student > Ph. D. Student | 1 | 5% |
| Student > Doctoral Student | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 5 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 25% |
| Agricultural and Biological Sciences | 5 | 25% |
| Biochemistry, Genetics and Molecular Biology | 4 | 20% |
| Computer Science | 1 | 5% |
| Unknown | 5 | 25% |
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 20 December 2007.
All research outputs
#7,454,066
of 22,789,076 outputs
Outputs from Journal of Molecular Medicine
#504
of 1,551 outputs
Outputs of similar age
#23,274
of 66,333 outputs
Outputs of similar age from Journal of Molecular Medicine
#5
of 10 outputs
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