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PMID:22676574
| Citation |
Muto, T, Miyoshi, K, Horiguchi, T, Hagita, H and Noma, T (2012) Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta. Orphanet J Rare Dis 7:34 |
|---|---|
| Abstract |
Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat strain, but the causative gene has not yet been clarified. Through a genetic screen, we identified the causative gene of autosomal recessive AI in AMI and analyzed its role in amelogenesis. |
| Links |
PubMed PMC3464675 Online version:10.1186/1750-1172-7-34 |
| Keywords |
Amelogenesis Imperfecta/genetics; Animals; Blotting, Western; Codon/genetics; Disease Models, Animal; Genetic Linkage/genetics; Genotyping Techniques; Immunohistochemistry; Kruppel-Like Transcription Factors/genetics; Mutation; Rats |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
part_of |
GO:0005829: cytosol |
ECO:0000314: direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634: nucleus |
ECO:0000314: direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
| GO:0005829: cytosol |
ECO:0000314: |
C |
Figure 1E shows AMI-Sp6 and WT were both found to a small extent in cytosol |
complete | ||||
| GO:0005634: nucleus |
ECO:0000314: |
C |
Figure 1E shows that AMI-sp6 is also found in the nucleus |
complete | ||||
See also
References
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