| http://purl.uniprot.org/citations/22038471 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22038471 | http://www.w3.org/2000/01/rdf-schema#comment | "Adrenocortical dysplasia (acd) is a spontaneous autosomal recessive mouse mutation exhibiting caudal truncation, vertebral segmentation defects, hydronephrosis, limb hypoplasia, and perinatal lethality. Acd encodes TPP1, a component of the shelterin complex that maintains telomere integrity, and consequently acd mutant mice have telomere dysfunction and genomic instability. We previously showed that apoptosis is the primary mechanism causing the acd skeletal phenotype, and that p53 deficiency rescues the skeletal defects of the acd phenotype but has no effect on the perinatal lethality. The Trp63 gene encodes multiple isoforms, which play a role in proliferation, apoptosis, and stem/progenitor cell maintenance. Different p63 isoforms exhibit both proapoptotic (TAp63) and antiapoptotic (ΔNp63) functions. We hypothesized that deficiency of proapoptotic TAp63 isoforms might rescue the acd skeletal phenotype, similar to our previous observations with deficiency of p53. Mice heterozygous for a null allele of TAp63 were crossed to heterozygous acd mice to determine the effect of TAp63 deficiency on the acd mutant phenotype. In contrast to our results with the acd × p53 cross, skeletal anomalies were not rescued by deficiency of TAp63. In fact, the limb and vertebral anomalies observed in double-mutant embryos were more severe than those of embryos with the acd mutation alone, demonstrating a dose-dependent effect. These studies suggest that TAp63 isoforms do not facilitate p53-like apoptosis during development in response to acd-mediated telomere dysfunction and are consistent with the proposed roles of TAp63 in maintaining genomic stability."xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00335-011-9360-4"xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/author | "Keegan C.E."xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/author | "Macke E.L."xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/author | "O'Connor B.C."xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/name | "Mamm Genome"xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/pages | "714-721"xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/title | "Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype."xsd:string |
| http://purl.uniprot.org/citations/22038471 | http://purl.uniprot.org/core/volume | "22"xsd:string |
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