| http://purl.uniprot.org/citations/14504237 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14504237 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14504237 | http://www.w3.org/2000/01/rdf-schema#comment | "Previous studies have indicated that the Undulated short-tail deletion mutation in mouse Pax1 (Pax1(Un-s)) not only ablates Pax1, but also disturbs a gene or genes nearby Pax1. However, which gene(s) is involved and how the Pax1(Un-s) phenotype is confined to the Pax1-positive tissues remain unknown. In the present study, we determined the Pax1(Un-s) deletion interval to be 125 kb and characterized genes around Pax1. We show that the Pax1(Un-s) mutation affects four physically linked genes within or near the deletion, including Pax1, Nkx2-2, and their potential antisense genes. Remarkably, Nkx2-2 is ectopically activated in the sclerotome and limb buds of Pax1(Un-s) embryos, both of which normally express Pax1. This result suggests that the Pax1(Un-s) deletion leads to an illegitimate interaction between remotely located Pax1 enhancers and the Nkx2-2 promoter by disrupting an insulation mechanism between Pax1 and Nkx2-2. Furthermore, we show that expression of Bapx1, a downstream target of Pax1, is more strongly affected in Pax1(Un-s) mutants than in Pax1-null mutants, suggesting that the ectopic expression of Nkx2-2 interferes with the Pax1-Bapx1 pathway. Taken together, we propose that a combination of a loss-of-function mutation of Pax1 and a gain-of-function mutation of Nkx2-2 is the molecular basis of the Pax1(Un-s) mutation."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.org/dc/terms/identifier | "doi:10.1093/genetics/165.1.299"xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Abe K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Abe K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Hayashizaki Y."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Hayashizaki Y."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Suzuki M."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Suzuki M."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Sakai N."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Sakai N."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Imai K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Imai K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Yamamura K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Yamamura K."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Wahl M."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Wahl M."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Kokubu T."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Kokubu T."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Kokubu C."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Kokubu C."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Rodrigo I."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Rodrigo I."xsd:string |
| http://purl.uniprot.org/citations/14504237 | http://purl.uniprot.org/core/author | "Wilm B."xsd:string |