| http://purl.uniprot.org/citations/7684942 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7684942 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7684942 | http://www.w3.org/2000/01/rdf-schema#comment | "A family displaying hereditary persistence of alpha-fetoprotein (HPAFP) in adult life was detected in an antenatal screening programme for spina bifida. RFLP linkage analysis shows that the trait is linked with the albumin-AFP locus. The molecular mechanism responsible for the post-natal repression of the AFP gene is unknown. We wished to determine the molecular mechanism underlying HPAFP in this family. Sequence analysis of the 5'-flanking sequences of their gene revealed a GA substitution at position -119 associated with the trait. This substitution occurs in a potential HNF I binding site, and increases the similarity of the sequence to a consensus HNF I recognition site. In a competitive gel retardation assay the mutant sequence binds HNF I alpha more tightly than the wild type sequence. Furthermore, 5'-flanking sequences of the human AFP gene containing the G-->A substitution direct a higher level of CAT expression in transfected human hepatoma cells than the wild type sequences. We conclude that the G-->A substitution at position -119 of the AFP gene is the mutation causing HPAFP in this family. These results highlight the importance of this HNF I binding site in the developmental regulation of the AFP gene."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.4.379"xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.4.379"xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "McVey J.H."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "McVey J.H."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Ferguson-Smith M."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Ferguson-Smith M."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Krumlauf R."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Krumlauf R."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Tuddenham E.G.D."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Tuddenham E.G.D."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Hansen L.P."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Hansen L.P."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Michaelides K."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Michaelides K."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Tilghman S."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/author | "Tilghman S."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/pages | "379-384"xsd:string |
| http://purl.uniprot.org/citations/7684942 | http://purl.uniprot.org/core/pages | "379-384"xsd:string |