http://purl.uniprot.org/citations/10319869 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10319869 | http://www.w3.org/2000/01/rdf-schema#comment | "The X-linked red- and green-pigment genes are arranged in a head-to-tail tandem array. The colour-vision defect of deuteranomaly (in 5% of males of European descent) is associated with a 5'-green-red-3' visual-pigment hybrid gene, which may also exist in males with normal colour vision. To explain why males with a normal red, a normal green and a green-red hybrid gene may have either normal or deutan colour vision, we hypothesized that only the first two genes are expressed and deuteranomaly results only if the green-red hybrid gene occupies the second position and is expressed preferentially over normal green-pigment genes occupying more distal positions. We used long-range PCR amplification and studied 10 deutan males (8 deuteranomalous and 2 deuteranopic) with 3 visual pigment genes (red, green and green-red hybrid) to investigate whether position of the hybrid gene in the array determined gene expression. The green-red hybrid gene was always at the second position (and the first position was always occupied by the red gene). Conversely, in two men with red, green and green-red hybrid genes and normal colour vision, the hybrid gene occupied the third position. When pigment gene mRNA expression was assessed in post-mortem retinae of three men with the red, green and green-red genotype, the green-red hybrid gene was expressed only when located in the second position. We conclude that the green-red hybrid gene will only cause deutan defects when it occupies the second position of the pigment gene array."xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.org/dc/terms/identifier | "doi:10.1038/8798"xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/author | "Hayashi T."xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/author | "Deeb S.S."xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/author | "Motulsky A.G."xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/pages | "90-93"xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/title | "Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype."xsd:string |
http://purl.uniprot.org/citations/10319869 | http://purl.uniprot.org/core/volume | "22"xsd:string |
http://purl.uniprot.org/citations/10319869 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10319869 |
http://purl.uniprot.org/citations/10319869 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10319869 |
http://purl.uniprot.org/uniprot/P04001#attribution-1AEE106BF3A864EC1EB8085B4795A303 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/10319869 |