Source:http://linkedlifedata.com/resource/pubmed/id/15518188
| Subject | Predicate | Object | Context |
|---|---|---|---|
| pubmed-article:15518188 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15518188 | lifeskim:mentions | umls-concept:C0086345 | lld:lifeskim |
| pubmed-article:15518188 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:15518188 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:15518188 | pubmed:dateCreated | 2004-11-2 | lld:pubmed |
| pubmed-article:15518188 | pubmed:abstractText | The normal X-chromosome-linked color-vision gene array is composed of a single long-wave-sensitive (L-) pigment gene followed by one or more middle-wave-sensitive (M-) pigment genes. The expression of these genes to form L- or M-cones is controlled by the proximal promoter and by the locus control region. The high degree of homology between the L- and M-pigment genes predisposed them to unequal recombination, leading to gene deletion or the formation of L/M hybrid genes that explain the majority of the common red-green color-vision deficiencies. Hybrid genes encode a variety of L-like or M-like pigments. Analysis of the gene order in arrays of normal and deutan subjects indicates that only the two most proximal genes of the array contribute to the color-vision phenotype. This is supported by the observation that only the first two genes of the array are expressed in the human retina. The severity of the color-vision defect is roughly related to the difference in absorption maxima (lambda(max)) between the photopigments encoded by the first two genes of the array. A single amino acid polymorphism (Ser180Ala) in the L pigment accounts for the subtle difference in normal color vision and influences the severity of red-green color-vision deficiency. Blue-cone monochromacy is a rare disorder that involves absence of L- and M-cone function. It is caused either by deletion of a critical region that regulates expression of the L/M gene array, or by mutations that inactivate the L- and M-pigment genes. Total color blindness is another rare disease that involves complete absence of all cone function. A number of mutants in the genes encoding the cone-specific alpha- and beta-subunits of the cGMP-gated cation channel as well as in the alpha-subunit of transducin have been implicated in this disorder. | lld:pubmed |
| pubmed-article:15518188 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15518188 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15518188 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15518188 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15518188 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15518188 | pubmed:issn | 0952-5238 | lld:pubmed |
| pubmed-article:15518188 | pubmed:author | pubmed-author:DeebSamir SSS | lld:pubmed |
| pubmed-article:15518188 | pubmed:issnType | lld:pubmed | |
| pubmed-article:15518188 | pubmed:volume | 21 | lld:pubmed |
| pubmed-article:15518188 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15518188 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15518188 | pubmed:pagination | 191-6 | lld:pubmed |
| pubmed-article:15518188 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:meshHeading | pubmed-meshheading:15518188... | lld:pubmed |
| pubmed-article:15518188 | pubmed:articleTitle | Molecular genetics of color-vision deficiencies. | lld:pubmed |
| pubmed-article:15518188 | pubmed:affiliation | Department of Medicine, University of Washington, Seattle, USA. sdeeb@washington.edu | lld:pubmed |
| pubmed-article:15518188 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15518188 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:15518188 | pubmed:publicationType | Review | lld:pubmed |