Source:http://linkedlifedata.com/resource/pubmed/id/15312026
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4-5
|
| pubmed:dateCreated |
2004-8-17
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| pubmed:abstractText |
Common variation in colour vision exists among both colour normal and colour deficient subjects. Differences at a few amino acid positions that influence the spectra of the L and M cone pigments account for most of this variation. The genes encoding the L and M photopigments are arranged in head-to-tail arrays on the X-chromosome, beginning with the L and followed by one or more M pigment genes. The L and M pigment genes are highly homologous, which predisposed them to unequal crossing over (recombination) resulting in gene deletions and in formation of L/M hybrid genes that encode a variety of pigments with either L-like or M-like spectra that account for the majority of colour vision defects. Only the first two pigment genes of the L/M array are expressed in the retina and, therefore, need to be considered in predicting colour vision. A common single amino acid polymorphism (serine or alanine) at position 180 of the L-pigment plays an important role both in variation in normal colour vision and in the severity of colour vision defects. Blue cone monochromacy is a rare form of colour vision deficiency that results from mutations that abolish function of both the L and M pigment genes. All the above defects are inherited as X-linked recessive traits. Tritanopia is also a rare autosomal dominant colour vision defect caused by mutations in the S pigment gene located on chromosome 7. Total colour blindness (achromatopsia or rod monochromacy) is a rare autosomal recessive trait caused by mutations in genes encoding the proteins of the photoreceptor cation channel or cone transducin that are essential for function of all classes of cone.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
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| pubmed:issn |
0816-4622
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
87
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
224-9
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading | |
| pubmed:year |
2004
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| pubmed:articleTitle |
Molecular genetics of colour vision deficiencies.
|
| pubmed:affiliation |
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review
|