Iris phenotypes and pigment dispersion caused by genes influencing pigmentation

Summary Spontaneous mutations altering mouse coat colors have been a classic resource for discovery of numerous molecular pathways. Although often overlooked, the mouse iris is also densely pigmented and easily observed, thus representing a similarly powerful opportunity for studying pigment cell bi...

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Published in:Pigment cell and melanoma research 2008-10, Vol.21 (5), p.565-578
Main Authors: Anderson, Michael G., Hawes, Norman L., Trantow, Colleen M., Chang, Bo, John, Simon W.M.
Format: Article
Language:English
Subjects:
Animals
Base Sequence
Dct
eye
glaucoma
Hair
Humans
iris
Iris - anatomy & histology
Iris - physiology
Melanosomes - physiology
Membrane Glycoproteins - genetics
Membrane Glycoproteins - metabolism
Mice
Mice, Inbred C57BL
Mice, Inbred Strains
Mutation
Oxidoreductases - genetics
Oxidoreductases - metabolism
Phenotype
pigment dispersion
Pigmentation - genetics
Pigments, Biological - metabolism
Sequence Analysis, DNA
Tyrp1
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Summary:Summary Spontaneous mutations altering mouse coat colors have been a classic resource for discovery of numerous molecular pathways. Although often overlooked, the mouse iris is also densely pigmented and easily observed, thus representing a similarly powerful opportunity for studying pigment cell biology. Here, we present an analysis of iris phenotypes among 16 mouse strains with mutations influencing melanosomes. Many of these strains exhibit biologically and medically relevant phenotypes, including pigment dispersion, a common feature of several human ocular diseases. Pigment dispersion was identified in several strains with mutant alleles known to influence melanosomes, including beige, light, and vitiligo. Pigment dispersion was also detected in the recently arising spontaneous coat color variant, nm2798. We have identified the nm2798 mutation as a missense mutation in the Dct gene, an identical re‐occurrence of the slaty light mutation. These results suggest that dysregulated events of melanosomes can be potent contributors to the pigment dispersion phenotype. Combined, these findings illustrate the utility of studying iris phenotypes as a means of discovering new pathways, and re‐linking old ones, to processes of pigmented cells in health and disease.
ISSN:1755-1471
1755-148X
DOI:10.1111/j.1755-148X.2008.00482.x