Journal article
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation
Pigment cell and melanoma research, Vol.21(5), pp.565-578
10/2008
DOI: 10.1111/j.1755-148X.2008.00482.x
PMCID: PMC2862261
PMID: 18715234
Abstract
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 sixteen 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.
Details
- Title: Subtitle
- Iris phenotypes and pigment dispersion caused by genes influencing pigmentation
- Creators
- Michael G Anderson - Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IowaNorman L Hawes - The Jackson Laboratory, Bar Harbor, MaineColleen M Trantow - Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IowaBo Chang - The Jackson Laboratory, Bar Harbor, MaineSimon W.M John - The Jackson Laboratory, Bar Harbor, Maine
- Resource Type
- Journal article
- Publication Details
- Pigment cell and melanoma research, Vol.21(5), pp.565-578
- DOI
- 10.1111/j.1755-148X.2008.00482.x
- PMID
- 18715234
- PMCID
- PMC2862261
- ISSN
- 1755-1471
- eISSN
- 1755-148X
- Language
- English
- Date published
- 10/2008
- Academic Unit
- Molecular Physiology and Biophysics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984025427602771
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