Homologous Pigmentation Mutations in Human, Mouse and Other Model Organisms

Mouse coat colour genes have long been studied as a paradigm for genetic interactions in development. A number of these genes have been cloned and most correspond to human genetic disease loci. The proteins encoded by these genes include transcription factors, receptor tyrosine kinases and growth fa...

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Bibliographic Details
Published in:Human molecular genetics 1997-01, Vol.6 (10), p.1613-1624
Main Author: JACKSON, I. J
Format: Article
Language:English
Subjects:
Agouti Signaling Protein
Amino Acid Sequence
Animals
Biological and medical sciences
Classical genetics, quantitative genetics, hybrids
Fundamental and applied biological sciences. Psychology
Genetic Diseases, Inborn - genetics
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Hair Color - genetics
Human
Humans
Intercellular Signaling Peptides and Proteins
Melanins - genetics
Melanins - metabolism
Mice
Molecular Sequence Data
Mutation
Pigmentation - genetics
Proteins - genetics
Receptors, Corticotropin - chemistry
Receptors, Corticotropin - genetics
Receptors, Melanocortin
Sequence Alignment
Citations: Items that cite this one
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Summary:Mouse coat colour genes have long been studied as a paradigm for genetic interactions in development. A number of these genes have been cloned and most correspond to human genetic disease loci. The proteins encoded by these genes include transcription factors, receptor tyrosine kinases and growth factors, G-protein coupled receptors and their ligands, membrane proteins, structural proteins and enzymes. Many of the mutations have pleiotropic effects, indicating that these proteins play a wider role in developmental or cellular processes. In this review I tabulate the available data on all pigmentation genes cloned from mouse or human, and I focus on three particular systems. One family of genes, including LYST and HPS/ep, shows the relationship between melanosomes and lysosomes. The G-protein coupled receptor, endothelin receptor-B, and its ligand, endothelin-3, are required for the development of both melanocytes and enteric neurons. The melanocortin-1 receptor is expressed only on melanocytes, but mutations that cause overexpression of agouti protein, an antagonist of the receptor, result in obesity, and highlight a role of melanocortins in weight homoeostasis.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/6.10.1613