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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2001-1-22
pubmed:abstractText
Mutations that affect the balance between the synthesis of eumelanin and pheomelanin provide a powerful set of tools with which to understand general aspects of cell signaling. Previous work from our laboratory has demonstrated that pheomelanin synthesis is triggered by the ability of Agouti protein to inhibit signaling through the Melanocortin 1 receptor (Mc1r). In a bioassay based on the Xenopus Mc1r, Agouti protein has two effects, competitive inhibition of receptor occupancy by alpha-MSH and down-regulation of receptor signaling, which are mediated separately by domains in the amino- and carboxy-terminal regions of Agouti protein, respectively. Recently, we have used the genetics of pigmentation as an in vivo system to screen for and analyze other mutations in the Agouti-melanocortin pathway. The pigmentary effects of Agouti are suppressed by the previously existing coat-color mutations mahogany (mg), mahoganoid (md), and Umbrous (U). Double mutant studies, with animals deficient for the Mc1r or those which carry Ay, indicate that mg and md are genetically upstream of the Mc1r, and can suppress the effects of Ay on both pigmentation and body weight. Positional cloning has recently identified the gene mutated in mahogany as a single transmembrane-spanning protein whose ectodomain is orthologous to human Attractin (Atrn).
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0893-5785
pubmed:author
pubmed:issnType
Print
pubmed:volume
13 Suppl 8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
48-53
pubmed:dateRevised
2010-5-19
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Biochemical and genetic studies of pigment-type switching.
pubmed:affiliation
Department of Pediatrics and Genetics, and the HHMI, Stanford University School of Medicine, California 94305, USA. gbarsh@cmgm.stanford.edu
pubmed:publicationType
Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't, Lectures