International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 179 - THE GENE FOR THE MUTED MOUSE, A MODEL FOR HERMANSKY-PUDLAK SYNDROME, DEFINES A NOVEL PROTEIN WHICH REGULATES VESICLE TRAFFICKING

Dr Richard Swank
Roswell Park Cancer Inst.
Dept of Molec. & Cell. Biol.
Elm & Carlton Sts.
Buffalo
NY 14263
USA

Co-Authors: 1)Zhang Q, 1)Li W, 1)Novak EK, 1)Karim A, 2)Mishra V, 3)Kingsmore S, 4)Roe B
Institutions: 1)Dept of Molecular & Cell Biology, Roswell Park Cancer Institute 2)Dept of Medicine, University of Florida, 3)Molecular Staging, 4)Dept of Chemistry & Biochemistry, University of Oklahoma

The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder causing hypopigmentation, hemorrhaging and early death due to lung abnormalities. The muted gene regulates the synthesis of specialized mammalian organelles such as melanosomes, platelet dense granules and lysosomes.  Further, balance defects indicate it controls the synthesis of otoliths of the inner ear.  The mu gene has been identified by a positional/candidate approach involving large mouse interspecific backcrosses.  It encodes a novel, ubiquitously expressed transcript specifying a 185 amino acid protein whose expression is abrogated in the mu  allele which contains an insertion of an ETn retrotransposon.  Expression is likewise expected to be lost in the muJ allele which contains a deletion of a single base pair within the coding region.  The muted gene is present only in mice and humans among analyzed genomes.  As is true for other recently identified mouse HPS genes, the muted gene is present in both mice and humans but is absent in lower eukaryotes.  Therefore, the mu gene is a member of the novel gene set that has evolved in higher eukaryotes to regulate the synthesis/function of highly specialized subcellular organelles such as melanosomes and platelet dense granules.


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