International Mammalian Genome Society


The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

D14 Genomic Structure of the Mouse Ap3b1 Gene

Brian W. Rigatti1, Lijun Feng2, Edward, K. Novak3, Richard T. Swank2 and Michael B. Gorin3. Department of Ophthalmology, University of Pittsburgh, Pittsburgh, PA 15213; 2Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263; 3Departments of Human Genetics and Ophthalmology, University of Pittsburgh, Pittsburgh, PA 15213

The pearl (pe) mouse is a hypopigmentation mutant and a model for human Hermansky-Pudlak Syndrome (HPS). It has been determined that the pearl phenotype arises from mutation in the Ap3b1 gene, which encodes the b3A subunit of the AP-3 adaptor complex, which in turn regulates vesicular trafficking. It has been demonstrated that depletion of the b3A subunit in the pearl mouse results in the depletion of the whole AP-3 adaptor complex which in turn leads to abnormalities of biogenesis/function of subcellular organelles like lysosomes, melanosomes and platelet dense granules. Also the initial pe mutant allele that arose on the C3H/HeJ background has an unusually high reversion rate. Recently, two HPS patients were found to have mutations in this gene. Here we report the definition of the genomic structure of the mouse Ap3b1 gene. A total of 26 introns, which covers about 95% of the gene, have been defined with some uncertainty at the 5' of the gene. Most intron/exon boundaries were defined by a vector-bubble PCR method, and some were defined by direct BAC sequencing with internal primers derived from cDNA. All 26 introns follow the GU-AG rules. The intron sizes range from 0.2kb to 10 kb or more. Genomic analysis of the pe mutation to explore the mechanism of the high reversion rate is ongoing. Determination of the genomic structure of the human Ap3b1 gene is also underway.


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