title: Genomic structure of the mouse Ap3b1 gene in normal and pearl mice.
abstract: The mouse hypopigmentation mutant pearl is an established model for Hermansky-Pudlak syndrome (HPS), a genetically heterogenous disease with misregulation of the biogenesis/function of melanosomes, lysosomes, and platelet dense granules. The pearl (Ap3b1) gene encodes the beta3A subunit of the AP-3 adaptor complex, which regulates vesicular trafficking. The genomic structure of the normal Ap3b1 gene includes 25 introns and a putative promoter sequence. The original pearl (pe) mutation, which has an unusually high reversion rate on certain strain backgrounds, has been postulated to be caused by insertion of a transposable element. Indeed, the mutation contains a 215-bp partial mouse transposon at the junction point of a large tandem genomic duplication of 6 exons and associated introns. At the cDNA level, three pearl mutations (pearl, pearl-8J, and pearl-9J) are caused by deletions or duplications of a complete exon(s).
authors.affiliation: Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA.
authors.forename: L
authors.initials: L
authors.lastname: Feng
authors.forename: B W
authors.initials: BW
authors.lastname: Rigatti
authors.forename: E K
authors.initials: EK
authors.lastname: Novak
authors.forename: M B
authors.initials: MB
authors.lastname: Gorin
authors.forename: R T
authors.initials: RT
authors.lastname: Swank
mesh_terms: D033965:Adaptor Protein Complex alpha Subunits; D033942:Adaptor Proteins, Vesicular Transport; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary; D005091:Exons; D017353:Gene Deletion; D020440:Gene Duplication; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D017496:Hypopigmentation / Q000235:genetics*; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D034041:Monomeric Clathrin Assembly Proteins; D009154:Mutation; D012313:RNA; D020080:Tandem Repeat Sequences
chemical_list: D033965:Adaptor Protein Complex alpha Subunits; D033942:Adaptor Proteins, Vesicular Transport; D018076:DNA, Complementary; D008565:Membrane Proteins; D034041:Monomeric Clathrin Assembly Proteins; C439023:clathrin assembly protein AP180; D012313:RNA