| First Author | Feng L | Year | 2000 |
| Journal | Genomics | Volume | 69 |
| Issue | 3 | Pages | 370-9 |
| PubMed ID | 11056055 | Mgi Jnum | J:65643 |
| Mgi Id | MGI:1927005 | Doi | 10.1006/geno.2000.6350 |
| Citation | Feng L, et al. (2000) Genomic structure of the mouse ap3b1 gene in normal and pearl mice. Genomics 69(3):370-9 |
| abstractText | The mouse hypopigmentation mutant pearl is an established model for Hermansky-Pudlak syndrome (HPS), a genetically heterogeneous 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). Copyright 2000 Academic Press. |
