期刊
GENOMICS
卷 69, 期 3, 页码 370-379出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1006/geno.2000.6350
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资金
- NCRR NIH HHS [RR01183] Funding Source: Medline
- NEI NIH HHS [EY12104] Funding Source: Medline
- NHLBI NIH HHS [HL31698] Funding Source: Medline
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 beta 3A 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). (C) 2000 Academic Press.
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