Feng L, Rigatti B W, Novak E K, Gorin M B, Swank R T
Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA.
Genomics. 2000 Nov 1;69(3):370-9. doi: 10.1006/geno.2000.6350.
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).
小鼠色素减退突变体珍珠是Hermansky-Pudlak综合征（HPS）的既定模型，HPS是一种基因异质性疾病，其黑素小体、溶酶体和血小板致密颗粒的生物发生/功能失调。珍珠（Ap3b1）基因编码AP-3衔接复合体的β3A亚基，该亚基调节囊泡运输。正常Ap3b1基因的基因组结构包括25个内含子和一个推定的启动子序列。最初的珍珠（pe）突变在某些品系背景下具有异常高的回复率，据推测是由转座元件插入引起的。实际上，该突变在6个外显子和相关内含子的大串联基因组重复的连接点处包含一个215 bp的部分小鼠转座子。在cDNA水平上，三个珍珠突变（珍珠、珍珠-8J和珍珠-9J）是由一个完整外显子的缺失或重复引起的。
