RGD Reference Report - Genomic structure of the mouse Ap3b1 gene in normal and pearl mice. - Rat Genome Database

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Genomic structure of the mouse Ap3b1 gene in normal and pearl mice.

Authors: Feng, L  Rigatti, BW  Novak, EK  Gorin, MB  Swank, RT 
Citation: Feng L, etal., Genomics. 2000 Nov 1;69(3):370-9.
RGD ID: 11087577
Pubmed: PMID:11056055   (View Abstract at PubMed)
DOI: DOI:10.1006/geno.2000.6350   (Journal Full-text)

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).



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AP3B1HumanHermansky-Pudlak syndrome  ISOAp3b1 (Mus musculus)DNA:duplication more ...RGD 
Ap3b1RatHermansky-Pudlak syndrome  ISOAp3b1 (Mus musculus)DNA:duplication more ...RGD 
Ap3b1MouseHermansky-Pudlak syndrome  IAGP DNA:duplication more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ap3b1  (adaptor related protein complex 3 subunit beta 1)

Genes (Mus musculus)
Ap3b1  (adaptor-related protein complex 3, beta 1 subunit)

Genes (Homo sapiens)
AP3B1  (adaptor related protein complex 3 subunit beta 1)


Additional Information