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Titolo:
Genomic structure of the mouse Ap3b1 gene in normal and pearl mice
Autore:
Feng, LJ; Rigatti, BW; Novak, EK; Gorin, MB; Swank, RT;
Indirizzi:
Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA Roswell Pk Canc Inst Buffalo NY USA 14263 lar Biol, Buffalo, NY 14263 USA Univ Pittsburgh, Dept Ophthalmol, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 thalmol, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 n Genet, Pittsburgh, PA 15213 USA
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 69, anno: 2000,
pagine: 370 - 379
SICI:
0888-7543(20001101)69:3<370:GSOTMA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HERMANSKY-PUDLAK-SYNDROME; AP-3 ADAPTER COMPLEX; EYED UNSTABLE MUTATION; PROTEIN COMPLEX; NONHOMOLOGOUS RECOMBINATION; HOMOLOGOUS RECOMBINATION; LOCUS HETEROGENEITY; SEQUENCE STATISTICS; SPLICE JUNCTIONS; HUMAN-DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Swank, RT Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Elm & Carlton St,Room 245,Cell & Virus Bldg, Buffalo, NY 14263 USA Roswell Pk Canc Inst Elm& Carlton St,Room 245,Cell & Virus Bldg Buffalo NY USA 14263
Citazione:
L.J. Feng et al., "Genomic structure of the mouse Ap3b1 gene in normal and pearl mice", GENOMICS, 69(3), 2000, pp. 370-379

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 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 11:58:25