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Publication : Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

First Author  Perou CM Year  1996
Journal  Proc Natl Acad Sci U S A Volume  93
Issue  12 Pages  5905-9
PubMed ID  8650191 Mgi Jnum  J:33544
Mgi Id  MGI:81023 Doi  10.1073/pnas.93.12.5905
Citation  Perou CM, et al. (1996) Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci U S A 93(12):5905-9
abstractText  Chediak-Higashi syndrome in man and the beige mutation of mice are phenotypically similar disorders that have profound effects upon lysosome acid melanosome morphology and function. We isolated two murine yeast artificial chromosomes (YACs) that, when introduced into beige mouse fibroblasts, complement the beige mutation. The complementing YACs exist as extrachromosomal elements that are amplified in high concentrations of G418. When YAC- complemented beige cells were fused to human Chediak- Higashi syndrome or Aleutian mink fibroblasts, complementation of the mutant phenotype also occurred, These results localize the beige gene to a 500-kb interval and demonstrate that the same or homologous genes are defective in mice, minks, and humans.
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