Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes
- Univ. of Utah, Salt Lake City, UT (United States)
- Oak Ridge National Labortory, TN (United States)
Chediak-Higashi syndrome in man and the beige mutation of mice are phenotypically similar disorders that have profound effects upon lysosome and melansosome 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. 16 refs., 5 figs.
- OSTI ID:
- 457014
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America, Vol. 93, Issue 12; Other Information: PBD: 11 Jun 1996
- Country of Publication:
- United States
- Language:
- English
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