Work

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

Year: 1996

Type: article

Abstract: Chédiak-Higashi syndrome in man and the beige mutation of mice are phenotypically similar disorders that have profound effects upon lysosome and 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 Chédiak-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.

Source: Proceedings of the National Academy of Sciences

DOI: 10.1073/pnas.93.12.5905

Authors: C M Perou, M J Justice, R J Pryor, J Kaplan

Institutions: University of Utah, Oak Ridge National Laboratory

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Cancer Institute, National Institute of General Medical Sciences

Awards: G2214234612, G4751928008, Training Program in Genetics, G51558179