Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species

Somat Cell Mol Genet. 1993 Sep;19(5):459-68. doi: 10.1007/BF01233251.

Abstract

Chediak-Higashi Syndrome is an autosomal recessive disorder, characterized by the presence of large intracellular granules, particularly lysosomes and melanosomes. While the Chediak-Higashi Syndrome is a rare disorder in humans, phenotypically similar syndromes are found in other species. Fusion of normal fibroblasts to Chediak fibroblasts complements the Chediak disorder, restoring normal lysosome size and distribution. Fusion of wild-type with Chediak fibroblasts from human, mouse, or mink demonstrates that wild-type fibroblasts can complement any of the Chediak fibroblasts. Complementation was not observed in interspecific hybrids between Chediak fibroblasts from these species, suggesting that the same gene product is defective in humans, mice, and mink.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Fusion
  • Cells, Cultured
  • Chediak-Higashi Syndrome / genetics*
  • Genes
  • Genetic Complementation Test
  • Humans
  • Lysosomes / physiology
  • Mice
  • Mice, Inbred C57BL / genetics
  • Mice, Mutant Strains / genetics
  • Mink / genetics
  • Species Specificity