COMPLEMENTATION ANALYSIS OF CHEDIAK-HIGASHI-SYNDROME - THE SAME GENE MAY BE RESPONSIBLE FOR THE DEFECT IN ALL PATIENTS AND SPECIES

Chediak-Higashi Syndrome is an autosomal recessive disorder; character ized by the presence of large intracellular granules, particularly lys osomes and melanosomes. While the Chediak-Higashi Syndrome is a rare d isorder in humans, phenotypically similar syndromes are found in other species. Fusion of normal fibroblasts to Chediak fibroblasts compleme nts the Chediak disorder, restoring normal lysosome size and distribut ion. Fusion of wild-type with Chediak fibroblasts from human, mouse, o r mink demonstrates that wild-type fibroblasts can complement any of t he Chediak fibroblasts. Complementation was not observed in inter-spec ific hybrids between Chediak fibroblasts from these species, suggestin g that the same gene product is defective in humans, mice, and mink.