Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome

American Journal of Medical Genetics
J D Penner, D J Prieur

Abstract

Although the autosomal recessive disease Chediak-Higashi syndrome (CHS) has been described in humans, cats, mink, cattle, mice, killer whales, blue foxes, and silver foxes, and these conditions appear quite similar, no direct evidence of the homology of this disease in the various species has been presented. To determine if CHS in humans, cats, mink, cattle, and mice is due to a mutant gene at the homologous genetic locus in each species, or alternatively, if these are merely similar syndromes, genetic complementation analysis after interspecific somatic cell (fibroblast) hybridization was performed. "Paracrystal" formation was the criterion used for the determination of complementation. The initial studies in this report were designed to characterize paracrystal formation in control and CHS fibroblasts of these five species. Most of the control fibroblasts from each species (91-96.6%) formed paracrystals upon incubation with 25 micrograms/ml of the microtubule depolymerizing agent vinblastine sulfate. A significantly (P less than 0.05) smaller percentage of the CHS fibroblasts formed paracrystals after the same incubation (except CHS mice, with 90.2% paracrystals). It was found that 52% of the human CHS fibroblasts, 60% of cat...Continue Reading

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Citations

Nov 1, 1989·Somatic Cell and Molecular Genetics·A J Ahern-RindellD J Prieur
Nov 1, 1993·In Vitro Cellular & Developmental Biology. Animal·J B GowT A Lyerla
Jul 1, 1994·Acta Oto-laryngologica·D J CreelD J Prieur
Mar 1, 1988·Veterinary Pathology·J D Penner, D J Prieur
Jul 1, 1990·American Journal of Medical Genetics·M M Kahraman, D J Prieur
Mar 1, 1989·American Journal of Medical Genetics·M M Kahraman, D J Prieur
Sep 1, 1991·American Journal of Medical Genetics·M M Kahraman, D J Prieur

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