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Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

Hudson, L. D. and Puckett, C. and Berndt, J. and Chan, J. and Gencic, S. (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proceedings of the National Academy of Sciences of the United States of America, 86 (20). pp. 8128-8131. ISSN 0027-8424. PMCID PMC298228. doi:10.1073/pnas.86.20.8128.

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Myelin is a highly specialized membrane unique to the nervous system that ensheaths axons to permit the rapid saltatory conduction of impulses. The elaboration of a compact myelin sheath is disrupted in a diverse spectrum of human disorders, many of which are of unknown etiology. The X chromosome-linked human disorder Pelizaeus-Merzbacher disease is a clinically and pathologically heterogeneous group of disorders that demonstrate a striking failure of oligodendrocyte differentiation. This disease appears pathologically and genetically to be similar to the disorder seen in the dysmyelinating mouse mutant jimpy, which has a point mutation in the gene encoding an abundant myelin protein, proteolipid protein (PLP). We report that the molecular defect in one Pelizaeus-Merzbacher family is likewise a point mutation in the PLP gene. A single T → C transition results in the substitution of a charged amino acid residue, arginine, for tryptophan in one of the four extremely hydrophobic domains of the PLP protein. The identification of a mutation in this Pelizaeus-Merzbacher family should facilitate the molecular classification and diagnosis of these X chromosome-linked human dysmyelinating disorders.

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Additional Information:© 1989 by the National Academy of Sciences. Communicated by D. Carleton Gajdusek, July 17, 1989 (received for review February 6, 1989). We thank Dr. R. Lazzarini for continued support, Drs. A. Koeppen and D. Farrell for helpful discussions, Dr. D. Farrell for supplying the PM1 fibroblasts, Dr. J. Weis for supplying the normal human genomic library, Drs. J. Garbern and C. Jordan for computer assistance, P. Kelly for synthesizing oligonucleotides, and Drs. H. Arnheiter, R. McKinnon, J. Garbern, and N. Nadon for critically reviewing the manuscript. S.G. gratefully acknowledges the funding of the Deutsche Forschungsgemeinschaft. The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.
Subject Keywords:human dysmyelinatina disease; Pelizaeus-Merzbacher disease
Issue or Number:20
PubMed Central ID:PMC298228
Record Number:CaltechAUTHORS:HUDpnas89
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:7546
Deposited By: Tony Diaz
Deposited On:02 Mar 2007
Last Modified:08 Nov 2021 20:43

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