title: The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice.
abstract: Mutations affecting developmental processes may allow some insight into the complexity of the biological processes involved. In mice, two mutants that affect myelin formation in the central nervous system, jimpy and shiverer, have proved to be useful models for the study of this process. The predominant proteins in myelin are the major myelin proteolipid (PLP) and the myelin basic proteins (MBP), which together account for 80-90% of total myelin proteins. It has recently been shown that the shiverer mutation is located in the MBP structural gene, but the site of the jimpy mutation, which is X-chromosome-linked and may be similar to the sex-linked dismyelinization human disease, Pelizaeus-Merzbacher disease, remains unclear. Here we provide evidence, based on a combined genetic and biochemical approach, that the sex-linked recessive mutation jimpy is located in the structural gene coding for PLP.
mesh_terms: D000818:Animals; D001923:Brain Chemistry; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005260:Female; D005796:Genes; D006238:Haploidy; D007621:Karyotyping; D008297:Male; D051379:Mice; D008816:Mice, Jimpy / Q000235:genetics*; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000032:analysis; D014960:X Chromosome
chemical_list: D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D012333:RNA, Messenger; D004247:DNA; D004262:DNA Restriction Enzymes