title: Myelin deficiency in female rats due to a mutation in the PLP gene.
abstract: Myelin deficiency (md) in female rats due to a mutation in the X-linked proteolipid protein (PLP) gene is caused by X-chromosome monosomy. Cytogenetic analysis revealed a single X karyotype [41,X(md/0)]. An immunocytochemical, electron microscopic, and biochemical study was performed on male and female md rats. The central nervous system (CNS) of the female md rat [41,X(md/0)] revealed the same total lack of PLP as the CNS of the affected male littermate [42,XY(md/Y)]. Immunocytochemistry for myelin basic protein (MBP), myelin-associated glycoprotein (MAG), and 2',3'-cyclic nucleotide-3'-phosphodiesterase (CNP) revealed "islands" of myelin sheath-like reaction product in both. Electron microscopy showed great paucity of compact myelin sheaths in 41,X(md/0) and 42,XY(md/Y). Reduced levels of MPB, MAG, and CNP were confirmed for both sexes but MAG and CNP were substantially higher in 41,X(md/0). Sexual differentiation of the brain may account for the observed differences since normal female reproductive organs are present in the md female rat.
authors.affiliation: Research Service (Neurology), Department of Veterans Affairs Medical Center, Albany, NY 12208.
authors.forename: A H
authors.initials: AH
authors.lastname: Koeppen
authors.forename: C K
authors.initials: CK
authors.lastname: Csiza
authors.forename: A M
authors.initials: AM
authors.lastname: Willey
authors.forename: M
authors.initials: M
authors.lastname: Rønne
authors.forename: K D
authors.initials: KD
authors.lastname: Barron
authors.forename: R E
authors.initials: RE
authors.lastname: Dearborn
authors.forename: C G
authors.initials: CG
authors.lastname: Hurwitz
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism; D002843:Chromatin / Q000378:metabolism; D003711:Demyelinating Diseases / Q000503:physiopathology*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D007150:Immunohistochemistry; D007621:Karyotyping; D008297:Male; D008854:Microscopy, Electron; D009006:Monosomy; D009154:Mutation; D009186:Myelin Sheath / Q000502:physiology*; D010641:Phenotype; D011510:Proteolipids / Q000096:biosynthesis / Q000235:genetics*; D051381:Rats; D014960:X Chromosome
chemical_list: D002843:Chromatin; D011510:Proteolipids