Myelin deficiency in female rats due to a mutation in the PLP gene.
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.
Koeppen
A H
AH
Research Service (Neurology), Department of Veterans Affairs Medical Center, Albany, NY 12208.
Csiza
C K
CK
Willey
A M
AM
Rønne
M
M
Barron
K D
KD
Dearborn
R E
RE
Hurwitz
C G
CG
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
D002843:Chromatin; D011510:Proteolipids