RESUMO
The quaking(viable) (qkv) mutation, a spontaneous deletion of a multigenic region encompassing roughly 1 Mb at 5.9 cM on the proximal end of mouse chromosome 17, causes severe trembling in all homozygous animals and infertility in all homozygous males. Physiologically, quaking mice exhibit dysmyelination and postmeiotic spermatogenic arrest. Molecular defects in Qkv mice occur in the affected tissues, indicating the primary causes of these pathologies are cell autonomous. However, because both the reproductive and neurological defects are in immune-privileged sites and because some similar pathologies at both sites have been shown to be immune mediated, we tested whether the immune system participates secondarily in manifestation of Qkv phenotypes. The qkv mutation was bred into a severe combined immune-deficient mouse line (SCID; devoid of mature B and T cells) and penetrance of the neurological and the male sterile phenotypes was measured. Results showed that neither defect was ameliorated in the immune-deficient background. We conclude that the Qkv pathologies do not likely involve a B- or T-cell-dependent response against these immune-privileged sites.
Assuntos
Camundongos Quaking/genética , Camundongos Quaking/imunologia , Camundongos SCID/genética , Camundongos SCID/imunologia , Animais , Sequência de Bases , DNA Complementar/genética , Doenças Desmielinizantes/genética , Doenças Desmielinizantes/imunologia , Feminino , Infertilidade Masculina/genética , Infertilidade Masculina/imunologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos NOD , Camundongos Quaking/fisiologia , Camundongos SCID/fisiologia , Fenótipo , Gravidez , Reprodução/genética , Reprodução/imunologia , Espermatogênese/genética , Espermatogênese/imunologiaAssuntos
Autoanticorpos/análise , Encéfalo/imunologia , Esclerose Múltipla/imunologia , Animais , Especificidade de Anticorpos , Autoanticorpos/líquido cefalorraquidiano , Testes de Fixação de Complemento , Humanos , Hibridização Genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos CBA , Camundongos Jimpy/imunologia , Camundongos Quaking/imunologia , Bainha de Mielina/imunologiaRESUMO
Immunohistochemical localization of Wolfgram proteins has been studied by the indirect immunoperoxidase technique with Wolfgram protein W1 antibodies in the nervous system of myelin deficient mutant mice: Jimpy, MSD and Quaking. In all these mutants, the myelinated fibers and the oligodendroglial cells (few in number) in the corpus callosum and the white matter of the cerebellum folium show a positive reaction to protein W1. These observations are in accordance with the immunological studies showing that the two major Wolfgram proteins, W1 and W2, of mutant mice have immunological similarities with that of the controls.