Evidence from thiol histochemistry for homology between the Tabby-crinkled syndrome in mice and human ectodermal dysplasia.
Mutant mice carrying the sex-linked gene Tabby (Ta), and others carrying crinkled (cr), an autosomal mimic of Ta, were studied histochemically with respect to the sulfhydryl: disulfide ratios in their skin and hair and the SH levels in their tooth germs. As compared to normal controls, the mutant animals demonstrated significantly elevated SH:S-S ratios (skin and hair) and SH levels (tooth germs) in the ectodermal components of these tissues. This finding corresponds with previously reported biochemical data on a form of human ectodermal dysplasia (ED), and therefore supports the hypothesis that these mutations in mice may be homologous to the genes for human ED.
D000818:Animals; D004220:Disulfides / Q000032:analysis*; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000378:metabolism*; D005333:Fetus / Q000378:metabolism; D006197:Hair / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D008301:Maleimides; D051379:Mice; D008817:Mice, Mutant Strains; D008856:Microscopy, Fluorescence; D011336:Probability; D012376:Rodent Diseases / Q000235:genetics / Q000378:metabolism*; D012867:Skin / Q000378:metabolism*; D013438:Sulfhydryl Compounds / Q000032:analysis*; D014083:Tooth Germ / Q000378:metabolism
D004220:Disulfides; D008301:Maleimides; D013438:Sulfhydryl Compounds; C019347:N-(7-dimethylamino-4-methylcoumarinyl)maleimide