Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting.
Knockout mice lacking glycosyltransferases or sulfotransferases provide unequivocal evidence that the carbohydrate moieties of glycoproteins, glycolipids, and proteoglycans play essential roles in various biological phenomena such as development, the immune response, and tissue functions. Examples of abnormalities of null mutants include arrest of embryogenesis due to deletion of N-acetylglucosaminyltransferase I or glucosylceramide synthase, failure of kidney formation in heparan sulfate 2-O-sulfotransferase deficiency, suppressed antibody production in alpha-2, 6-sialyltransferase deficiency, male sterility in GM2/GD2 synthase deficiency, and abnormalities in the function and stability of myelin in galactosylceramide deficiency.
Muramatsu
T
T
Department of Biochemistry, Nagoya University School of Medicine, Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. tmurama@tsuru.med. nagoya-u.ac.jp
D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D050260:Carbohydrate Metabolism; D002240:Carbohydrate Sequence; D002241:Carbohydrates / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005699:Galactosylceramides / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D005964:Glucosyltransferases / Q000235:genetics / Q000378:metabolism; D007248:Infertility, Male / Q000235:genetics; D007668:Kidney / Q000002:abnormalities / Q000196:embryology; D007962:Leukocytes / Q000502:physiology; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics / Q000378:metabolism; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics / Q000378:metabolism; D009928:Organ Specificity; D015238:Sulfotransferases / Q000235:genetics / Q000378:metabolism; D000097763:Polypeptide N-acetylgalactosaminyltransferase
D002241:Carbohydrates; D005699:Galactosylceramides; D005964:Glucosyltransferases; D017350:N-Acetylgalactosaminyltransferases; D017351:N-Acetylglucosaminyltransferases; D015238:Sulfotransferases; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C024850:alpha-1,3-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase I; C023246:ceramide glucosyltransferase; C023220:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase; C106358:heparan-sulfate 2-sulfotransferase