Biochemical genetics of glycogenosis type II in Brahman cattle.
Glycogenosis type II is an inherited lysosomal storage disorder caused by acid alpha-glucosidase deficiency. The disorder is inbred in Brahman cattle, and the incidence of carriers in Australian herds averages 15%. Affected animals are lethargic and die typically in the eighth or ninth month after birth. A complete lack of acid alpha-glucosidase synthesis was demonstrated in cultured fibroblasts and muscle tissue of affected animals. Moreover, the tissue was found to be devoid of acid alpha-glucosidase mRNA. Gross abnormalities of the acid alpha-glucosidase gene itself were not detected by Southern blot analysis. These results suggest Brahman glycogenosis type II to be caused by a point mutation or a micro deletion/insertion in the acid alpha-glucosidase gene.
Wisselaar
H A
HA
Dept. of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Hermans
M M
MM
Visser
W J
WJ
Kroos
M A
MA
Oostra
B A
BA
Aspden
W
W
Harrison
B
B
Hetzel
D J
DJ
Reuser
A J
AJ
Drinkwater
R D
RD
D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000235:genetics*; D002418:Cattle Diseases / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D005796:Genes; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D008247:Lysosomes / Q000201:enzymology; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D000520:alpha-Glucosidases / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D000520:alpha-Glucosidases