title: Embryonic mortality attributed to inherited deficiency of uridine monophosphate synthase.
abstract: The deficiency of uridine-5'-monophosphate synthase is inherited as an autosomal recessive trait in Holstein-Friesian cattle. Heterozygotes are characterized by half normal activity of uridine monophosphate synthase, as measured in erythrocytes. Matings between heterozygotes for the deficiency have produced 31 pregnancies lasting at least one month, but only 23 full-term calves, including 9 homozygous normal and 14 heterozygotes. That the eight embryos were not carried to term is consistent with the probability of a homozygous-deficient genotype and are lost around 40 d of gestation. Although the homozygous deficiency of uridine monophosphate synthase is lethal embryonically in cattle, homozygotes for the analogous human condition have been born alive.
authors.affiliation: University of Illinois, Department of Animal Sciences, Urbana 61801.
authors.forename: R D
authors.initials: RD
authors.lastname: Shanks
authors.forename: J L
authors.initials: JL
authors.lastname: Robinson
mesh_terms: D000818:Animals; D001835:Body Weight; D002262:Carboxy-Lyases / Q000172:deficiency*; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005838:Genotype; D006400:Hematocrit / Q000662:veterinary; D006579:Heterozygote; D006720:Homozygote; D007178:Inbreeding; D008297:Male; D009097:Multienzyme Complexes / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D009962:Orotate Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D010430:Pentosyltransferases / Q000172:deficiency*; D011247:Pregnancy; D012744:Sex Ratio
chemical_list: D009097:Multienzyme Complexes; C027157:uridine 5'-monophosphate synthase; D010430:Pentosyltransferases; D009962:Orotate Phosphoribosyltransferase; D002262:Carboxy-Lyases; D009964:Orotidine-5'-Phosphate Decarboxylase