ISOLATION OF THE BOVINE URIDINE MONOPHOSPHATE SYNTHASE GENE TO IDENTIFY THE MOLECULAR-BASIS OF DUMPS IN CATTLE

To detect the mutation causing the autosomal recessive defect DUMPS (D eficieny of Uridine Mono-Phosphate Synthase) in cattle, the cDNA encod ing bovine UMPS was isolated and sequenced. In heterozygous DUMPS carr iers, a point mutation was identified introducing a premature stop cod on. The DNA test was distributed to 15 laboratories in 12 countries up on request. The homozygous lethal genotype was detected with a modifie d DNA test among in vitro produced embryos. The gene covers more;han 2 5 kb with 6 exons and 5 introns. Exon 3 is 672 bp long and may indicat e the loss of an intron during evolution. The gene encoding bovine UMP S has been assigned to chromosome 1q31 by in situ hybridisation and wa s mapped genetically using a TaqI-RFLP. An SSCP was detected in the ar ea surrounding the connector peptide and is useful as a marker for lin kage studies.