A molecular study of congenital erythropoietic porphyria in cattle

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  • J S Agerholm, Københavns Universitet, Denmark
  • P W Thulstrup, Københavns Universitet, Denmark
  • M J Bjerrum, Københavns Universitet, Denmark
  • Christian Bendixen
  • C B Jørgensen, Københavns Universitet, Denmark
  • M Fredholm, Københavns Universitet, Denmark
Previous studies have shown that congenital erythropoietic porphyria (CEP) in cattle is caused by an inherited deficiency of the enzyme uroporphyrinogen III synthase (UROS) encoded by the UROS gene. In this study, we have established the pedigree of an extended Holstein family in which the disease is segregating in a manner consistent with autosomal recessive inheritance. Biochemical analyses demonstrated accumulation of uroporphyrin, thus confirming that it is indeed insufficient activity of UROS which is the cause of the disease. We have therefore sequenced all nine exons of UROS in affected and non-affected individuals without detecting any potential causative mutations. However, a single nucleotide polymorphism (SNP) located within the spliceosome attachment region in intron 8 of UROS is shown to segregate with the disease allele. Our study supports the hypothesis that CEP in cattle is caused by a mutation affecting UROS; however, additional functional studies are needed to identify the causative mutation
Original languageEnglish
JournalAnimal Genetics
Pages (from-to)210-215
Publication statusPublished - Apr 2012

    Research areas

  • cattle, porphyria, uroporphyrinogen III synthase

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