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Identification of a mutation in the ovine uroporphyrinogen decarboxylase ( UROD ) gene associated with a type of porphyria
Author(s) -
Nezamzadeh R.,
Seubert A.,
Pohlenz J.,
Brenig B.
Publication year - 2005
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2005.01301.x
Subject(s) - uroporphyrinogen iii decarboxylase , porphyria , biology , porphyria cutanea tarda , genetics , mutation , gene , acute intermittent porphyria , endocrinology , heme , biochemistry , enzyme
Summary Porphyria is a group of at least eight diseases caused by abnormalities in the chemical steps that lead to haeme production. The different types of porphyria show different signs and symptoms and can be strongly influenced by environmental factors. Mutations of the uroporphyrinogen decarboxylase ( UROD ) gene have been shown to be causative for porphyria cutanea tarda (PCT) in humans. Porphyria is a rare disorder in livestock. Although disorders of haeme biosynthesis have been described in cattle, pigs, sheep and cats, PCT has only been reported in pigs. We observed typical signs of porphyria (photosensitivity and porphyrinuria) in a flock of German Blackface sheep and postulated that the porphyria could be caused by a mutation in the UROD gene. To investigate this, we cloned and sequenced the ovine UROD gene. We identified a single point mutation (C → T) in UROD which leads to an amino acid substitution at Leu131Pro, which is located within the active cleft site of the UROD protein.