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Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
Anim Genet. 2005 Aug; 36(4):297-302.AG

Abstract

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 Leu 131 Pro, which is located within the active cleft site of the UROD protein.

Authors+Show Affiliations

Institute of Veterinary Medicine, University of Göttingen,Göttingen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16026339

Citation

Nezamzadeh, R, et al. "Identification of a Mutation in the Ovine Uroporphyrinogen Decarboxylase (UROD) Gene Associated With a Type of Porphyria." Animal Genetics, vol. 36, no. 4, 2005, pp. 297-302.
Nezamzadeh R, Seubert A, Pohlenz J, et al. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. Anim Genet. 2005;36(4):297-302.
Nezamzadeh, R., Seubert, A., Pohlenz, J., & Brenig, B. (2005). Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. Animal Genetics, 36(4), 297-302.
Nezamzadeh R, et al. Identification of a Mutation in the Ovine Uroporphyrinogen Decarboxylase (UROD) Gene Associated With a Type of Porphyria. Anim Genet. 2005;36(4):297-302. PubMed PMID: 16026339.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. AU - Nezamzadeh,R, AU - Seubert,A, AU - Pohlenz,J, AU - Brenig,B, PY - 2005/7/20/pubmed PY - 2005/10/6/medline PY - 2005/7/20/entrez SP - 297 EP - 302 JF - Animal genetics JO - Anim. Genet. VL - 36 IS - 4 N2 - 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 Leu 131 Pro, which is located within the active cleft site of the UROD protein. SN - 0268-9146 UR - https://www.unboundmedicine.com/medline/citation/16026339/Identification_of_a_mutation_in_the_ovine_uroporphyrinogen_decarboxylase__UROD__gene_associated_with_a_type_of_porphyria_ L2 - https://doi.org/10.1111/j.1365-2052.2005.01301.x DB - PRIME DP - Unbound Medicine ER -