A molecular study of congenital erythropoietic porphyria in cattle

Jørgen Steen Agerholm; Peter Waaben Thulstrup; Morten Jannik Bjerrum; Christian Bendixen; Claus Bøttcher Jørgensen; Merete Fredholm

doi:10.1111/j.1365-2052.2011.02228.x

A molecular study of congenital erythropoietic porphyria in cattle

Jørgen Steen Agerholm, Peter Waaben Thulstrup, Morten Jannik Bjerrum, Christian Bendixen, Claus Bøttcher Jørgensen, Merete Fredholm

Department of Chemistry

4 Citations (Scopus)

Abstract

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 language	English
Journal	Animal Genetics
Volume	43
Issue number	2
Pages (from-to)	210-215
Number of pages	6
ISSN	0268-9146
DOIs	https://doi.org/10.1111/j.1365-2052.2011.02228.x
Publication status	Published - Apr 2012

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title = "A molecular study of congenital erythropoietic porphyria in cattle",

abstract = "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.",

author = "Agerholm, {J{\o}rgen Steen} and Thulstrup, {Peter Waaben} and Bjerrum, {Morten Jannik} and Christian Bendixen and J{\o}rgensen, {Claus B{\o}ttcher} and Merete Fredholm",

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doi = "10.1111/j.1365-2052.2011.02228.x",

language = "English",

volume = "43",

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T1 - A molecular study of congenital erythropoietic porphyria in cattle

AU - Agerholm, Jørgen Steen

AU - Thulstrup, Peter Waaben

AU - Bjerrum, Morten Jannik

AU - Bendixen, Christian

AU - Jørgensen, Claus Bøttcher

AU - Fredholm, Merete

PY - 2012/4

Y1 - 2012/4

N2 - 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.

AB - 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.

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DO - 10.1111/j.1365-2052.2011.02228.x

M3 - Journal article

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SN - 0268-9146

VL - 43

SP - 210

EP - 215

JO - Animal Genetics

JF - Animal Genetics

IS - 2

ER -

A molecular study of congenital erythropoietic porphyria in cattle

Abstract

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