Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations
Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins...
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2012
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10967192_v105_n4_p629_Mendez http://hdl.handle.net/20.500.12110/paper_10967192_v105_n4_p629_Mendez |
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paper:paper_10967192_v105_n4_p629_Mendez2023-06-08T16:07:05Z Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations Mendez, Manuel Rossetti, María Victoria Parera, Victoria Estela Batlle, Alcira María del Carmen In silico analysis Mutation analysis Porphyria cutanea tarda Prokaryotic expression Uroporphyrinogen decarboxylase guanine nucleotide uroporphyrinogen decarboxylase valine amino acid sequence Argentina article clinical article familial disease female gene deletion gene insertion gene mutation heterozygosity human male molecular pathology polyadenylation porphyria cutanea tarda priority journal signal transduction Adolescent Adult Argentina Child Child, Preschool DNA Exons Female Genetic Predisposition to Disease Humans Introns Male Middle Aged Mutation Polymerase Chain Reaction Porphyria Cutanea Tarda Sequence Deletion Uroporphyrinogen Decarboxylase Young Adult Prokaryota Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene. In the present study we have found the molecular defect in seventeen unrelated Argentinean patients with F-PCT, identifying a total of eleven UROD gene mutations: four novel and seven previously described. The novel mutations were: a guanine insertion at the 5' splice junction of intron 2, a three nucleotide deletion causing the lost of valine 90, a deletion of 22. bp in exon 6 and a deletion of part of the polyadenylation signal. Prokaryotic expression studies showed that the novel amino acid deletion resulted in an inactive protein. Mutations c.10insA and p.M165R, previously found in Argentinean patients, were recurrent in this study; they are the most frequent in Argentina accounting for 40% of the mutant alleles characterized to date. © 2012 Elsevier Inc.. Fil:Méndez, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2012 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10967192_v105_n4_p629_Mendez http://hdl.handle.net/20.500.12110/paper_10967192_v105_n4_p629_Mendez |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
In silico analysis Mutation analysis Porphyria cutanea tarda Prokaryotic expression Uroporphyrinogen decarboxylase guanine nucleotide uroporphyrinogen decarboxylase valine amino acid sequence Argentina article clinical article familial disease female gene deletion gene insertion gene mutation heterozygosity human male molecular pathology polyadenylation porphyria cutanea tarda priority journal signal transduction Adolescent Adult Argentina Child Child, Preschool DNA Exons Female Genetic Predisposition to Disease Humans Introns Male Middle Aged Mutation Polymerase Chain Reaction Porphyria Cutanea Tarda Sequence Deletion Uroporphyrinogen Decarboxylase Young Adult Prokaryota |
| spellingShingle |
In silico analysis Mutation analysis Porphyria cutanea tarda Prokaryotic expression Uroporphyrinogen decarboxylase guanine nucleotide uroporphyrinogen decarboxylase valine amino acid sequence Argentina article clinical article familial disease female gene deletion gene insertion gene mutation heterozygosity human male molecular pathology polyadenylation porphyria cutanea tarda priority journal signal transduction Adolescent Adult Argentina Child Child, Preschool DNA Exons Female Genetic Predisposition to Disease Humans Introns Male Middle Aged Mutation Polymerase Chain Reaction Porphyria Cutanea Tarda Sequence Deletion Uroporphyrinogen Decarboxylase Young Adult Prokaryota Mendez, Manuel Rossetti, María Victoria Parera, Victoria Estela Batlle, Alcira María del Carmen Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| topic_facet |
In silico analysis Mutation analysis Porphyria cutanea tarda Prokaryotic expression Uroporphyrinogen decarboxylase guanine nucleotide uroporphyrinogen decarboxylase valine amino acid sequence Argentina article clinical article familial disease female gene deletion gene insertion gene mutation heterozygosity human male molecular pathology polyadenylation porphyria cutanea tarda priority journal signal transduction Adolescent Adult Argentina Child Child, Preschool DNA Exons Female Genetic Predisposition to Disease Humans Introns Male Middle Aged Mutation Polymerase Chain Reaction Porphyria Cutanea Tarda Sequence Deletion Uroporphyrinogen Decarboxylase Young Adult Prokaryota |
| description |
Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene. In the present study we have found the molecular defect in seventeen unrelated Argentinean patients with F-PCT, identifying a total of eleven UROD gene mutations: four novel and seven previously described. The novel mutations were: a guanine insertion at the 5' splice junction of intron 2, a three nucleotide deletion causing the lost of valine 90, a deletion of 22. bp in exon 6 and a deletion of part of the polyadenylation signal. Prokaryotic expression studies showed that the novel amino acid deletion resulted in an inactive protein. Mutations c.10insA and p.M165R, previously found in Argentinean patients, were recurrent in this study; they are the most frequent in Argentina accounting for 40% of the mutant alleles characterized to date. © 2012 Elsevier Inc.. |
| author |
Mendez, Manuel Rossetti, María Victoria Parera, Victoria Estela Batlle, Alcira María del Carmen |
| author_facet |
Mendez, Manuel Rossetti, María Victoria Parera, Victoria Estela Batlle, Alcira María del Carmen |
| author_sort |
Mendez, Manuel |
| title |
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| title_short |
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| title_full |
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| title_fullStr |
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| title_full_unstemmed |
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations |
| title_sort |
molecular analysis of the urod gene in 17 argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations |
| publishDate |
2012 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10967192_v105_n4_p629_Mendez http://hdl.handle.net/20.500.12110/paper_10967192_v105_n4_p629_Mendez |
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| _version_ |
1768545612414844928 |