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© 1994 Oxford University Press

OTHER

Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping

Marie-Hélène Delfau-Larue+, Pavel Martasek+ and Bernard Grandchamp*

INSERM U409 and Assoctaton Claude Bernard, Facufté de Médecine Xavier Bichat Université Paris 7, 75018 Paris, France

*To whom correspondence should be addressed

Received June 13, 1994; Accepted June 13, 1994

Genomic clones containing a human coproporphyr-inogen oxidase gene, were Isolated. DNA sequencing Indicates that the human CPX gene spans about 14 kb and consists of seven exons and six introns. Sequences were determined for all the exons, exon-Intron junctions and for 800 bp of promoter region. Introns vary in size from 269 bp to 5 kb and they all have consensus sequences at their boundaries. Primer extension and ribonuclease protection experiments revealed multiple transcriptional initiation sites In a region with sequence motifs characteristic of a promoter. The promoter region is GC-rich and contains multiple potential Sp1 elements, CACCC boxes and potential GATA-1 binding sites. The availability of the CPX genomic sequence allowed us to determine the mutation in a patient with a hereditary coproporphyria. A G to A mutation was found at the last position of exon 6. This mutation results in exon skipping.

+These authors contributed equally to this work


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