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Curr Eye Res. 1998 Jul;17(7):726-9.

Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.

Author information

1
Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.

Abstract

PURPOSE:

To characterize the effect on mRNA splicing of a yet undescribed mutation located in intron 13 splice-donor sequence (IVS13 + 3A --> C) in the Rab-Escort-protein 1 gene of a patient with choroideremia.

METHODS:

The base substitution was firstly detected by the Single Strand conformation analysis from genomic DNA. A REP-1 cDNA region encompassing exons 10-14 was then specifically amplified from lymphocytes-derived mRNA.

RESULTS:

We could demonstrate that this substitution affects REP-1 RNA processing. The patient revealed only one aberrantly spliced mRNA lacking exon 13 and no normal transcript.

CONCLUSION:

The skipping of exon 13 results in the creation of a stop codon at the misspliced junction. This is the first case of nucleotide substitution at the +3 position of a splice donor site so far described in choroideremia.

PMID:
9678418
[Indexed for MEDLINE]

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