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PMID:1672129

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Citation

Lee, B, Vitale, E, Superti-Furga, A, Steinmann, B and Ramirez, F (1991) G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J. Biol. Chem. 266:5256-9

Abstract

We identified a splicing mutation in a patient with Ehlers-Danlos syndrome type IV, a heritable connective tissue disorder associated with dysfunctions of type III collagen. The mutation was first localized in the patient's type III procollagen mRNA by amplifying the reverse transcribed product in several overlapping fragments using the polymerase chain reaction. Amplified products spanning exon 24-26 sequences displayed two distinct fragments, one of normal size and the other lacking the 99 base pairs of exon 25. Sequencing of amplified genomic products identified a G to T transversion at position +5 of the splice donor site of intron 25 in one of the patient's procollagen III genes. Expression of allelic minigene constructs correlated the T for G substitution with skipping of exon 25 sequences. Like previously characterized splicing mutations in other collagen genes, lowering the temperature at which the patient's fibroblasts were incubated nearly abolished exon skipping. As a part of this study, we also identified a highly polymorphic, intronic DNA sequence whose different allelic forms can be detected easily by the polymerase chain reaction technique.

Links

PubMed

Keywords

Alleles; Autoradiography; Base Sequence; DNA/genetics; Ehlers-Danlos Syndrome/genetics; Exons; Guanine; Humans; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Procollagen/genetics; RNA Splicing; RNA, Messenger/genetics; Thymine; Transcription, Genetic

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CO3A1

part_of

GO:0005586: collagen type III trimer

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

HUMAN:CO3A1

involved_in

GO:0030199: collagen fibril organization

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

See also

References

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