A novel mechanism of aberrant pre-mRNA splicing in humans.

doi:10.1093/hmg/6.6.909

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Article

A novel mechanism of aberrant pre-mRNA splicing in humans.

Human molecular genetics - 1 Jun 1997

Cogan J D, Prince M A, Lekhakula S, Bundey S, Futrakul A, McCarthy E M, Phillips J A

Abstract excerpt

Eukaryotic pre-mRNA splicing is regulated by consensus sequences at the intron boundaries and branch site. Recently, Sirand-Pugnet et al. reported the importance of an additional intronic sequence, an (A/U)GGG repeat in chicken beta-tropomyosin that is a binding site for a protein required for spliceosome assembly. Interestingly, we have detected mutations in IVS3 of the human growth hormone (GH) gene that affect...

Topics

Alleles
Base Sequence
Child, Preschool
DNA
Deoxyribonucleases, Type II Site-Specific
HeLa Cells
Human Growth Hormone
Humans
Molecular Sequence Data
Mutation
RNA Precursors
RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 9175738
DOI: 10.1093/hmg/6.6.909

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