Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Laimer, M; Klausegger, A; Aberer, W; Oender, K; Steinhuber, M; Lanschuetzer, CM; Wally, V; Hintner, H; Bauer, JW.
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.
GENET MED. 2006; 8: 249-254.
Doi: 10.1097/01.gim.0000214302.90076.fa
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- Co-Autor*innen der Med Uni Graz
- Aberer Werner
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- Abstract:
- PURPOSE: Sequences within the non-coding 3'UTR (untranslated region) of genes were reported to be involved in the regulation of gene expression by modifying pathways of (co)transcription, post-transcriptional processing and RNA transport. However, direct biological evidence (i.e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor (C1-INH) gene with clinical presentation of hereditary angioedema (HAE). METHODS AND RESULTS: Direct sequencing of genomic DNA revealed in all affected members of a family suffering from HAE a heterozygous 155 bp deletion 100 bp downstream of the physiological stop-codon in exon 8. A substantial reduction of both mRNA as well as C1-INH protein expression was revealed by RT-PCR and nephelometry, respectively. CONCLUSION: We suppose that the mutation within the 3'UTR interferes with integral pathways of gene expression leading to pathogenic haploinsufficiency in this family.
- Find related publications in this database (using NLM MeSH Indexing)
- 3' Untranslated Regions -
- Adult -
- Angioneurotic Edema - genetics
- Base Sequence - genetics
- Complement C1 Inactivator Proteins - genetics
- DNA Mutational Analysis - genetics
- Female - genetics
- Haplotypes - genetics
- Heterozygote - genetics
- Humans - genetics
- Male - genetics
- Middle Aged - genetics
- Molecular Sequence Data - genetics
- Mutation - genetics
- Pedigree - genetics
- Polymerase Chain Reaction - genetics
- Polymorphism, Genetic - genetics
- Sequence Deletion - genetics
- Find related publications in this database (Keywords)
- 3 ' UTR
- C1-inhibitor
- mRNA
- hereditary angioedema
- deletion