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A Translation Frameshift Mutation Induced by a Cytosine Insertion in the Polycystic Kidney Disease 2 Gene (PKD2)
- Source :
- Human molecular genetics, Hum.Mol.Genet.
- Publication Year :
- 1997
- Publisher :
- Oxford University Press (OUP), 1997.
-
Abstract
- Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic changes, and the age of onset, which is 10-15 years later for the ADPKD2 form. In Cyprus there are at least three large families, documented by molecular linkage analysis, that map to the PKD2 locus. For two of them the defects were recently shown to be nonsense mutations at positions arginine 742 and glutamine 405. In this report, we describe the mutation in the third family, CY1602. For this, the entire coding sequence was systematically screened by single strand conformation analysis and heteroduplex formation. A novel mutation was identified in exon 2 where a new cytosine residue was inserted immediately after codon 231 (231insC). It causes a translation frameshift and is expected to lead to the introduction of 37 novel amino acids before the translation reaches a new STOP codon. It is the most amino terminal mutation reported to date, and based on the protein's modeled structure, is predicted to be within the first transmembrane domain. It is the fourth PKD2 mutation reported thus far, and the first which is not a nonsense mutation. 6 949 952 Cited By :22
- Subjects :
- onset age
Male
Silent mutation
Mutation rate
family
TRPP Cation Channels
single strand conformation polymorphism
frameshift mutation
Nonsense mutation
nonsense mutation
arginine
Biology
Frameshift mutation
Polar mutation
Cytosine
male
genetic linkage
Genetics
stop codon
Humans
Missense mutation
human
exon
cytosine
Molecular Biology
Genetics (clinical)
clinical article
article
Membrane Proteins
General Medicine
Polycystic Kidney, Autosomal Dominant
Stop codon
Pedigree
kidney polycystic disease
Mutagenesis, Insertional
female
priority journal
chromosome 4q
Protein Biosynthesis
glutamine
amino terminal sequence
Female
cyprus
Synonymous substitution
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....d47d003f608bf65512e80a244f9e397f