BMBF (FKZ 031652C), subproject D6: Population genetic variability of alternative NAGNAG splice acceptors
- prediction, verification and analysis of functional implications

Project description

Alternative splicing at NAGNAG acceptors results in the insertion/deletion (indel) of 3 nucleotides (nt) into the transcript. We observed non-NAGNAG splice sites with EST evidence for such a 3nt indel. Since SNPs influence alternative NAGNAG splicing, we hypothesize that these acceptors have a NAGNAG motif in another allele. The respective ESTs might be sampled from cells having such a NAGNAG allele. The goal of this project is investigate the reason for the observed tiplet indels and to use these events to predict and verify new SNPs.

Funded and Associated Group Members

• Swetlana Nikolajewa
• Michael Hiller

Main Publications

• Michael Hiller*, Klaus Huse*, Karol Szafranski, Niels Jahn, Jochen Hampe, Stefan Schreiber, Rolf Backofen, and Matthias Platzer. Single-Nucleotide Polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Am J Hum Genet. 78(2), 291-302, 2006