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Corresponding author: Jochen Graw, Institute of Developmental Genetics, D-85764 Neuherberg, Germany., graw{at}gsf.de (E-mail)
Communicating editor: C. KOZAK
A exchange 16 bp upstream of the end of intron 6, leading to skipping of exon 7. These 16 bp at the end of intron 6 are identical in hamster, rat, mouse, and humans, indicating high conservation during evolution and a functional importance in splicing. Since the loss of exon 7 changes the open reading frame of the MITF transcript, translation will be stopped after 10 new amino acids. The truncated protein is predicted to contain only a part of the basic region and will miss the two helical domains and the leucine zipper. The WhV203 mutation in the Syrian hamster affects the same functional domains of the Mitf transcription factor as the human R124X mutation, causing human Waardenburg syndrome type II. Therefore, the WhV203 hamster mutant provides a novel model for this particular syndrome.
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