Human Molecular Genetics, Vol 7, 703-708, Copyright © 1998 by Oxford University Press
CA Hodgkinson, A Nakayama, H Li, LB Swenson, K Opdecamp, JH Asher Jr, H Arnheiter and T Glaser
Mutations in MITF (microphthalmia transcription factor) cause Waardenburg
syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting
of deafness and hypopigmentation. Phenotypes vary significantly within WS2
pedigrees, and there is generally no correlation between the predicted
biochemical properties of mutant MITF proteins and disease severity. We
have identified a nonsense mutation in the Mitf gene of the anophthalmic
white Wh) Syrian hamster that destabilizes its mRNA and prevents the
encoded basic helix-loop-helix leucine zipper (bHLHzip) protein from
dimerizing or binding DNA target sites. Although the resulting polypeptide
does not act as a dominant- negative species in vitro , the Wh mutation is
inherited as a semi- dominant trait. It thus more closely resembles WS2
than comparable Mitf alleles in laboratory mice and rats, which are
expressed as purely recessive traits.
ARTICLES
Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2
Howard Hughes Medical Institute, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109-0650, USA. chodg@mmg2.im.med.umich.edu
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