Human Molecular Genetics, Vol 7, 945-957, Copyright © 1998 by Oxford University Press
P Bourgeois, AL Bolcato-Bellemin, JM Danse, A Bloch-Zupan, K Yoshiba, C Stoetzel and F Perrin-Schmitt
Most targeted gene mutations are recessive and analyses of gene function
often focus on homozygous mutant phenotypes. Here we describe parts of the
expression pattern of M-twist in the head of developing wild-type mice and
present our analysis of the phenotype of heterozygous twist- null animals
at around birth and in adults. A number of twist -null heterozygous mice
present skull and limb defects and, in addition, we observed other
malformations, such as defects in middle ear formation and the xyphoid
process. Our study is of interest to understand bone formation and the role
of M-twist during this process, as within the same animal growth of some
bones can be accelerated while for others it can be delayed. Moreover, we
show here that expressivity of the mouse mutant heterozygous phenotype is
dependent on the genetic background. This information might also be helpful
for clinicians, since molecular defects affecting one allele of the human
H-twist ( TWIST ) gene were identified in patients affected with
Saethre-Chotzen syndrome (SCS). Expressivity of this syndrome is variable,
although most patients present craniofacial and limb malformations
resembling those seen in mutant mice. Thus the mutant mouse twist -null
strain might be a useful animal model for SCS. The twist -null mutant mouse
model, combined with other mutant mouse strains, might also help in an
understanding of the etiology of morphological abnormalities that appear in
human patients affected by other syndromes.
ARTICLES
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS/INSERM U184, Institut de Chimie Biologique, Strasbourg Cedex, France.
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