Human Molecular Genetics, 2000, Vol. 9, No. 13 1937-1942
© 2000 Oxford University Press
The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus
Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA, 1Department of Pathology, University of Texas Health Sciences Center, Houston, TX 77030, USA and 2Children’s Research Institute and Departments of Pediatrics and Pathology, The Ohio State University, Columbus, OH 43221, USA
Bent tail (Bn) is a spontaneous, semi-dominant mutation on the mouse X chromosome that produces tail deformities and, rarely, open neural tube defects. Analysis of 292 normal male and affected male and female progeny from an intraspecific back-cross involving Bn supports a gene order of cen–DXMit89–18.5 ± 2.3 cM–DXMit166–1.4 ± 0.7 cM–Bn–1.0 ± 0.6 cM–DXMit140 –4.8 ± 1.3 cM–DXBay6–tel. A high frequency of sex chromosomal non-disjunction, unrelated to the Bn mutation, was also identified in the background strain. Refined genetic and physical mapping of the Bn critical region demonstrate that the mutation is associated with a <170 kb submicroscopic deletion that includes the anonymous microsatellite marker DXMit208 as well as the entire Zic3 locus. Human mutations in ZIC3 are associated with left–right axis malformations (MIM 306955, 208530, 207100). Abnormalities of abdominal and thoracic situs were also detected in viable Bn males and females. The presence of anal and spinal abnormalities in some of the human patients and the deletion of Zic3 in Bn mice support a key role for this gene in neural tube development and closure.
+ These authors contributed equally to this work
§ To whom correspondence should be addressed at: Children’s Research Institute, 700 Children’s Drive, Room W403, Columbus, OH 43205, USA. Tel: +1 614 722 2848; Fax: +1 614 722 27116; Email: hermang@pediatrics.ohio-state.edu
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