Originally published as Genetics Published Articles Ahead of Print on December 6, 2006.

Genetics, Vol. 175, 699-707, February 2007, Copyright © 2007
doi:10.1534/genetics.106.065177

Mutation of a Ubiquitously Expressed Mouse Transmembrane Protein (Tapt1) Causes Specific Skeletal Homeotic Transformations

Gareth R. Howell*, Mami Shindo{dagger}, Stephen Murray*, Thomas Gridley*, Lawriston A. Wilson* and John C. Schimenti*,1

{dagger} Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853 and * The Jackson Laboratory, Bar Harbor, Maine 04660

1 Corresponding author: Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, T9014A Vet Research Tower, Ithaca, NY 14853. 
E-mail: jcs92{at}cornell.edu

L5Jcs1 is a perinatal lethal mutation uncovered in a screen for ENU-induced mutations on mouse chromosome 5. L5Jcs1 homozygotes exhibit posterior-to-anterior transformations of the vertebral column midsection, similar to mice deficient for Hoxc8 and Hoxc9. Positional cloning efforts identified a mutation in a novel, evolutionarily conserved, and ubiquitously expressed gene dubbed Tapt1 (Transmembrane anterior posterior transformation 1). TAPT1 is predicted to contain several transmembrane domains, and part of the gene is orthologous to an unusual alternatively spliced human transcript encoding the cytomegalovirus gH receptor. We speculate that TAPT1 is a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development.


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Genetics 2007 175: NP. [Full Text]