Ontology highlight
ABSTRACT:
SUBMITTER: Blaschke RJ
PROVIDER: S-EPMC19357 | biostudies-literature | 1998 Mar
REPOSITORIES: biostudies-literature
Blaschke R J RJ Monaghan A P AP Schiller S S Schechinger B B Rao E E Padilla-Nash H H Ried T T Rappold G A GA
Proceedings of the National Academy of Sciences of the United States of America 19980301 5
Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome. We have identified a human paired-related homeobox gene, SHOT, by virtue of its homology to the human SHOX and mouse OG-12 genes. Two different isoforms were isolated, SHOTa and SHOTb, which have identical homeodomains and share a C-terminal 14-amino acid residue motif characteristic for craniofacially expr ...[more]