SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

ABSTRACT: 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 expressed homeodomain proteins. Differences between SHOTa and b reside within the N termini and an alternatively spliced exon in the C termini. In situ hybridization of the mouse equivalent, OG-12, on sections from staged mouse embryos detected highly restricted transcripts in the developing sinus venos

SUBMITTER: Blaschke RJ 

PROVIDER: S-EPMC19357 | biostudies-literature | 1998 Mar

REPOSITORIES: biostudies-literature