Unknown

Dataset Information

0

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 venosus (aorta), female genitalia, diencephalon, mes- and myelencephalon, nasal capsula, palate, eyelid, and in the limbs. SHOT was mapped to human chromosome 3q25-q26 and OG-12 within a syntenic region on chromosome 3. Based on the localization and expression pattern of its mouse homologue during embryonic development, SHOT represents a candidate for the Cornelia de Lange syndrome.

SUBMITTER: Blaschke RJ 

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

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

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]

Similar Datasets

| S-EPMC316673 | biostudies-literature
| S-EPMC4232222 | biostudies-literature
| S-EPMC186247 | biostudies-literature
| S-EPMC4492403 | biostudies-literature
| S-EPMC3729611 | biostudies-literature
| S-EPMC20140 | biostudies-literature
| S-EPMC7678493 | biostudies-literature
| S-EPMC2987325 | biostudies-literature
| S-EPMC3072215 | biostudies-literature
| S-EPMC3447975 | biostudies-literature