title: 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.
authors.affiliation: Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
authors.forename: R J
authors.initials: RJ
authors.lastname: Blaschke
authors.forename: A P
authors.initials: AP
authors.lastname: Monaghan
authors.forename: S
authors.initials: S
authors.lastname: Schiller
authors.forename: B
authors.initials: B
authors.lastname: Schechinger
authors.forename: E
authors.initials: E
authors.lastname: Rao
authors.forename: H
authors.initials: H
authors.lastname: Padilla-Nash
authors.forename: T
authors.initials: T
authors.lastname: Ried
authors.forename: G A
authors.initials: GA
authors.lastname: Rappold
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000002:abnormalities; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D019465:Craniofacial Abnormalities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005314:Embryonic and Fetal Development; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D006330:Heart Defects, Congenital / Q000235:genetics; D018398:Homeodomain Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D000074122:Short Stature Homeobox Protein; D013577:Syndrome
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; C484664:SHOX2 protein, human; D000074122:Short Stature Homeobox Protein; C484663:Shox2 protein, mouse