The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.
The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA sequences have been described, which differ in the 5' sequence and encode for two forms of the protein MOCS1A with variable N-terminal sequences. We have reinvestigated the corresponding region by means of cDNA analysis and databank searches. This revealed three different splice variants, including two mutually exclusive first exons and a facultative intron. All three forms can be found in eight different human tissues in a constant ratio, which excludes tissue specificity of the different isoforms.
Institut für Medizinische Physik und Biophysik der Universität Münster, Robert-Koch-Strasse 31, Germany.
Sigrid
S
Gross-Hardt
Jochen
J
Reiss
D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D019755:Carbon-Carbon Lyases; D018387:Codon, Initiator; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D020033:Protein Isoforms
D018387:Codon, Initiator; D009687:Nuclear Proteins; D020033:Protein Isoforms; D019755:Carbon-Carbon Lyases; C114840:MOCS1 protein, human