TY  - JOUR
A1  - Hahnewald, Rita
A1  - Leimkühler, Silke
A1  - Vilaseca, Antonia
A1  - Acquaviva-Bourdain, Cecile
A1  - Lenz, Ulrike
A1  - Reiss, Jochen
T1  - A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase
JF  - Molecular genetics and metabolism
N2  - The small and large subunits of molybdopterin (MPT) synthase (MOCS2A and MOCS2B), are both encoded by the MOCS2 gene in overlapping and shifted open reading frames (ORFs), which is a highly unusual structure for eukaryotes. Theoretical analysis of genomic sequences suggested that the expression of these overlapping ORFs is facilitated by the use of alternate first exons leading to alternative transcripts. Here, we confirm the existence of these overlapping transcripts experimentally. Further, we identified a deletion in a molybdenum cofactor deficient patient, which removes the start codon for the small subunit (MOCS2A). We observed undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A. This reveals new insights into the expression of this evolutionary ancient anabolic system.
KW  - molybdenum cofactor deficiency
KW  - MOCS2
KW  - overlapping reading frames
Y1  - 2006
U6  - https://doi.org/10.1016/j.ymgme.2006.04.008
SN  - 1096-7192
VL  - 89
IS  - 3
SP  - 210
EP  - 213
PB  - Elsevier
CY  - San Diego
ER  -