Basal transcription activity of the XXXX gene is mediated by @entity3419 and @entity28549 and a @entity1 mutation in a @entity3419 binding site is associated with decreased promoter activity.

@entity1 @entity7065 @entity19 @entity7063 @entity3419 @entity28549
The multisystem @entity7063 ( @entity7063 ) is caused by mutations in the @entity7065 gene. The protein dyskerin is a component of the box H+ACA small nucleolar RNAs (snoRNAs) and is also functionally associated with the RNA component of the @entity1 telomerase. The majority of mutations are missense mutations, although single examples of non-coding mutations have been described. One of these is a point mutation in a putative @entity3419 binding site in the 5'-upstream region of the @entity7065 gene which presumably represents the promoter region of the gene. In this report, we compare the promoter sequences of both the @entity1 and @entity19 genes and provide a first functional characterisation of the @entity1 @entity7065 promoter. This includes a characterisation of the disease-associated implications caused by the mutation identified in one @entity1 . By reporter gene analysis, functional regions of the @entity7065 promoter were delineated. The core promoter region critical for basal level of transcription was found to lie at -10 to -180. Bandshift- and supershift experiments clearly demonstrated a mutual binding of transcription factors @entity3419 and @entity28549 to two of five putative GC-box/ @entity3419 -binding sites located within the core promoter region. An additional GC-box interacts only with the @entity3419 transcription factor. Further, we provide evidence that the @entity7065 mutation in one of the @entity3419 binding sites results in reduced promoter activity.
