A young boy who has difficulty in getting up from sitting position was diagnosed to have Duchene's muscular dystrophy. Which one is true regarding the mutation in the dystrophin gene in promoter region:
High-Yield Explanation
A i.e. Initiation of transcription of the dystrophin gene would be affectedLet me rephrase this question to make it straight forward, and then the would be - what is the consequence of alteration (i.e. mutation) in promoter region?Promoter region of transcription unit is the poion of DNA having specific consensus sequences (like TATA box /CAAT box /GC box etc) which is identified by the RNA polymerase enzyme for binding and formation of preinitiation complex (PIC) inprokaryotes or RNA polymerase Il/pol II-transcription complex in eukaryotes - a process ultimately resulting in initiation of transcription.So this becomes very obvious, that any alteration/mutation/ damage in promoter would typically prevent formation of PIC or pol II transcription complex, resulting in a decrease in the initiation of m-RNA synthesis (transcription) l/t decreased protein synthesis. And similarly promoter induction would increase the transcription rateQ.Capping, tailing, termination and splicing are not associated with promoter and so are not a consequence of promoter mutations. However, capping & tailing defects can result in m RNA with decreased stability and splicing defects in mRNA in which to few or too many introns have been removed.