Functionall elements in the genome - pseudo genes
6 important questions on Functionall elements in the genome - pseudo genes
What is a pseudo genes?~and what is the % of pseudogenes and the % that are tarnsscribed
- Genes that look like genes but are no real genes
- a defective gene copy that contains a least multiple exons of a functional gene
- has most of the time mutations
- ~10% of all protein coding gens have a pseudogene
- ~20% of all pseudogenes are transcribed
Two mechanisms of orgin pseudogenes?
- Duplication
- the one duplicated gene with a mutation can accumulate more mutations.
- introns are contained
- RNA intermediate
- mRNA is reintergrated in the genome, these parts also accumulate mutation to become unfunctinal gene.
- the introns have been splisted out
- retrogene= processed pseudogene
Pseudogene through tandem gene duplication?
- Non allelic recombination --> replication crossover occurs
- leads to repeat sequence on the same chromosome.
- one copy accumulate the mu
tations and the other one remians functional
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How many nonprocessed pseudogenes (by duplication events)?
How many processed pseudogenes (retrogenes via RNA intermediate)?
Why are we learning about pseudogenes?
- May cause mutations and diseases/disorders
- regulatory function
- PCR primers will not distinguish between gene A and pseudogene A, so different pri
mers needs to be made
- therapies are based on pseudogenes (Spinraza/Nusinersen/SMA)
- to make them functional protein out of them, because the normal genes has mutations anad no longer functional.
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