Gene Structure

Topics to be Covered
Introduction Gene structure Promoter Terminator Splice site

Terminology
Genome entire genetic material of an individual Transcriptome set of transcribed sequences Proteome set of proteins encoded by the genome

Terminology
Only one strand of DNA serves as a template for transcription.

Different genes are transcribed from different strands

From Gene to Protein

Eukaryotic Gene Structure

5 - Promoter UTR Exon1 splice Intron1 Exon2 splice Terminator 3 UTR

transcription
Poly A

translation

protein
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Prokaryotic Gene Structure

Promoter UTR CDS UTR Terminator

Genomic DNA transcription mRNA translation

protein
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Topics to be Covered
Introduction Gene structure Promoter Terminator Splice sites

Promoter
Promoter determines:
1. Which strand will serve as a template. 2. Transcription starting point. 3. Strength of polymerase binding. 4. Frequency of polymerase binding.

Prokaryotic Promoter
One type of RNA polymerase. Pribnow box located at 10 (6-7bp) 35 sequence located at -35 (6bp)

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Eukaryote Promoter
3 types of RNA polymerases are employed in transcription of genes:
RNA polymerase I transcribes rRNA RNA polymerase II transcribes all genes coding for polypeptides RNA polymerase III transcribes small cytoplasmatic RNA, such as tRNA.

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Eukaryote Promoter
Goldberg-Hogness or TATA located at 30 Additional regions at 100 and at 200 Possible distant regions acting as enhancers or silencers (even more than 50 kb).

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Promoter
Promoters sequences can vary tremendously. RNA polymerase recognizes hundreds of different promoters

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Promoter
Strong promoter resemble the consensus sequence. Mutations at promoter sites can influence transcription.

Human gene Beta globin

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Promoter
Conclusions:
1. Promoters are very hard to predict. 2. Promoter prediction must be organismdependent (and even polymerase-dependent).

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Termination Sites
The newly synthesized mRNA forms a stem and loop structure (lollipop). A disassociation signal at the end of the gene that stops elongating and releases RNA polymerase. All terminators (eukaryotes and prokaryotes) form a secondary structure.
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Termination Sites
The terminator region pauses the polymerase and causes disassociation.

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Splice Sites
Eukaryotics only Removing internal parts of the newly transcribed RNA. Takes place in the cell nucleus (hnRNA)

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Splice Sites
Conserved splice sites are shared by both the exon and the intron. Different signals on the donor site (3) and on the acceptor site (5).

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Splice Sites

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Alternative splicing
Different splice patterns from the same hnRNA sequence. Different products from the same gene Different organs, different stages of development in the same cell. Exact splice sites are difficult to predict

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