Almost all eukaryotes have

introns

Existence of introns in the eukaryotic

genome is intriguing
cost of transcription
cost of maintaining a splicing
regulatory system
 BACKGROUND
Eukaryotes have long first intron
And have higher conservation relative to other
introns

Question addressed

Why conserved
region??

Suggest the potential regulatory role of conserved

region in the first intron
5’-most intron differ from other intron in the following
aspect

1. In terms of processing, First intron is removed somewhat

later

2. Longest and appear to be selectively constrained

3. In specific epigenomic context, 5’-end of first intron

enriched with chromatin activating signal.
Results

First intron are the

most conserved

• Fraction of introns that

were conserved was
estimated.

• 300bp of splice junction

was removed.

• Analysis was repeated

with transcripts grouped
by number of introns.
Chromatin signals are the highest in first introns and
increase with increasing conservation

Enrichment of
epigenomic
signal in intron
1.
Whether signal
correlated with
conservation?

There was
modest
correlation for
activation
chromatin
signal but not
for repression
signal.
First intron conservation and regulatory signals
positively correlate with the number of exons.
To asses relationship between level of conservation and the
complexity of genes expression.

complexity of genes expression

Genes expressed in very few or most tissue-low
complexity
Genes expressed in intermediate number of tissue-high
complexity

Gene expression complexity correlated with both coding

and intronic content of gene, therefore used number of
exons as a proxy for gene expression complexity.
Positive correlation between conservation in first intron
and number of exons for all genes.
Results of first intron compared with that for the 2kb
proximal promoter region, showed positive correlation
with number of exons

And then correlation between regulatory

signal and number of exons was assessed.
Conservation have to do with the presence of active
regulatory signals than repressive.
Conclusion
Investigated the potential regulatory role of first
introns in human genome.

And showed higher conservation are related to

1. Presence of active regulatory mark
2. Higher expression level of genes
3. And greater number of exons within genes.
Questions that need to be
addressed?
• Mechanism by which individual conserved, putative
regulatory region in the first intron and regulate gene
expression.

• Evolutionary path leading to longer intron

• Whether first intron length is under selective constraint.

• Whether it is beneficial for regulatory element to reside

inside.
THANKYOU