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Transcript
Comprehensive analysis of CpG islands in human chromosomes 21 and 22
Daiya Takai and Peter A. Jones, 2002
A Quick Summary:
CpG islands are important for gene expression; studies show that methylation of CpG
islands plays a significant role in gene silencing. In 1987, Gardiner-Garden and Frommer
set the standard definition of what a CpG island is: a 200 base pair stretch of DNA with
50% G + C content and an observed CpG/expected CpG ratio of at least 0.6. In
“Comprehensive analysis of CpG islands in human chromosomes 21 and 22,” Takai and
Jones suggest that the standard definition may not be strict enough, and set out to prove
it.
Takai and Jones code a computer program, using a nifty sliding-window algorithm. They
use it to analyze human chromosomes 21 and 22, which contain roughly 750 genes
between them. Using Gardiner-Garden and Frommer’s criteria on the sequence, their
program comes up with 14,062 CpG islands, more than half of which are Alu repeats (not
true CpG islands). Using stricter criteria—minimum length of 500 bp, G + C content of
at least 55%, and obs/exp of at least .65—Takai and Jones run their program again and
come up with 1,101 CpG islands. Their results include 122 Alus, clearly many fewer
than the less strict criteria’s results. Their results are preferentially located on the 5’
region of genes, which is desirable, except for the fact that in eliminating the Alu repeats
they also may be throwing out results that matter for gene expression.
While they’re at it, in order to be truly comprehensive and live up to the title of their
article, Takai and Jones do a comparison between the human genome and several others,
looking at the frequency of each dinucleotide in randomly chosen segments of DNA.
They find that CpG is suppressed in every genome they look at except for E. Coli’s. CpG
is most suppressed in the human genome.