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The gene: The fundamental
unit of function
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Gene structural elements (promoter,
transcription start site, reading frame, 5’
UTR, exons, introns, termination site, 3’
UTR, polyadenylation signal)
mRNA processing (splicing, 5’
methylation, 3’ polyadenylation)
Post-translational processing
Gene duplication and gene families
Organization of genes into
chromosomes
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Nucleoproteins and DNA packaging
Structure of chromosome: a single
uninterrupted DNA double helix
Sequence elements essential for
chromosome function (insights from
artificial chromosomes);
– centromeres
– telomeres
Sequence elements of the
human genome
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Unique sequence DNA (50-75% of total
length of DNA):
– genes (<10% of total genomic DNA)
– unique-sequence DNA of unknown function
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Repetitive DNA elements:
– satellite DNAs (skewed base content)
– related dispersed elements (Alu and L1
families)