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Karyotype
(complete set of chromosomes)
of the human genome
Genome structures within organisms
eukar have linear, bacteria has circular also archaea as we
Exons
protein coding sequences
introns
none coding sequences
homologous genes
that share a common ancestral origin but may have different functions in different species. They can result from evolution through gene duplication or speciation.
Orthologous genes:
• The SAME gene in different species (or individuals) like hemoglobin genes in humans and mice
Paralogous genes
Genes that are COPIES of each other in the same species or in
different species
• Arise due to duplication events, like globin genes: the human forms hemoglobin and myoglobin
Central dogma
DNA to RNA to protein
Synonymous substitutions
• Due to redundant genetic code
• Does not change the amino acid / protein sequence
• Usually considered neutral (not under selection)
Non-synonymous substitutions
• Changes the amino acid
Non-coding substitutions
• Usually, no effect on protein so considered neutral
• May effect expression level (adaptive or deleterious)
Non-synonymous substitutions
• Changes the amino acid
• May be adaptive, deleterious, or neutral
what is Ka and Ks
Ka = Non-synonymous substitutions per site
Ks = Synonymous substitutions per site
• Ka/Ks – measures the rate of protein evolution relative
to the neutral rate
ka/ks>1
positive adaptive selection, more amino acid changes
ka/ks<1
purifiying selection, less amino acid changes
ka/ks=1
neutral evolution and amino acid is occurring same time as neutral changes