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Genome and mutations (Structure of genome (genome is hereidtory…
Genome and mutations
Structure of genome
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Most of eukaryotic genome consist of non coding sequences, genes that code make up 2% of genome rest is non coding
non coding sequences are involved in regulating the transcription of proteins some are transcribed to RNA but never an protein
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Single gene mutations
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Point mutations
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Missense: the change results in different amino acid being produced this made result in the shape of the protein changing to cant continue with its function
Nonsense: these substitutions change the codon from an amino acid to an stop codon the result is an shorter protein produced. this protein is normally non functional
Splice site: these affect the boundaries between exons and introns an mutation can also prevent splicing at the site
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