Relationship between Genotype and Phenotype

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Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

All Protein Interactions in an Organism Compose the Interactome Proteome: Complete set of proteins produced by genetic material of an organism. Interactome: Complete set of protein interactions in an organism. Refer to Figure 9-21, Griffiths et al., 2015.

Alternative Splicing Produces Related but Distinct Protein Isoforms Refer to Figure 9-19, Introduction to Genetic Analysis, Griffiths et al., 2015.

Posttranslational Events Protein Folding: Translational product (polypeptide) achieves appropriate folding by aid of chaperone proteins. Modification of Amino Acids: * Phosphorylation/dephosphorylation * Ubiquitination Protein Targeting: Directing proteins to specific locations (for example, nucleus, mitochondria, or cell membrane) is accomplished by tagging of proteins (signal sequence for secreted proteins, nuclear localization sequences for nuclear proteins).

Posttranslational Events Protein Folding: Translational product (polypeptide) achieves appropriate folding by aid of chaperone proteins. Modification of Amino Acids: * Phosphorylation/dephosphorylation * Ubiquitination Protein Targeting: Directing proteins to specific locations (for example, nucleus, mitochondria, or cell membrane) is accomplished by tagging of proteins (signal sequence for secreted proteins, nuclear localization sequences for nuclear proteins).

Phosphorylation and Dephosphorylation of Proteins Kinases add phosphate groups to hydroxyl groups of amino acids such as serine and threonine. Phosphatases remove phosphate groups. Refer to Figure 9-20, Introduction to Genetic Analysis, Griffiths et al., 2015.

Ubiquitinization Targets a Protein for Degradation Short-lived proteins are ubiquitinated: cell-cycle regulators damaged proteins Refer to Figure 9-23, Introduction to Genetic Analysis, Griffiths et al., 2015.

Posttranslational Events Protein Folding: Translational product (polypeptide) achieves appropriate folding by aid of chaperone proteins. Modification of Amino Acids: * Phosphorylation/dephosphorylation * Ubiquitination Protein Targeting: Directing proteins to specific locations (for example, nucleus, mitochondria, or cell membrane) is accomplished by tagging of proteins (signal sequence for secreted proteins, nuclear localization sequences for nuclear proteins).

Signal Sequences Target Proteins for Secretion Signal sequence at the amino-terminal end of membrane proteins or secretory proteins are recognized by factors and receptors that mediate transmembrane transport. Signal sequence is cleaved by signal peptidase. Refer to Figure 9-24, Introduction to Genetic Analysis, Griffiths et al., 2015. Nuclear localization sequences (NLSs) are located in interior of proteins such as DNA and RNA polymerases. They are recognized by nuclear pore proteins for transport into nucleus.

Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

Frameshift Mutations and Suppressor Mutations frameshift mutations: insertions or deletions of nucleotides that cause a shift in the translational reading frame suppressor mutations: mutations that counteract or suppress the effects of another mutation wild-type CAU CAU CAU CAU CAU HIS HIS HIS HIS HIS addition of A deletion of A CAU ACA UCA UCA UCA U__ HIS THR SER SER SER . CAU ACU CAU CAU CAU HIS THR HIS HIS HIS deletion of U addition of G CAU CAC AUC AUC AU__ HIS HIS ILE ILE . CAU CAC GAU CAU CAU HIS HIS ASP HIS HIS