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Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
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Functional characterization of CYP2D7 gene variants.
Marin M Jukic1,2, Volker M Lauschke1, Takahiro Saito3
1Department of Physiology & Pharmacology, Karolinska Institutet, 17165 Stockholm, Sweden.
Pharmacogenomics
|July 25, 2018
Summary
The rare CYP2D7 variant rs530303678 does not cause the ultrarapid metabolizer (UM) phenotype. This variant, found in the CYP2D7 pseudogene, does not produce an active enzyme in the liver.
Area of Science:
- Pharmacogenomics
- Molecular biology
- Drug metabolism
Background:
- The ultrarapid CYP2D6 metabolizer (UM) phenotype is associated with altered drug response.
- CYP2D6 gene duplications explain the UM phenotype in some individuals.
- CYP2D7, a highly homologous pseudogene, has a premature stop codon, but a rare variant (rs530303678) can abolish this stop codon.
Purpose of the Study:
- To investigate whether the CYP2D7 variant rs530303678 can generate a functional protein.
- To determine if this functional protein could cause the ultrarapid CYP2D6 metabolizer (UM) phenotype.
Main Methods:
- Analysis of CYP2D7 rs530303678 variant isoforms.
- Assessment of protein expression in liver samples.
- Evaluation of catalytic activity towards CYP2D6 substrates (bufuralol, dextromethorphan).
Main Results:
- Two previously described CYP2D7 rs530303678 variant isoforms showed no significant protein expression.
- These isoforms exhibited no detectable catalytic activity for CYP2D6 substrates.
- Loss of the stop codon in CYP2D7 does not lead to an enzymatically active protein in human liver.
Conclusions:
- The CYP2D7 variant rs530303678 does not generate an enzymatically active protein.
- This variant cannot explain the ultrarapid CYP2D6 metabolizer (UM) phenotype in individuals lacking CYP2D6 gene duplications.
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