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Related Concept Videos

Mismatch Repair

Mismatch Repair

Mutations

Mutations

Position-effect Variegation

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Related Experiment Video

Updated: Jul 13, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

A "silent" polymorphism in the MDR1 gene changes substrate specificity.

Chava Kimchi-Sarfaty¹, Jung Mi Oh, In-Wha Kim

¹Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. kimchi@cber.fda.gov

Science (New York, N.Y.)

|December 23, 2006

Summary

This summary is machine-generated.

Synonymous single-nucleotide polymorphisms (SNPs) in the Multidrug Resistance 1 (MDR1) gene alter P-glycoprotein (P-gp) function. This occurs despite unchanged protein levels, suggesting a structural change impacts drug interactions.

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Area of Science:

Pharmacogenomics
Molecular Biology
Protein Biochemistry

Background:

Synonymous single-nucleotide polymorphisms (SNPs) typically do not alter protein sequences or functions.
The Multidrug Resistance 1 (MDR1) gene encodes P-glycoprotein (P-gp), a crucial efflux pump involved in drug transport.
Previous studies linked certain MDR1 haplotypes to altered P-gp function.

Purpose of the Study:

To investigate the functional impact of a synonymous SNP in the MDR1 gene.
To determine if this synonymous SNP affects P-glycoprotein (P-gp) interactions with drugs and inhibitors.

Main Methods:

Comparative analysis of wild-type and polymorphic P-gp.
Assessment of mRNA and protein expression levels.
Evaluation of P-gp conformation and interactions with substrates and inhibitors.

Main Results:

A synonymous SNP in the MDR1 gene was found to alter P-gp drug and inhibitor interactions.
Wild-type and polymorphic P-gp exhibited similar mRNA and protein levels.
Altered P-gp conformations were observed between wild-type and polymorphic variants.

Conclusions:

Synonymous SNPs can impact protein function through mechanisms beyond coding sequence changes.
The presence of rare codons associated with synonymous SNPs may affect cotranslational folding and membrane insertion.
This process can lead to altered protein conformations and modified substrate/inhibitor interaction sites, impacting drug efficacy and pharmacokinetics.