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Mutations

Mutations

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...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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: Jan 28, 2026

Single Molecule Analysis of Laser Localized Psoralen Adducts

Single Molecule Analysis of Laser Localized Psoralen Adducts

Published on: April 20, 2017

Analysis of LPI-causing mutations on y+LAT1 function and localization.

Bianca Maria Rotoli¹, Amelia Barilli¹, Filippo Ingoglia¹

¹Unit of General Pathology, Deptartment of Medicine and Surgery (DiMeC), University of Parma, Via Volturno 39, 43125, Parma, Italy.

Orphanet Journal of Rare Diseases

|March 6, 2019

Summary

Mutations in the y+LAT1 transporter cause Lysinuric Protein Intolerance (LPI) by impairing arginine transport, likely due to protein mislocalization. This defect

Keywords:

Arginine transport Site-directed mutagenesis Subcellular protein localization eGFP fusion proteins y+L transport system

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Last Updated: Jan 28, 2026

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

Area of Science:

Biochemistry
Genetics
Cell Biology

Background:

Lysinuric Protein Intolerance (LPI) is a rare metabolic disorder linked to mutations in the y+LAT1 transporter (encoded by SLC7A7).
LPI causes defective cationic amino acid transport, leading to protein intolerance and urea cycle dysfunction, with unexplained heterogeneous symptoms.
Existing LPI mutations are diverse, lacking clear genotype-phenotype correlations, except for the Finnish founder mutation.

Purpose of the Study:

Investigate the functional and localization effects of y+LAT1 mutations in Italian LPI patients.
Characterize system y+L-mediated arginine uptake in patient-derived monocytes and lymphoblasts.
Reproduce patient-specific y+LAT1 genetic defects in transfected cells to define protein function and localization.

Main Methods:

System y+L activity assays in isolated monocytes and transfected CHO cells.
Confocal microscopy to analyze the localization of eGFP-tagged y+LAT1 mutants.
Genetic defect reproduction in transfected Chinese Hamster Ovary (CHO) cells.

Main Results:

System y+L activity was impaired in LPI patient monocytes and transfected CHO cells, but not in lymphoblasts.
eGFP-tagged y+LAT1 mutants were retained in the cytosol, exhibiting heterogeneous expression patterns.
Confocal microscopy confirmed intracellular retention of mutated y+LAT1 proteins.

Conclusions:

Studied y+LAT1 mutations impair arginine transport in both ex vivo and in vitro models due to cytosolic retention.
Differential effects of y+LAT1 mutations in monocytes versus lymphoblasts may stem from varying SLC7A7 mRNA expression levels.
The cellular impact of LPI defects is likely influenced by the relative abundance of the affected gene in different cell types.