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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Investigating and correcting a rare pathogenic mutation in GDF11.

Sean T Congdon¹, John Bennett¹, Rhoddean Opinya¹

¹Biology Department, University of Hartford, West Hartford, CT, USA.

|December 19, 2025

Summary

This summary is machine-generated.

CRISPR prime editing successfully modeled and corrected a GDF11 gene mutation causing growth delay. This gene editing approach offers a new strategy for treating rare genetic disorders by precisely repairing pathogenic variants.

Keywords:

GDF11 UDN Undiagnosed Diseases Network prime editing rare disease

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Area of Science:

Genetics and Molecular Biology
Cell Biology
Biotechnology

Background:

Single-nucleotide variants (SNVs) and indels cause most rare genetic disorders.
Current therapeutic strategies for precise mutation correction are limited.
Prime editing allows precise DNA repair without double-strand breaks.

Purpose of the Study:

To model and correct a de novo GDF11 nonsense mutation (Tyr336*) using CRISPR prime editing.
To investigate the cellular and molecular consequences of the GDF11 mutation.
To establish a generalizable framework for disease modeling and gene correction.

Main Methods:

Generated heterozygous GDF11 Tyr336* mutant HEK293T cells.
Performed transcriptomic profiling to analyze gene expression changes.
Applied and optimized CRISPR prime editing strategies (PE7) for mutation correction.
Introduced a silent mutation to enhance editing efficiency and stability.

Main Results:

GDF11 Tyr336* mutation led to reduced GDF11 protein levels and Golgi abnormalities.
Transcriptomic analysis revealed dysregulation of metabolic, biosynthetic, cell-adhesion, and extracellular matrix genes.
CRISPR prime editing, specifically PE7, effectively corrected the GDF11 mutation in human cells.
Optimized prime editing strategy enhanced editing efficiency and stability.

Conclusions:

The GDF11 Tyr336* allele acts via haploinsufficiency.
CRISPR prime editing provides a viable method for modeling and correcting pathogenic variants.
This study establishes a framework for allele-specific correction of genetic disorders.