Related Experiment Video

Updated: Jan 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.5K

Bioinformatics-driven identification of pathogenic missense nsSNPs in the human proto-oncogene SRC and cancer

Md Shakil Ahamed1, Roksana Khanam1, K M Tanjida Islam1

  • 1Department of Biotechnology and Genetic Engineering, Mawlana Bhashani Science and Technology University, Santosh, Tangail-1902, Bangladesh.

Journal, Genetic Engineering & Biotechnology
|December 12, 2025
PubMed

Insights

Genetic variations in the SRC proto-oncogene can drive cancer. This study identifies specific SRC mutations, like W151C, Y419N, and P465S, that impact protein function and may serve as cancer biomarkers.

Area of Science:

  • Oncology
  • Molecular Biology
  • Bioinformatics

Background:

  • SRC is a proto-oncogene critical for cell growth and survival.
  • SRC dysregulation is a known driver in various cancers.
  • The functional impact of SRC genetic variants, especially nsSNPs, remains unclear.

Purpose of the Study:

  • To computationally identify and analyze the functional and structural consequences of nsSNPs in the SRC gene.
  • To investigate the effect of identified SRC mutations on protein stability, protein-protein interactions, and drug binding.
  • To explore the association of mutated SRC with cancer-related gene expression patterns.

Main Methods:

  • Integrative computational analysis of 512 missense nsSNPs in SRC.
  • Prediction of deleterious nsSNPs and their impact on protein structure stability.
  • Molecular dynamics simulations to assess protein stability and conformational changes.
  • Protein-protein docking studies to evaluate SRC-FAK complex disruption and dasatinib binding.
  • Gene expression analysis to link mutated SRC to cancer-related genes.

Main Results:

  • 42 out of 512 nsSNPs were predicted as deleterious, with 12 destabilizing protein structure.
  • Three key mutations (W151C, Y419N, P465S) caused significant physicochemical changes and reduced protein stability.
  • Mutations disrupted SRC-FAK binding and reduced dasatinib affinity.
  • Mutated SRC correlated with dysregulated cancer genes, particularly in multiple myeloma and uterine cancer.

Conclusions:

  • Identified SRC nsSNPs possess oncogenic potential, altering protein function and interactions.
  • These mutations may serve as diagnostic biomarkers and therapeutic targets for personalized cancer treatment.
  • Further population studies are warranted to validate the role of SRC mutations in cancer progression and drug response.
Keywords:
In silico analysisMolecular dockingMolecular dynamics simulationsProto-oncogene SRCnsSNPs

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.2K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

11.1K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
11.1K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
6.1K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.5K
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
7.0K