Scribd
Upload
8 views

Gene Mutation

Uploaded by

nadine78727
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
8 views

Gene Mutation

Uploaded by

nadine78727
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 6

Gene Mutations

Overview of Gene Mutations Gene mutations are variations in the DNA sequence
that can be brought on by outside influences or by natural processes. These
changes impact biodiversity and health and are essential to evolution and
genetics (Lodish et al., 2016).

*Reference: Lodish, H., Berk, A., & Zipursky, S. L. (2016). *Molecular Cell Biology
(8th ed.). W. H. Freeman.

:What is DNA?** Deoxyribonucleic acid, or DNA, is made up of nucleotides


arranged into genes and encodes genetic instructions. These genes code for
proteins, which define characteristics (Alberts et al., 2002).

*Reference: Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., & Walter, P.
(2002). *Molecular Biology of the Cell (4th ed.). Garland Science.

Gene Mutation Types ** Point mutations (substitutions, insertions, deletions) and


chromosomal mutations (duplications, inversions) are two types of gene
mutations.Protein expression or function may be changed by certain alterations
(Strachan & Read, 2018).

*Reference: Strachan, T., & Read, A. P. (2018). *Human Molecular Genetics (5th
ed.). Garland Science.
Point Mutations A single nucleotide can change in a point mutation. Mutations
that are silent, missense, or nonsense are a few examples. Whether the mutation
affects protein function determines the outcome (Snyder & Champoux, 2007).

Reference: Snyder, M., & Champoux, J. J. (2007). *Molecular Genetics of Bacteria


and Viruses. Sinauer Associates.

Silent Mutations** Usually caused by genetic code redundancy, silent mutations


alter a nucleotide without changing the amino acid sequence of the protein (Nei
& Kumar, 2000).

*Reference: Nei, M., & Kumar, S. (2000). *Molecular Evolution and Phylogenetics.
Oxford University Press.

Missense Mutations As observed in illnesses like sickle cell anaemia, missense


mutations cause one amino acid to be substituted for another, which may impact
protein function (Hoffman et al., 2011).*Reference: Hoffman, R., Benz, E. J.,
Shattil, S. J., Furie, B., & Furie, M. B. (2011). *Hematology: Basic Principles and
Practice. Elsevier.
Stupid Mutations A premature stop codon is introduced by nonsense mutations,
truncating the protein and frequently making it nonfunctional. According to
Kunkel (2004), this is a primary cause of genetic diseases.

Reference: Kunkel, T. A. (2004). "DNA replication fidelity." *Journal of Biological


Chemistry, 279(44), 48075-48078.

:Additions and Removals ** Frameshift mutations can result from insertions and
deletions (indels), which can change the reading frame and possibly the entire
protein sequence (Watson et al., 2013) .

*Reference: Watson, J. D., Baker, T. A., Bell, S. P., Gann, A., Levine, M., & Losick, R.
(2013). *Molecular Biology of the Gene (7th ed.). Pearson.

Reasons Behind Gene Mutations Environmental elements like radiation,


chemicals, or viral infections can cause mutations or they can occur naturally.
These elements raise the rate of mutations and harm DNA (Lichtenstein et al.,
2000). *Source: C. P. Lichtenstein et al. (2000). *Journal of Genetics, 79(1), 10–20.
"Spontaneous mutations in humans".

*Reference: Lichtenstein, C. P., et al. (2000). "Spontaneous mutations in humans."


*Journal of Genetics, 79(1), 10-20.
Mutagens**

Mutagens are outside substances that can cause mutations by harming DNA, such
as UV light or carcinogens. UV light, for example, can produce thymine dimers,
which can result in mutations (Setlow et al., 1993).*Reference: Setlow, R. B., et al.
(1993). "The UV-induced mutation process." *Science, 262(5142), 1552-1558.

Mechanisms of DNA Repair To fix DNA damage, cells have repair systems such
nucleotide excision repair and mismatch repair. According to Lombardi et al.
(2012), defective repair systems can raise the rate of mutations and exacerbate
disease.

*Reference: Lombardi, R., et al. (2012). "DNA repair and mutations in human
disease." *Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1823(4),
515-531.

Advantageous Mutations According to Anderson and Chao (1997), some


mutations are advantageous, offering benefits like resistance to antibiotics or
enhanced survival in shifting environments.

*Reference: Anderson, R. M., & Chao, L. (1997). "Adaptation to environmental


changes and the evolution of beneficial mutations." *Evolutionary Ecology, 11(3),
361-381.

Negative Mutations Huntington's disease and cystic fibrosis are examples of


genetic illnesses that can result from harmful mutations.(McKusick, 2007) These
mutations disrupt regular biological processes
*Reference: McKusick, V. A. (2007). *Mendelian Inheritance in Man: A Catalog of
Human Genes and Genetic Disorders (12th ed.). Johns Hopkins University Press.

Evolution and Mutations Evolution uses mutations as its starting point. Over
many generations, advantageous mutations build up, resulting in speciation and
adaptation (Darwin, 1859; Mayr, 2001).

*Reference: Darwin, C. (1859). *On the Origin of Species by Means of Natural


Selection. John Murray .

Mayr, E. (2001). What Evolution Is. Basic Books.

Cancer Mutations** Proto-oncogene and tumour suppressor gene mutations


frequently cause cancer by interfering with cell cycle regulation and causing
unchecked development (Hanahan & Weinberg, 2011). *Reference: Hanahan, D.,
& Weinberg, R. A. (2011). "Hallmarks of cancer: The next generation." *Cell,
144(5), 646-674

Gene therapy Through the introduction, modification, or repair of genes into a


patient's cells, gene therapy seeks to rectify genetic mutations. This presents
possible remedies for hereditary illnesses such as haemophilia (High, 2017).

*Reference: High, K. A. (2017). "Gene therapy: The past, present, and future."
*Nature Reviews Drug Discovery, 16(7), 409-423.

Utilising CRISPR-Cas9 Technology Scientists may now directly alter DNA thanks to
the ground-breaking CRISPR-Cas9 tool for precision gene editing. It has the
potential to fix molecular mutations (Jinek et al., 2012)
*Reference: Jinek, M., et al. (2012). "A programmable dual-RNA-guided DNA
endonuclease in adaptive bacterial immunity." *Science, 337(6096), 816-821.

Ethical Considerations The potential for "designer babies" and the unintended
repercussions of changing the human genome are just two ethical issues brought
up by the power of gene editing (Doudna & Charpentier, 2014).

*Reference: Doudna, J. A., & Charpentier, E. (2014). "The new frontier of genome
engineering with CRISPR-Cas9." *Science, 346(6213), 1258096.

The Prospects for Research on Gene MutationsOur knowledge of genetic


disorders and evolution is being enhanced by ongoing study on gene mutations,
which also opens up new therapeutic avenues (Collins et al., 2003).

*Reference: Collins, F. S., et al. (2003). "A vision for the future of genomics
research." *Nature, 422(6934), 835-847.

The diversity and evolution of life are largely dependent on gene mutations. To
improve human health and advance medicine, it is crucial to comprehend their
causes, impacts, and treatment possibilities (Vogelstein & Kinzler, 2015

*Reference: Vogelstein, B., & Kinzler, K. W. (2015). *The Genetic Basis of Human
Cancer (2nd ed.). McGraw-Hill Education.

You might also like