The Deterioration of the Human Genome Through Mutation Accumulation

Authors

  • Katja Spasic Clarksburg High School, Clarksburg, MD, USA
  • Hawa Camara

DOI:

https://doi.org/10.47611/jsrhs.v12i4.5776

Keywords:

Genome, Mutations, Functionality, genetic deterioration, neutral

Abstract

Mutations are held inside the human genome, which serves as an instruction manual for our body. The genome contains our total genetic parts, including our nucleotides, chromosomes, genes, DNA, and RNA. With the human mutation rate displaying a directly proportional relationship to each generation, concern has arisen amongst biologists. When looking at the continued accumulation of mutations, one could expect progressive decay within every function of humanity. However, the Primary Axiom would not be able to arise from this perspective. The Primary Axiom is an idea shaped by Neo-Darwinism, which states that the human race was born from one initial genome after a series of mutations and natural selection. In this paper we will review the deleterious nature of mutations and the continued deterioration of the human genome since its inception. I will start by explaining the effects of the continued accumulation of various mutations, and go on to address the process of natural selection. 

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Author Biography

Hawa Camara

Obtained a PhD in heathcare studying in Oceania. Works for a womens cancer research/screening company.

References or Bibliography

MULLER HJ. Our load of mutations. Am J Hum Genet. 1950 Jun;2(2):111-76. PMID: 14771033; PMCID: PMC1716299.

Campbell CD, Eichler EE. Properties and rates of germline mutations in humans. Trends Genet. 2013 Oct;29(10):575-84. doi: 10.1016/j.tig.2013.04.005. Epub 2013 May 16. PMID: 23684843; PMCID: PMC3785239.

Mandell JD, Cannataro VL, Townsend JP. Estimation of Neutral Mutation Rates and Quantification of Somatic Variant Selection Using cancereffectsizeR. Cancer Res. 2023 Feb 15;83(4):500-505. doi: 10.1158/0008-5472.CAN-22-1508. PMID: 36469362; PMCID: PMC9929515.

Muller HJ. The Measurement of Gene Mutation Rate in Drosophila, Its High Variability, and Its Dependence upon Temperature. Genetics. 1928 May;13(4):279–357.

John Sanford (2005), Genetic Entropy. ‎FMS Publications; 4th edition

David A. Plaisted 2001. A Creation Perspective. https://www.tasc-creationscience.org/other/plaisted/www.cs.unc.edu/_plaisted/ce/index.html

Kapranov P, Cheng J, Dike S, Nix DA, Duttagupta R, Willingham AT, Stadler PF, Hertel J, Hackermüller J, Hofacker IL, Bell I, Cheung E, Drenkow J, Dumais E, Patel S, Helt G, Ganesh M, Ghosh S, Piccolboni A, Sementchenko V, Tammana H, Gingeras TR. RNA maps reveal new RNA classes and a possible function for pervasive transcription. Science. 2007 Jun 8;316(5830):1484-8. doi: 10.1126/science.1138341. Epub 2007 May 17. PMID: 17510325.

Ponting CP, Hardison RC. What fraction of the human genome is functional? Genome Res. 2011 Nov;21(11):1769-76. doi: 10.1101/gr.116814.110. Epub 2011 Aug 29. PMID: 21875934; PMCID: PMC3205562.

Vollger MR, Guitart X, Dishuck PC, Mercuri L, Harvey WT, Gershman A, Diekhans M, Sulovari A, Munson KM, Lewis AP, Hoekzema K, Porubsky D, Li R, Nurk S, Koren S, Miga KH, Phillippy AM, Timp W, Ventura M, Eichler EE. Segmental duplications and their variation in a complete human genome. Science. 2022 Apr;376(6588):eabj6965. doi: 10.1126/science.abj6965. Epub 2022 Apr 1. PMID: 35357917; PMCID: PMC8979283.

Fisher, R. A. (1930). The genetical theory of natural selection. Clarendon Press. https://doi.org/10.5962/bhl.title.27468

Haldane, J.B.S. The cost of natural selection. J Genet 55, 511–524 (1957). https://doi.org/10.1007/BF02984069

Kimura, M. (1983). The Neutral Theory of Molecular Evolution. Cambridge: Cambridge University Press. https://doi.org/10.1017/CBO9780511623486

Muller HJ. Genetic Variability, Twin Hybrids and Constant Hybrids, in a Case of Balanced Lethal Factors. Genetics. 1918 Sep;3(5):422–499.

Wright S. The Distribution of Gene Frequencies in Populations. Proc Natl Acad Sci U S A. 1937 Jun;23(6):307–320.

Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A 2010. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 20: 110–121

Pheasant M, Mattick JS 2007. Raising the estimate of functional human sequences. Genome Res 17: 1245–1253

Parker SC, Hansen L, Abaan HO, Tullius TD, Margulies EH 2009. Local DNA topography correlates with functional noncoding regions of the human genome. Science 324: 389–392

Ponting CP, Nellaker C, Meader S 2011. Rapid turnover of functional sequence in human and other genomes. Annu Rev Genomics Hum Genet (in press). doi: 10.1146/annurev-genom-090810-183115

Neel JV. The detection of the genetic carriers of hereditary disease. Am J Hum Genet. 1949 Sep;1(1):19–36.

Sherer NA, Kuhlman TE. Escherichia coli with a Tunable Point Mutation Rate for Evolution Experiments. G3 (Bethesda). 2020 Aug 5;10(8):2671-2681. doi: 10.1534/g3.120.401124. PMID: 32503807; PMCID: PMC7407472.

Robert L., Ollion J., Robert J., Song X., Matic I. et al., 2018. Mutation dynamics and fitness effects followed in single cells. Science 359: 1283–1286. 10.1126/science.aan0797

Graves CJ, Weinreich DM. Variability in fitness effects can preclude selection of the fittest. Annu Rev Ecol Evol Syst. 2017;48(1):399-417. doi: 10.1146/annurev-ecolsys-110316-022722. Epub 2017 Aug 28. PMID: 31572069; PMCID: PMC6768565.

Published

11-30-2023

How to Cite

Spasic, K., & Camara, H. . (2023). The Deterioration of the Human Genome Through Mutation Accumulation. Journal of Student Research, 12(4). https://doi.org/10.47611/jsrhs.v12i4.5776

Issue

Section

HS Review Projects