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GENOMICS: DNA VARIANTS AND MUTATIONS

by | Feb 4, 2022 | Biotechnology

Genomics is the branch of molecular biology concerned with functions, structure, evolution, editing, and mapping of the Genome. So in order to understand genomics, let us first know what a Genome is. The overall genetic information stored within an organism is known as Genome. So now we know that Genomics is the study revolving around the understanding and manipulation of the Genome. In this field of biology, we also study intragenomic phenomena that occur within the Genome, such as

“Thomas H Roderick” coined the term Genomics in 1987. The Genome includes sequencing of the Genome, determination of the complete set of Genomes encoded by the organism, and functioning of gene and metabolic pathway of an organism.

mutation

A Human Genome consists of 3 billion base pairs in DNA. Characteristics are described by the arrangement of these base pairs.

RESEARCH AREAS OF GENOMICS

The research analysis on Genomics is categorized into two broad categories, i.e., Structural Genomics and Functional Genomics.

1. STRUCTURAL GENOMICS

Structural Genomics deals with determining the complete Genome sequence or complete set of proteins produced by an organism. This research also includes determining the 3D structure of the protein encoded by the Genome.

STRUCTURAL GENOMICS

 

2. FUNCTIONAL GENOMICS

Functional Genomics is a science that deals with the sequencing of the Genome. In this, we study gene and metabolic pathways and gene expression patterns in organisms.

DNA OR GENOMIC VARIANT

The human genome consists of a complete set of genetic information. Its size spans about 6 ft of DNA, containing more than 30,000 genes. Humans are 99.9% identical at the level of their genes, but the 0.1 % of variations among the human Genome make them different. That 0.1% difference in DNA defines each individuality. These differences in the base pairs are called variations, and a sequence showing variation is known as a variant. The variant can be of two types:

1. Single nucleotides variants

Each set of three polynucleotides is encoded by different amino acids, and a single nucleotide variation can cause changes in the chain.

single nucleotide variation

2. Frameshift variants

If there is a change in the number of nucleotides by insertion or deletion, it can cause frameshift variants. And these can result in a negative impact on protein functions. indel (insertion or deletion)

 

MUTATION

A mutation is when there is a change and damage in the DNA that causes changes in genetic information. Mutagen is the physical, chemical, and biological agent that causes mutation by altering genetic material. So to conclude, Mutation is basically Mutagen-induced changes.

Mutation can be of two types:

1. Gene mutation

Gene mutations are the changes in the fine structure of genes. The gene mutations include changes in the number or arrangement of nucleotides in the genes. Gene mutation can be of two types:

  • Point mutation: Point mutation is the gene mutation that occurs due to changes in a single nucleotide.

types mutation

  • Frameshift mutation: Deletion or addition in the nucleotides with the changes in numbers causes the frameshift mutation.

mutation type

2. Chromosomal mutation

Chromosomal mutation involves the modification in the morphology of structures of chromosomes. This mutation is of two types:

  • Euploidy:

Euploidy is the chromosomal mutation that includes the additional loss of a complete one set of more than one set of chromosomes in a diploid organism. In euploidy, there is a duplication of the same genome.

  • Aneuploidy

There is a loss or addition of one or more chromosomes to the haploid genome in aneuploidy.

CONCLUSION

So what we understand from this article is that the similarities and differences in the characters between the parents and offspring or the siblings you notice often are not coincidental. The children get these characteristics from their parents or grandparents. Genomes consist of genes that consist of genetic information that transfers from one generation to another generation. And to know the variation among the genes and genomes, Genomics is the interdisciplinary science to deal with it.

 

Author

  • The author has done a master's in Environmental science and is currently working as chief Environmental Advisor with New Delhi State Government.

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