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General Studies 3 >> Science & Technology

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1. Context

A new study published in the May 10, 2023 issue of the Nature Journal describes a pangenome reference map, built using genomes from 47 anonymous individuals (19 men and 28 women), mainly from Africa but also from the Caribbean, Americas, East Asia, and Europe.  

2. What is a Genome?

  • The genome is the blueprint of life, a collection of all the genes and the regions between the genes contained in our 23 pairs of chromosomes.
  • Each chromosome is a contagious stretch of a DNA string. In other words, our genome consists of 23 different strings, each composed of millions of individual building blocks called nucleotides and bases.
  • The four types of building blocks (A, T, G, and C) are arranged and repeated millions of times in different combinations to make all of our 23 chromosomes.

3. Genome Sequencing

  • Genome sequencing is the method used to determine the precise order of the four letters and how they are arranged in chromosomes. 
  • Sequencing individual genomes helps us understand human diversity at the genetic level and how prone we are to certain diseases.
  • The genome is an identity card like Aadhaar. As each of our Aadhar cards is unique, so is our genome.
  • As sequencing individual genomes of all humans is expensive, we do not yet have all our genome identity cards.
  • To circumvent this, one can have a collective identity card. For example, we can have a single genome identity card for everyone living in a region.

4. What is a reference Genome?

  • Genomes are newly sequenced and compared to a reference map called a reference genome.
  • This helps us to understand the regions of differences between the newly sequenced genome and the reference genome.
  • One of this century's scientific breakthroughs was making the first reference genome in 2001.
  • It helped scientists discover thousands of genes linked to various diseases; better understand diseases like cancer at the genetic level; and design novel diagnostic tests.
  • Although a remarkable feat, the reference genome of 2001 was 92% complete and contained many gaps and errors.
  • Additionally, it was not representative of all human beings as it was built using mostly the genome of a single individual or mixed African and European ancestry.
  • Since then, the reference genome map has been refined and improved to have complete end-to-end sequences of all 23 human chromosomes.

5. What is a pangenome map?

  • Unlike the earlier reference genome, which is a linear sequence, the pangenome is a graph.
  • The graph of each chromosome is like a bamboo stem with nodes where a stretch of the sequence of all 47 individuals converges (similar), and internodes of varying lengths represent genetic variations among individuals from different ancestries.
  • To create complete and contiguous chromosome maps in the pangenome project, the researchers used long-read DNA sequencing technologies, which produce strings of contiguous DNA strands of tens of thousands of nucleotides long.
  • Using longer reads helps assemble the sequence with minimum errors and read through the repetitive regions of the chromosomes which are hard to sequence with short read technologies used earlier.

6. Why is a Pangenome map Important?

  • Although any two humans are more than 99% similar in their DNA, there is still about a 0.4% difference between any two individuals.
  • This may be a small percentage, but considering that the human genome consists of 3.2 billion individual nucleotides, the difference between any two individuals is a whopping 12.8 million nucleotides. 
  • A complete and error-free human pangenome map will help us understand those differences and explain human diversity better. It will also help us understand genetic variants in some populations, which result in underlying health conditions.
  • The Pangenome reference map has added nearly 119 million new letters to the existing genome map and has already aided the discovery of 150 new genes linked to autism.
  • Although the project is a leap forward, genomes from many populations are still not a part of it.
  • For example, genomes from more people from Africa, the Indian subcontinent, indigenous groups in Asia and Oceania and West Asian regions are not represented in the current version of the Pangenome map.
  • Even though the current map does not contain genome sequences from Indians, it will help map Indian genomes better against the error-free and complete reference genomes known so far.
  • Future pangenome maps that include high-quality genomes from Indians, including from many endogamous and isolated populations within the country, will shed light on disease prevalence, help discover new genes for rare diseases, design better diagnostic methods, and help discover novel drugs against those diseases.
For Prelims: Genes, Genome Sequencing, Chromosome, DNA String, Building blocks (A, T, G, and C), Reference Genome, Pangenome, Pangenome Map, West Asian regions, Asain Continent.
For Mains: 1. What is genome sequencing and why is it important? Why is the reference genome map considered one of the most important scientific breakthroughs? (250 Words)

Previous year Question

1. With reference to agriculture in India, how can the technique of ‘genome sequencing’, often seen in the news, be used in the immediate future? (UPSC 2017)
1. Genome sequencing can be used to identify genetic markers for disease resistance and drought tolerance in various crop plants.
2. This technique helps in reducing the time required to develop new varieties of crop plants.
3. It can be used to decipher the host-pathogen relationships in crops.

Select the correct answer using the code given below:

A. 1 only
B.  2 and 3 only
C.  1 and 3 only
D. 1, 2 and 3

Answer: D

2. What is the Cas9 protein that is often mentioned in the news? (UPSC 2019)

A. A molecular scissors used in targeted gene editing
B. A biosensor used in the accurate detection of pathogens in patients
C. A gene that makes plants pest-resistant
D. A herbicidal substance synthesized in genetically modified crops

Answer: A

Source: The Hindu

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