UPSC MainsBOTANY-PAPER-II201515 Marks
Q12.

Describe the numerical variation in chromosomes.

How to Approach

This question requires a detailed understanding of chromosomal variations. The answer should begin by defining numerical variations in chromosomes (aneuploidy and euploidy). It should then systematically explain different types of aneuploidy (monosomy, trisomy, nullisomy, polysomy) with examples. Euploidy should be discussed, including autopolyploidy and allopolyploidy, again with relevant examples. The answer should be structured to clearly differentiate between these variations and their consequences. Focus on providing biological examples to illustrate the concepts.

Model Answer

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Introduction

Chromosomal variations are alterations in the normal chromosome number of a species. These variations can be broadly categorized into numerical and structural changes. Numerical variations, also known as heteroploidy, involve the gain or loss of entire chromosomes. This can manifest as changes in the entire set of chromosomes (euploidy) or changes in a particular number of chromosomes (aneuploidy). Understanding these variations is crucial in comprehending genetic disorders, evolutionary processes, and plant breeding. These changes often lead to phenotypic alterations and can have significant consequences for organismal viability and fertility.

Aneuploidy: Variation in a Particular Number of Chromosomes

Aneuploidy refers to the condition where there is an abnormal number of chromosomes in a cell, differing from the normal diploid (2n) number. This arises due to non-disjunction during meiosis, leading to gametes with an abnormal chromosome count.

Types of Aneuploidy

  • Monosomy (2n-1): Loss of a single chromosome from a diploid set. Example: Turner syndrome in humans (XO), where females have only one X chromosome.
  • Trisomy (2n+1): Presence of an extra chromosome in a diploid set. Example: Down syndrome in humans (2n+1, chromosome 21), Klinefelter syndrome (XXY), and Patau syndrome (Trisomy 13).
  • Nullisomy (2n-2): Complete absence of a pair of chromosomes. Generally lethal in animals.
  • Polysomy (2n+1 or more): Presence of more than one extra set of a particular chromosome. Example: Triploid plants (3n) are sometimes viable.

Euploidy: Variation in the Entire Set of Chromosomes

Euploidy involves changes in the entire genome, resulting in a multiple of the haploid (n) chromosome number. This can occur through complete genome duplication or through the addition of entire sets of chromosomes.

Types of Euploidy

  • Autopolyploidy: The organism acquires one or more additional sets of its own chromosomes. This often occurs due to errors in meiosis or mitosis.
    • Triploidy (3n): Possession of three sets of chromosomes. Common in plants, often resulting in sterility.
    • Tetraploidy (4n): Possession of four sets of chromosomes. Can lead to increased size and vigor in plants.
    Example: Seedless bananas are triploid (3x) and are propagated vegetatively.
  • Allopolyploidy: The organism acquires sets of chromosomes from two or more different species through hybridization, followed by genome duplication. This is a significant mechanism in plant speciation.
    • Amphidiploidy: A specific type of allopolyploidy where complete sets of chromosomes from two different species are combined.
    Example: Raphanobrassica, a hybrid between radish (Raphanus sativus, 2n=18) and cabbage (Brassica oleracea, 2n=18), is an allopolyploid (2n=36).

Consequences of Numerical Chromosomal Variations

Numerical chromosomal variations often lead to significant phenotypic effects. Aneuploidy frequently results in developmental abnormalities, reduced fertility, and increased risk of genetic disorders. Euploidy, particularly allopolyploidy, can lead to the formation of new species with altered characteristics. The severity of the effects depends on the specific chromosomes involved and the degree of imbalance.

Variation Type Description Example Typical Outcome
Monosomy Loss of one chromosome Turner Syndrome (XO) Sterility, developmental abnormalities
Trisomy Gain of one chromosome Down Syndrome (2n+1, chromosome 21) Intellectual disability, characteristic facial features
Autopolyploidy Duplication of own genome Seedless Bananas (3n) Increased size, sterility
Allopolyploidy Combination of genomes from different species Raphanobrassica (radish x cabbage) New species formation, altered characteristics

Conclusion

Numerical variations in chromosomes, encompassing both aneuploidy and euploidy, represent significant alterations in genome organization. These variations arise from errors in cell division and can have profound consequences for organismal development, fertility, and evolution. While often detrimental in animals, euploidy, particularly allopolyploidy, plays a crucial role in plant speciation and crop improvement. Understanding these variations is fundamental to comprehending the complexities of genetics and the diversity of life.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Haploid (n)
A cell or organism containing only one set of chromosomes.
Diploid (2n)
A cell or organism containing two sets of chromosomes, one inherited from each parent.

Key Statistics

Approximately 1 in 700 babies are born with Down syndrome (Trisomy 21) globally.

Source: National Down Syndrome Society (NDSS), 2023 (Knowledge Cutoff: 2023)

Around 95% of conceptions with Trisomy 21 result in miscarriage.

Source: American Pregnancy Association, 2022 (Knowledge Cutoff: 2023)

Examples

Wheat Evolution

Modern bread wheat (<em>Triticum aestivum</em>) is an allohexaploid (2n=6x=42) resulting from multiple hybridization events involving different <em>Triticum</em> and <em>Aegilops</em> species.

Potato Breeding

Tetraploid potatoes (4x) are commonly cultivated due to their increased yield and disease resistance compared to diploid varieties.

Frequently Asked Questions

What is the difference between aneuploidy and polyploidy?

Aneuploidy involves a change in the number of *individual* chromosomes, while polyploidy involves a change in the *entire* set of chromosomes.

Can aneuploidy occur in plants?

Yes, aneuploidy can occur in plants, but it is often less detrimental than in animals due to the greater tolerance of plants to genome imbalance and their ability to undergo vegetative propagation.

Topics Covered

BiologyGeneticsChromosomesAneuploidyPolyploidyMutations