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Transposable
elements in
Human
(Their Genetic & Evolutionary Significance)
Dr. Mausam Ghosh
Transposable Genetic Elements-Part IV
BTH-102 Unit 4
Transposable Genetic Elements in Human
• Transposable elements (TEs) occupy almost half, 46%, of the human
genome, making the TE content of our genome one of the highest
among mammals
• It is approximately 300 bases long and can be found between 3 lakhs
and one million times in the human genome
• Alu alone is estimated to make up 15–17% of the human genome
• Significance:
1. Transposable elements affect genome evolution promoting
recombination, disturbing cellular genes or control elements, and
carrying genes or exons to new locations
2. DNA transposons can be used to introduce a piece of foreign DNA
into a genome. Thus, DNA transposons are useful tools to analyze
the regulatory genome, study embryonic development, identify
genes and pathways implicated in disease or pathogenesis of
pathogens, and even contribute to gene therapy
3. The ability of transposons to increase genetic diversity
is an important part of evolution and gene regulation in all
organisms that carry these sequences
Human Transposons their location and phenotypes (Diseases)
Thank you
References:
1. Gardner/Simmons/Snustad. (2006). Principal of Genetics. 8th Edition
2. Klug, W.S.,Cummings. (2003). Concepts of genetics, 7th Edition

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11. Transposable Genetic Elements Part 4.pptx

  • 1. Transposable elements in Human (Their Genetic & Evolutionary Significance) Dr. Mausam Ghosh Transposable Genetic Elements-Part IV BTH-102 Unit 4
  • 2. Transposable Genetic Elements in Human • Transposable elements (TEs) occupy almost half, 46%, of the human genome, making the TE content of our genome one of the highest among mammals • It is approximately 300 bases long and can be found between 3 lakhs and one million times in the human genome • Alu alone is estimated to make up 15–17% of the human genome • Significance: 1. Transposable elements affect genome evolution promoting recombination, disturbing cellular genes or control elements, and carrying genes or exons to new locations 2. DNA transposons can be used to introduce a piece of foreign DNA into a genome. Thus, DNA transposons are useful tools to analyze the regulatory genome, study embryonic development, identify genes and pathways implicated in disease or pathogenesis of pathogens, and even contribute to gene therapy 3. The ability of transposons to increase genetic diversity is an important part of evolution and gene regulation in all organisms that carry these sequences
  • 3. Human Transposons their location and phenotypes (Diseases)
  • 4. Thank you References: 1. Gardner/Simmons/Snustad. (2006). Principal of Genetics. 8th Edition 2. Klug, W.S.,Cummings. (2003). Concepts of genetics, 7th Edition