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Related Concept Videos

Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Genome Copying Errors02:46

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Gene Conversion02:08

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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

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An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

Large-scale copy number polymorphism in the human genome.

Jonathan Sebat1, B Lakshmi, Jennifer Troge

  • 1Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

Science (New York, N.Y.)
|July 27, 2004
PubMed
Summary

Large copy number polymorphisms (CNPs) significantly impact human genetic variation. These substantial genomic alterations, affecting numerous genes, contribute to human diversity and may influence disease susceptibility.

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Area of Science:

  • Genetics
  • Genomics
  • Human Variation

Background:

  • The contribution of large duplications and deletions to human genetic variation remains largely unquantified.
  • Understanding genomic variation is crucial for comprehending human diversity and disease.

Purpose of the Study:

  • To investigate the extent to which large-scale copy number polymorphisms (CNPs) contribute to human genetic variation.
  • To characterize the size, frequency, and genetic content of CNPs in the human genome.

Main Methods:

  • Representational oligonucleotide microarray analysis (ROMA) was employed.
  • Genomic DNA from 20 healthy individuals was analyzed to detect copy number differences.

Main Results:

  • A total of 221 copy number differences, representing 76 unique CNPs (≥100 kilobases), were identified.
  • Individuals differed by an average of 11 CNPs, with an average CNP interval length of 465 kilobases.
  • Copy number variation was observed in 70 genes within CNP regions, including those related to neurological function, cell growth, metabolism, and disease.

Conclusions:

  • Large CNPs are a substantial source of genomic variation between normal individuals.
  • CNPs encompass genes with critical functions and known disease associations, highlighting their importance in human health and evolution.