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Related Concept Videos

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.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Genome Copying Errors02:46

Genome Copying Errors

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.
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 Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Duplication of Chromatin Structure02:05

Duplication of Chromatin Structure

The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...

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Related Experiment Video

Updated: Jun 25, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Duplication count distributions in DNA sequences.

Suzanne S Sindi1, Brian R Hunt, James A Yorke

  • 1Institute for Physical Sciences and Technology, University of Maryland, College Park, Maryland 20742, USA. suzanne_sindi@brown.edu

Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics
|March 5, 2009
PubMed
Summary
This summary is machine-generated.

Complex repetitive DNA sequences show a slow, power-law-like decay in duplication counts. This pattern challenges evolutionary models assuming equal duplication likelihood for all DNA sequences.

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Capturing Chromosome Conformation Across Length Scales
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Capturing Chromosome Conformation Across Length Scales

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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Repetitive DNA elements are significant components of eukaryotic genomes.
  • Understanding the quantitative features of repetitive DNA is crucial for deciphering genome evolution and function.
  • Previous studies have focused on specific types of repetitive elements, leaving a gap in the analysis of complex, non-tandem repeats.

Purpose of the Study:

  • To quantitatively analyze the occurrence and distribution of complex repetitive DNA sequences across multiple genomes.
  • To investigate the duplication patterns of 40-mer sequences (sequences of length 40) and their implications for evolutionary models.
  • To identify distinct categories of complex repeated 40-mers based on their genomic distribution.

Main Methods:

  • Identification and counting of all unique 40-mer sequences within several genomes.
  • Classification of 40-mers as 'repeated' if their duplication count is at least 2.
  • Focus on 'complex' 40-mers, defined as those lacking short internal repetitions.
  • Categorization of repeated 40-mers into clustered (on a single chromosome) and dispersed (across multiple chromosomes) groups.
  • Computation of N(c), the number of 40-mers with duplication count c, for each category.

Main Results:

  • Most complex repeated 40-mers fall into two categories: clustered or dispersed.
  • A power-law-like decay in N(c) was observed for both categories as duplication count (c) increased.
  • This observed decay is significantly slower than predicted by models assuming equal duplication probability for all 40-mers.
  • An evolutionary model was analyzed that better reflects the observed slow decay pattern.

Conclusions:

  • The duplication patterns of complex repetitive DNA exhibit a slow decay, suggesting non-random evolutionary processes.
  • Genomic distribution (clustered vs. dispersed) is a key feature differentiating complex repeats.
  • Existing evolutionary models may need refinement to account for the observed duplication statistics of complex DNA sequences.