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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Genome Copying Errors02:46

Genome Copying Errors

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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.
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Complementation Tests00:49

Complementation Tests

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A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
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Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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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...
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Related Experiment Video

Updated: Feb 27, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Genomic variability in Mexican chicken population using copy number variants.

E Gorla1, M C Cozzi1, S I Román-Ponce2

  • 1Department of Veterinary Medicine, Universitá degli Studi di Milano, Via Celoria 10, 20133, Milan, Italy.

BMC Genetics
|July 5, 2017
PubMed
Summary

Copy number variations (CNVs) reveal genetic diversity in Mexican Creole chickens. This study provides a new CNV map for this unselected population, highlighting its structural genomic variations.

Keywords:
ChickenCopy number variantGenetic variability

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Area of Science:

  • Genomics
  • Population Genetics
  • Animal Breeding

Background:

  • Copy number variations (CNVs) are key genome polymorphisms influencing phenotypic and genetic variation.
  • Understanding structural variations is crucial for characterizing livestock populations.
  • The Mexican Creole chicken population, known for morphological diversity, lacked genetic characterization.

Purpose of the Study:

  • To investigate the genetic variability within the Mexican Creole chicken population using CNVs.
  • To create a comprehensive CNV map for this native chicken breed.
  • To assess the population structure based on genomic data.

Main Methods:

  • Utilized the PennCNV software with a Hidden Markov Model to detect CNVs.
  • Analyzed 256 Mexican Creole chicken genomes using the Axiom® Genome-Wide Chicken Genotyping Array.
  • Mapped 1924 CNVs, identifying 1538 gains and 386 losses, forming 1216 CNV regions (CNVRs).

Main Results:

  • Detected 1924 CNVs across 256 individuals, with 1538 gains and 386 losses.
  • Identified 1216 CNV regions (CNVRs), covering 47 Mb (5.12%) of the chicken genome.
  • The study revealed no distinct genetic subpopulations despite significant morphological variation.

Conclusions:

  • Provides deep insight into the structural variation of an unselected Mexican chicken population.
  • The Mexican Creole chicken population, despite morphological diversity, is genetically homogeneous.
  • Generated a valuable chicken CNV map and genome-wide copy number estimates for a native, unselected breed.