Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

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%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...

Exon Recombination

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...

Gene Duplication and Divergence

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...

Genome Copying Errors

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.

Viral Recombination

Viral Recombination

Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

A Chromosome-Level Genome Assembly and Annotation of the Chinese Porcupine (<i>Hystrix hodgsoni</i>) Reveals the Expansion of Olfactory-Related Gene Families.

Genes·2026

Same author

Mutational signatures of environmental carcinogens in human tissue organoids revealed by duplex sequencing.

Cell reports·2026

Same author

Coming to light: the transcriptional regulatory roles of histone lysine crotonylation in health and disease.

Cellular & molecular biology letters·2026

Same author

Engineering a T7 bacteriophage to attenuate LPS-driven inflammatory responses during bacteriolysis.

Applied and environmental microbiology·2026

Same author

Single-cell template strand sequencing reveals culture-induced chromosomal instability in a gibbon cell line.

Genome research·2026

Same author

Genomic Analysis and Population Divergence Driven by Geographic Isolation in <i>Neotetracus sinensis</i>.

Ecology and evolution·2026

Search research articles

Related Experiment Video

Updated: Mar 8, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series.

Nzar A A Shwan^1,2, Sandra Louzada³, Fengtang Yang³

¹School of Life Sciences, University of Nottingham, Medical School, Queen's Medical Centre, Nottingham, UK.

|January 20, 2017

Summary

Human amylase gene copy number variation (CNV) is linked to diet and obesity. This study reveals new amylase CNV series in Africans and complex genomic rearrangements, highlighting the amylase gene region

Keywords:

CNV adaptation genomic instability genomic mutation

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Related Experiment Videos

Last Updated: Mar 8, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Area of Science:

Genomics
Human Evolution
Population Genetics

Background:

The human amylase gene cluster (AMY1, AMY2A, AMY2B) is a dynamic genomic region.
Copy number variation (CNV) in AMY1 is associated with dietary adaptation and obesity, but requires replication.
The structural genomic basis of amylase CNV is not fully understood.

Purpose of the Study:

To define new allelic series of amylase CNVs in sub-Saharan Africans.
To investigate the structural genomic basis and complexity of amylase CNVs.
To understand the evolutionary history of the human amylase gene cluster.

Main Methods:

High-resolution copy number analysis.
Segregation analysis in trios.
Fiber-FISH (fluorescence in situ hybridization) for detailed structural analysis.

Main Results:

Discovery of new, independent allelic series of amylase CNVs in sub-Saharan Africans.
Identification of higher-order expansions involving AMY1, AMY2A, and AMY2B.
Revealed unexpected complexity and recurrent genomic instability in the amylase gene region, with at least five independent rearrangements of AMY2A and AMY2B.
Structural similarities suggest an ancestral state with multiple AMY1 copies.

Conclusions:

The amylase gene region is prone to recurrent genomic instability.
The ancestral human amylase cluster likely contained multiple copies of AMY1.
These findings provide a deeper understanding of the structural genomics underlying amylase CNV and its evolutionary implications.