Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Chromosome Structure02:40

Chromosome Structure

24.4K
A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
24.4K
Synteny and Evolution02:31

Synteny and Evolution

3.4K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.4K
Genetic Variation01:25

Genetic Variation

895
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,...
895
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.1K
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%...
18.1K
Nondisjunction01:21

Nondisjunction

4.2K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.2K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

4.4K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.4K

You might also read

Related Articles

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

Sort by
Same author

Mutations within the predicted fragment-binding region of FAM83G/SACK1G abolish its interaction with the Ser/Thr kinase CK1α.

Open biology·2026
Same author

PDBe: enhanced structural data exploration to facilitate discovery.

Nucleic acids research·2025
Same author

AlphaFold Protein Structure Database 2025: a redesigned interface and updated structural coverage.

Nucleic acids research·2025
Same author

Disruption of the mRNA m6A writer complex triggers autoimmunity in Arabidopsis.

PLoS genetics·2025
Same author

LIGYSIS-web: a resource for the analysis of protein-ligand binding sites.

Nucleic acids research·2025
Same author

A unified analysis of evolutionary and population constraint in protein domains highlights structural features and pathogenic sites.

Communications biology·2024

Related Experiment Video

Updated: Oct 23, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

951

Ankyrin repeats in context with human population variation.

Javier S Utgés1,2, Maxim I Tsenkov1, Noah J M Dietrich1

  • 1Division of Computational Biology, School of Life Sciences, University of Dundee, Scotland, United Kingdom.

Plos Computational Biology
|August 24, 2021
PubMed
Summary

Ankyrin repeats are common protein motifs. This study analyzes human variants in 7,407 ankyrin repeats, identifying key positions for protein structure and interactions, aiding in disease variant interpretation.

More Related Videos

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

8.8K
Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains
06:18

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains

Published on: November 30, 2021

4.4K

Related Experiment Videos

Last Updated: Oct 23, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

951
qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

8.8K
Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains
06:18

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains

Published on: November 30, 2021

4.4K

Area of Science:

  • * Molecular Biology
  • * Structural Biology
  • * Genomics

Background:

  • * Ankyrin repeats are prevalent protein motifs involved in diverse substrate binding.
  • * Understanding human population variants within these repeats is crucial for functional and evolutionary insights.
  • * Previous studies have not comprehensively analyzed population variant distribution across the ankyrin repeat family.

Purpose of the Study:

  • * To analyze the distribution of human population variants across a large dataset of ankyrin repeats.
  • * To investigate the relationship between variant distribution, evolutionary constraint, and structural features.
  • * To identify critical positions within ankyrin repeats related to protein structure, interactions, and function.

Main Methods:

  • * Collated a high-quality alignment of 7,407 ankyrin repeats.
  • * Analyzed human population variant data from large-scale sequencing of healthy individuals.
  • * Integrated variant data with evolutionary constraint, secondary structure, accessibility, and protein-protein interaction data from 383 3D structures.

Main Results:

  • * Identified five highly conserved positions depleted in human missense variants, crucial for repeat packing.
  • * Found evolutionarily divergent positions depleted in human missense variants and enriched in protein-protein interactions.
  • * Revealed three distinct surfaces on the ankyrin repeat domain with unique interaction and variant patterns.

Conclusions:

  • * Specific positions within ankyrin repeats are under strong evolutionary constraint and critical for structural integrity.
  • * Ankyrin repeat surfaces exhibit differential enrichment in protein-substrate interactions and population variant tolerance.
  • * Findings provide a framework for interpreting disease variants and engineering ankyrin-repeat proteins.