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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.4K
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%...
17.4K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.1K
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,...
14.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.5K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

3.9K
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...
3.9K
Gene Families01:57

Gene Families

8.8K
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...
8.8K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

6.1K
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...
6.1K

You might also read

Related Articles

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

Sort by
Same author

Genetically supported drug target prioritization for rare diseases.

Genome medicine·2026
Same author

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

HGG advances·2026
Same author

Genome-wide detection of human 5' UTR variants that impact protein translation.

American journal of human genetics·2026
Same author

Ancestry-specific performance of variant effect predictors in clinical variant classification.

bioRxiv : the preprint server for biology·2026
Same author

Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPI.

bioRxiv : the preprint server for biology·2026
Same author

A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammals.

Molecular biology and evolution·2026
Same journal

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Human genetics·2026
Same journal

Blending borders: reconstructing the genetic history of the Sindhi population.

Human genetics·2026
Same journal

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Human genetics·2026
Same journal

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Human genetics·2026
Same journal

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026
Same journal

AI in variant analysis: fast track to genetic diagnoses.

Human genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 8, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.8K

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Mónica Lopes-Marques1, M João Peixoto2, David N Cooper3

  • 1CIIMAR-Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Porto, Portugal. mmarques@ciimar.up.pt.

Human Genetics
|November 3, 2024
PubMed
Summary
This summary is machine-generated.

Polymorphic pseudogenes, with active coding alleles, impact human olfactory signaling, drug metabolism, and immunity. Genetic redundancy may compensate for gene inactivation, offering insights into genome evolution.

Keywords:
Gene essentialityGene lossLoss of functionPolymorphic pseudogenePopulation analysis

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Related Experiment Videos

Last Updated: Jun 8, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.8K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Area of Science:

  • Genomics
  • Human Genetics
  • Population Genetics

Background:

  • Human genome research increasingly identifies variations in coding regions.
  • Polymorphic pseudogenes, with unfixed inactivating mutations, represent a unique, understudied genomic feature.
  • These pseudogenes harbor both coding and non-coding alleles from Loss-of-Function (LoF) mutations, present across populations.

Purpose of the Study:

  • To investigate the impact of polymorphic pseudogenes on human biological systems.
  • To analyze the prevalence and functional implications of Loss-of-Function (LoF) variants in pseudogenes across human populations.

Main Methods:

  • Cross-population analysis of 232 polymorphic pseudogenes, including 35 novel examples.
  • Transcriptome and proteome analysis to assess gene activity in the presence of LoF alleles.
  • Examination of gene family membership to explore genetic redundancy.

Main Results:

  • Human olfactory signaling, drug metabolism, and immunity are significantly affected by polymorphic pseudogenes.
  • 179 genes showed polymorphic LoF variants across all analyzed populations.
  • Genes with coding alleles remain functional, particularly in metabolic pathways and immune responses, despite harboring LoF variants.

Conclusions:

  • Polymorphic pseudogenes offer novel insights into human genome architecture and gene dynamics.
  • Their distribution and expression highlight the functional impact of gene gain and loss.
  • Genetic redundancy likely plays a crucial role in mitigating the effects of pseudogene inactivation.