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

Alternative RNA Splicing02:18

Alternative RNA Splicing

21.0K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.0K
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
Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

5.2K
5.2K
RNA Splicing01:32

RNA Splicing

56.1K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.1K
Genetics of Speciation02:16

Genetics of Speciation

19.1K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
19.1K
Exon Recombination02:32

Exon Recombination

3.6K
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...
3.6K

You might also read

Related Articles

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

Sort by
Same author

Low Intake of Zinc and Vitamin D Is Associated with High Blood Lead Level Proportion Amongst Male Workers with Lead Exposure.

Nutrients·2026
Same author

A global map for introgressed structural variation and selection in humans.

Science (New York, N.Y.)·2026
Same author

Orchestrating multi-state QTL analysis with bioconductor.

BMC bioinformatics·2026
Same author

AutoCumulus: an automated mammographic density measure created using artificial intelligence.

BMC cancer·2026
Same author

Lift&Add-rapid and robust addition of new species to alignments of conserved non-coding sequences.

Bioinformatics (Oxford, England)·2026
Same author

G6PD deficiency in Indonesia: a systematic review and update of prevalence and variant maps in the context of malaria elimination.

The Lancet regional health. Western Pacific·2026

Related Experiment Video

Updated: Jun 11, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

5.4K

Profiling genetically driven alternative splicing across the Indonesian archipelago.

Neke Ibeh1, Pradiptajati Kusuma2, Chelzie Crenna Darusallam2

  • 1School of BioSciences, University of Melbourne, Parkville, VIC 3010, Australia; Melbourne Integrative Genomics, University of Melbourne, Parkville, VIC 3010, Australia; Bioinformatics and Cellular Genomics, St Vincents Institute of Medical Research, Fitzroy, VIC 3065, Australia; Human Genomics and Evolution, St Vincent's Institute of Medical Research, Fitzroy, VIC 3065, Australia.

American Journal of Human Genetics
|October 9, 2024
PubMed
Summary
This summary is machine-generated.

This study reveals how genetic variation influences alternative splicing (AS) in Indonesian populations, identifying over 6,000 splicing quantitative trait loci (sQTLs) that impact gene regulation, particularly in immune genes.

Keywords:
IndonesiaIsland Southeast AsiaPapuanRNA-seqalternative splicinghuman diversitysQTLtranscriptomics

More Related Videos

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

13.7K
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.8K

Related Experiment Videos

Last Updated: Jun 11, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

5.4K
Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

13.7K
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.8K

Area of Science:

  • Genomics
  • Molecular Biology
  • Population Genetics

Background:

  • Alternative splicing (AS) is a key gene regulatory mechanism impacting human biology, disease, and immunity.
  • Understanding AS variation across diverse populations and its genetic underpinnings is crucial but remains limited.
  • Island Southeast Asia presents a unique genetic landscape for studying human population diversity and gene regulation.

Purpose of the Study:

  • To investigate the landscape of alternative splicing (AS) across three Indonesian island populations.
  • To identify genetic variants associated with splicing changes (splicing quantitative trait loci [sQTLs]).
  • To explore the functional consequences of identified sQTLs on gene regulation, especially for immune genes.

Main Methods:

  • Analysis of alternative splicing events in 115 Indonesian samples from three island populations.
  • Utilized an event-based statistical model to detect differential AS.
  • Identified splicing quantitative trait loci (sQTLs) and predicted their impact on RNA binding activity.

Main Results:

  • Detected over 1,500 significant differential AS events across inter-island comparisons.
  • Identified over 6,000 genetic variants associated with splicing changes (sQTLs), with some linked to Papuan-like ancestry.
  • Found partial overlap with existing sQTL datasets and identified sQTLs potentially modulating immune gene splicing.

Conclusions:

  • Genetic variation significantly shapes alternative splicing patterns in diverse human populations.
  • Identified novel sQTLs in Indonesians, highlighting the importance of studying underrepresented populations.
  • Findings provide insights into the role of genetic variation in immune gene regulation within a highly diverse region.