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

RNA Splicing01:32

RNA Splicing

56.4K
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...
56.4K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.2K
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...
21.2K
Pleiotropy01:33

Pleiotropy

40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

11.5K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.5K
X-linked Traits01:19

X-linked Traits

54.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.9K
Sex-linked Disorders01:43

Sex-linked Disorders

102.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.2K

You might also read

Related Articles

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

Sort by
Same author

Beyond renal response: sustained systemic disease control protects against adverse long-term outcomes in lupus nephritis.

Lupus science & medicine·2026
Same author

Treat-to-target in Behçet syndrome.

Nature reviews. Rheumatology·2026
Same author

Distinct pattern of comorbidities hinders treatment target attainment in SLE through persistent disease activity and delayed glucocorticoid tapering: longitudinal data from a multicentre cohort study.

RMD open·2026
Same author

Difficult to manage axial spondyloarthritis patients have high burden of pain-related comorbidities and adverse long-term outcome.

Arthritis research & therapy·2026
Same author

DNA damage in macrophages drives immune autoreactivity via nuclear antigen presentation.

Nature aging·2026
Same author

Novel vascular damage markers in SLE: insights from carotid colour Doppler ultrasound and aortic oscillometry in the LUPCARD cohort.

RMD open·2025

Related Experiment Video

Updated: Jul 9, 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

5.6K

Extensive Alternative Splicing Patterns in Systemic Lupus Erythematosus Highlight Sexual Differences.

Despoina Kosmara1,2, Sofia Papanikolaou1,3, Christoforos Nikolaou3

  • 1Rheumatology and Clinical Immunology, University Hospital of Heraklion and University of Crete Medical School, 71500 Heraklion, Greece.

Cells
|December 9, 2023
PubMed
Summary

Sex differences in alternative splicing (AS) are widespread in systemic lupus erythematosus (SLE) and healthy individuals. These splicing variations, particularly in SLE, offer new insights into autoimmunity's sexual dimorphism.

Keywords:
alternative splicingautoimmunitygenomic variationintron retentionsex

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

13.0K
Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

13.0K

Related Experiment Videos

Last Updated: Jul 9, 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

5.6K
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

13.0K
Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

13.0K

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Immune responses exhibit significant sex-based differences, with women prone to autoimmunity and men experiencing more severe disease presentations.
  • The underlying molecular mechanisms driving this sexual dimorphism in autoimmune disorders remain largely unknown.
  • Systemic lupus erythematosus (SLE) serves as a key model for studying sex-biased autoimmune diseases.

Purpose of the Study:

  • To comprehensively analyze sex differences in whole-blood gene expression, with a specific focus on alternative splicing (AS) events in SLE.
  • To investigate the prevalence and nature of sex-dependent AS in both SLE patients and healthy individuals.
  • To identify distinct gene sets and molecular pathways affected by sex-biased AS in SLE compared to healthy states.

Main Methods:

  • Whole-blood RNA sequencing was performed on 79 active SLE patients and 58 matched healthy controls.
  • Analysis focused on identifying and quantifying alternative splicing events across different sexes and disease states.
  • Differential gene expression and splicing analyses were conducted to compare sex-specific patterns.

Main Results:

  • Sex differences in splicing events were prevalent in both SLE patients and healthy controls.
  • Distinct gene sets and molecular pathways were targeted by sex-dependent AS in SLE patients versus healthy subjects.
  • Notable sex dissimilarities were observed in intron retention events, with SLE-specific sexually differential spliced genes enriched in chromatin remodeling, stress, and inflammatory responses.
  • The magnitude of sex differences in AS surpassed those in overall gene expression.

Conclusions:

  • This study reveals significant and widespread variations in sex-dependent alternative splicing in both SLE and healthy individuals.
  • The findings highlight the critical role of AS in the sexual dimorphism observed in autoimmunity.
  • Understanding these sex-specific splicing patterns may provide novel therapeutic targets for autoimmune diseases.