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

Pleiotropy01:33

Pleiotropy

43.1K
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,...
43.1K
Multiple Allele Traits01:49

Multiple Allele Traits

37.8K
The Concept of Multiple Allelism
37.8K
Ribosome Profiling02:24

Ribosome Profiling

4.0K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
4.0K

You might also read

Related Articles

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

Sort by
Same author

Inhibitory potential of autologous neutralizing antibodies sets quantitative limits on the rebound-competent HIV-1 reservoir.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Development of an automated, imaging-based preoperative screening model for early identification of malnutrition in an abdominal surgery cohort.

medRxiv : the preprint server for health sciences·2026
Same author

Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.

Nature genetics·2026
Same author

Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.

Molecular psychiatry·2026
Same author

Effect of Substrate Moisture Content on the Growth of an Exotic Species, <i>Myriophyllum aquaticum</i>.

Plants (Basel, Switzerland)·2026
Same author

Cardiovascular-Kidney-Metabolic Syndrome: Conceptualising an Approach to Health Economic Modelling.

Diabetes, obesity & metabolism·2026
Same journal

The BRCA1-A complex restricts replication fork reversal-dependent DNA repair in ATM deficient cells.

Nature communications·2026
Same journal

Signaling downstream of tumor-stroma interaction regulates mucinous colorectal adenocarcinoma apicobasal polarity.

Nature communications·2026
Same journal

Click-polymerized polyenamine membranes for efficient lithium extraction.

Nature communications·2026
Same journal

Joint trajectories of brain atrophy, white matter hyperintensities and cognition quantify brain maintenance.

Nature communications·2026
Same journal

Proton shuttling at electrochemical interfaces under alkaline hydrogen evolution.

Nature communications·2026
Same journal

metilene<sup>3</sup>: identifying DMRs across multiple conditions with auto-classification.

Nature communications·2026
See all related articles

Related Experiment Video

Updated: Jan 8, 2026

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

13.4K

Mapping rare protein-coding variants on multi-organ imaging traits.

Yijun Fan1, Jie Chen2, Zirui Fan3

  • 1Department of Statistics, University of Chicago, Chicago, IL, USA.

Nature Communications
|December 23, 2025
PubMed
Summary
This summary is machine-generated.

This study explored rare genetic variations and their impact on human organ structure and function using magnetic resonance imaging (MRI) data from over 50,000 individuals. Researchers identified significant gene-trait associations, enhancing our understanding of organ morphology and disease connections.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K

Related Experiment Videos

Last Updated: Jan 8, 2026

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

13.4K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K

Area of Science:

  • Genetics
  • Medical Imaging
  • Human Physiology

Background:

  • Human organ structure and function are key indicators of clinical outcomes.
  • Genome-wide association studies (GWAS) have linked common genetic variants to brain and body phenotypes from magnetic resonance imaging (MRI).
  • The impact of rare protein-coding variations on organ size and function remains largely unexplored.

Purpose of the Study:

  • To conduct an exome-wide association study (EWAS) investigating rare genetic variants across multiple organ systems.
  • To evaluate 596 multi-organ MRI traits in a large cohort to uncover novel genetic associations.
  • To understand the role of rare coding variations in human organ morphology and function.

Main Methods:

  • Performed an exome-wide association study on 596 multi-organ MRI traits.
  • Analyzed data from over 50,000 individuals in the UK Biobank.
  • Utilized singleton burden models and AlphaMissense annotations to identify gene-trait pairs.

Main Results:

  • Identified 107 variant-level and 224 gene-based associations across various MRI modalities.
  • Discovered specific associations, including PTEN with total brain volume, TTN with heart function, and TNFRSF13B with spleen volume.
  • Found 8 unique gene-trait pairs using singleton burden models and AlphaMissense, including a link between KCNA5 and brain activity.

Conclusions:

  • Rare coding variants significantly contribute to understanding genetic effects on human organ morphology and function.
  • The findings highlight shared genetic influences across different organs and prioritize loci identified by previous GWAS.
  • The study identified numerous drug targets and provides insights into the genetic underpinnings of complex diseases.