Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

Pleiotropy

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,...

You might also read

Related Articles

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

Sort by

Same author

A New Supra-auricular Incision in Single-flap Auricular Reconstruction: A Retrospective Study.

Aesthetic plastic surgery·2026

Same author

Nanozyme-crosslinked dual-network hydrogel enables multi-stage modulation of the dysregulated repair cascade for regenerative wound healing.

Bioactive materials·2026

Same author

Deciphering Platelet Transcriptomic Profiles in Antiphospholipid Syndrome: Insights into Their Role as Immunological Players.

International journal of molecular sciences·2026

Same author

The application of tissue engineering in cartilage regeneration: technological advances and future challenges.

Frontiers in bioengineering and biotechnology·2026

Same author

4D-printed adaptive hydrogel tissue expanders for ear and breast reconstruction.

Nature biomedical engineering·2026

Same author

CRABP2 upregulation in perichondral stem cells is associated with microtia.

BMC medical genomics·2026

Search research articles

Related Experiment Video

Updated: Sep 6, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Bmp5 Mutation Alters circRNA Expression During Embryonic External Ear Development.

Wei Liu¹, Lin Lin¹, Qiushi Wang²

¹Plastic Surgery Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100144, China; and.

The Journal of Craniofacial Surgery

|June 29, 2022

Summary

BMP5 gene mutation causes microtia in mice. Circular RNA (circRNA) expression changes reveal altered gene regulation, impacting external ear development via pathways like Hippo signaling and stem cell pluripotency.

More Related Videos

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Horizontal Gel Electrophoresis for Enhanced Detection of Protein-RNA Complexes

Horizontal Gel Electrophoresis for Enhanced Detection of Protein-RNA Complexes

Published on: July 28, 2017

Related Experiment Videos

Last Updated: Sep 6, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Horizontal Gel Electrophoresis for Enhanced Detection of Protein-RNA Complexes

Horizontal Gel Electrophoresis for Enhanced Detection of Protein-RNA Complexes

Published on: July 28, 2017

Area of Science:

Developmental biology
Genetics
Molecular biology

Background:

BMP5 mutations are linked to microtia, a congenital ear defect.
The molecular mechanisms underlying BMP5-related microtia are not fully understood.
Circular RNAs (circRNAs) play roles in gene regulation and development.

Purpose of the Study:

To investigate circRNA expression changes in mouse embryos with a BMP5 mutation.
To identify circRNAs involved in regulating external ear development.
To elucidate the molecular pathways affected by BMP5 mutation during ear development.

Main Methods:

RNA sequencing of outer ear tissues from wild-type and BMP5-mutant mouse embryos (E15.5, E17.5).
Identification and analysis of differentially expressed circRNAs using find_circ and CiRi2 software.
Gene Ontology and KEGG pathway enrichment analyses for differentially expressed circRNAs.

Main Results:

Significant differences in circRNA expression profiles were observed between wild-type and mutant embryos.
At E15.5, differentially expressed circRNAs were associated with the Hippo signaling pathway.
At E17.5, differentially expressed circRNAs were linked to stem cell pluripotency regulation.

Conclusions:

CircRNAs are involved in the regulation of embryonic external ear development.
BMP5 mutation affects circRNA expression, influencing key developmental pathways.
This study provides a foundation for understanding the biological regulation of ear development in microtia.