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

Non-Canonical Wnt Signaling Pathways01:41

Non-Canonical Wnt Signaling Pathways

7.4K
Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
7.4K
Canonical Wnt Signaling Pathway02:54

Canonical Wnt Signaling Pathway

8.9K
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
8.9K
Notch Signaling Pathway03:14

Notch Signaling Pathway

4.4K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.4K
Regulation of Hematopoietic Stem Cells01:01

Regulation of Hematopoietic Stem Cells

3.3K
All blood and immune cells are produced from the multipotent hematopoietic stem cells (HSCs) by the process of hematopoiesis. However, they all have a limited life span. In addition, many are depleted in immune surveillance or combatting an injury or infection. This makes blood one of the most regenerative tissues. Hematopoiesis helps replenish these blood and immune cells, restoring the body's normal functioning. However, overproduction of blood and immune cells can make them cancerous or...
3.3K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.2K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

7.5K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.5K

You might also read

Related Articles

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

Sort by
Same author

Cleavage of MEP-1 by DPF-3 reveals novel substrate specificity and its impact on reproductive fitness.

EMBO reports·2026
Same author

A sensitized model of thrombosis validates known multigenic relationships and suggests novel modifiers of hemostasis.

bioRxiv : the preprint server for biology·2026
Same author

In vivo single-cell RNA metabolic labeling resolves early transcriptional responders in the regenerating zebrafish heart.

Nature communications·2026
Same author

An in vitro menstrual cycle using organoids captures epithelial cell transitions during menstruation and regeneration of the human endometrium.

Cell stem cell·2026
Same author

Resilience to Cardiac Aging in Greenland Shark Somniosus microcephalus.

Aging cell·2026
Same author

Models of the human heart for biomedical research: Opportunities and challenges.

Physiological reports·2026
Same journal

The Drosophila ovarian terminal filament imports lipophilic molecules that support cyst and follicle development within the ovariole.

Developmental biology·2026
Same journal

Secreted Frizzled-Related Protein 1 Controls Distal Lung Formation via Wnt and PDGF Signaling.

Developmental biology·2026
Same journal

The vascular-osteogenic interface in craniofacial development: a structured review of emerging associations in congenital malformations.

Developmental biology·2026
Same journal

Turning off metamorphosis: Thyroid hormone deregulation in the evolution of obligately paedomorphic salamanders.

Developmental biology·2026
Same journal

Developmental analysis of the cone photoreceptor-less little skate retina reveals distinct Onecut1 isoforms.

Developmental biology·2026
Same journal

Germline cysts require Ecdysone receptor for proper timing of encapsulation in the Drosophila ovary.

Developmental biology·2026
See all related articles

Related Experiment Video

Updated: Sep 9, 2025

Combining Intravital Fluorescent Microscopy IVFM with Genetic Models to Study Engraftment Dynamics of Hematopoietic Cells to Bone Marrow Niches
11:06

Combining Intravital Fluorescent Microscopy IVFM with Genetic Models to Study Engraftment Dynamics of Hematopoietic Cells to Bone Marrow Niches

Published on: March 21, 2017

8.0K

Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling.

Agnese Kocere1, Elena Chiavacci2, Charlotte Soneson3

  • 1Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Molecular Life Sciences, University of Zürich, Zürich, Switzerland.

Developmental Biology
|September 4, 2025
PubMed
Summary
This summary is machine-generated.

Thrombocytopenia-Absent Radius (TAR) syndrome arises from RBM8A mutations affecting mRNA processing. This study reveals that impaired RBM8A function disrupts Wnt/PCP signaling, leading to developmental defects in zebrafish.

Keywords:
DevelopmentHematopoiesisMorphogenesisNon-canonical wntThrombocytopeniaZebrafish

More Related Videos

Retroviral Infection of Murine Embryonic Stem Cell Derived Embryoid Body Cells for Analysis of Hematopoietic Differentiation
11:40

Retroviral Infection of Murine Embryonic Stem Cell Derived Embryoid Body Cells for Analysis of Hematopoietic Differentiation

Published on: October 20, 2014

8.6K
Modeling Paracrine Noncanonical Wnt Signaling In Vitro
11:14

Modeling Paracrine Noncanonical Wnt Signaling In Vitro

Published on: December 10, 2021

1.6K

Related Experiment Videos

Last Updated: Sep 9, 2025

Combining Intravital Fluorescent Microscopy IVFM with Genetic Models to Study Engraftment Dynamics of Hematopoietic Cells to Bone Marrow Niches
11:06

Combining Intravital Fluorescent Microscopy IVFM with Genetic Models to Study Engraftment Dynamics of Hematopoietic Cells to Bone Marrow Niches

Published on: March 21, 2017

8.0K
Retroviral Infection of Murine Embryonic Stem Cell Derived Embryoid Body Cells for Analysis of Hematopoietic Differentiation
11:40

Retroviral Infection of Murine Embryonic Stem Cell Derived Embryoid Body Cells for Analysis of Hematopoietic Differentiation

Published on: October 20, 2014

8.6K
Modeling Paracrine Noncanonical Wnt Signaling In Vitro
11:14

Modeling Paracrine Noncanonical Wnt Signaling In Vitro

Published on: December 10, 2021

1.6K

Area of Science:

  • Developmental Biology
  • Genetics
  • Hematology

Background:

  • Thrombocytopenia-Absent Radius (TAR) syndrome is a rare genetic disorder characterized by low platelet counts and limb abnormalities.
  • Mutations in RBM8A, a component of the exon junction complex, are implicated in TAR syndrome.
  • The precise mechanisms by which RBM8A dysfunction leads to specific TAR phenotypes are not fully understood.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying TAR syndrome phenotypes in a zebrafish model.
  • To explore the role of non-canonical Wnt/Planar Cell Polarity (PCP) signaling in RBM8A-associated developmental defects.
  • To identify key developmental pathways affected by reduced RBM8A function.

Main Methods:

  • Utilized zebrafish models with hypomorphic or null mutations in the rbm8a gene.
  • Analyzed hematopoietic cell populations (cd41-positive thrombocytes).
  • Assessed mRNA integrity and intron retention.
  • Investigated interactions between rbm8a and non-canonical Wnt/PCP pathway genes (wnt5b, wnt11f2, fzd7a, vangl2).
  • Examined the expression of hematopoietic and endothelial genes (runx1, gfi1aa).

Main Results:

  • Zebrafish rbm8a perturbation led to reduced thrombocyte counts and accumulation of mRNAs with retained introns.
  • Impaired rbm8a function disrupted non-canonical Wnt/PCP signaling, causing convergent extension defects.
  • Reduced rbm8a function interacted with PCP pathway gene perturbations, affecting lateral plate mesoderm (LPM) development.
  • Mutants exhibited impaired expression of critical hematopoietic/endothelial genes, runx1 and gfi1aa.

Conclusions:

  • Aberrant lateral plate mesoderm (LPM) patterning is a key consequence of attenuated non-canonical Wnt/PCP signaling in rbm8a mutants.
  • Hematopoietic defects observed in TAR syndrome models are linked to disrupted Wnt/PCP signaling pathways.
  • This study provides a mechanistic link between mRNA processing defects and specific developmental abnormalities in TAR syndrome.