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Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

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...

Hedgehog Signaling Pathway

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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...

Apoptosis

Apoptosis

Apoptosis is a combination of two Greek words, 'apo' and 'ptosis,' meaning separation and falling off, respectively. Hippocrates used this word to describe gangrene, which was caused due to bandaging of fractured bones. Apoptosis was distinguished from necrosis in 1970 when John Kerr reported observations of morphological changes occurring during apoptosis. During one experiment, he observed that the disruption of blood supply to the liver tissue resulted in a size reduction of the tissue.

The Extrinsic Apoptotic Pathway

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Related Experiment Video

Updated: May 9, 2026

Analyzing Craniofacial Morphogenesis in Zebrafish Using 4D Confocal Microscopy

Analyzing Craniofacial Morphogenesis in Zebrafish Using 4D Confocal Microscopy

Published on: January 30, 2014

Apaf1 apoptotic function critically limits Sonic hedgehog signaling during craniofacial development.

A B Long¹, W J Kaiser, E S Mocarski

¹Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Cell Death and Differentiation

|July 30, 2013

Summary

This summary is machine-generated.

A new mouse mutant, yautja, reveals that a stable Apaf1 protein lacking apoptotic function causes craniofacial and nervous system defects. This study illuminates the critical role of apoptosis in embryonic development and Sonic hedgehog signaling.

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Published on: April 1, 2022

Area of Science:

Molecular Biology
Developmental Biology
Genetics

Background:

Apaf1 is essential for apoptosome assembly and apoptosis execution in mammals.
The apoptosome forms when cytochrome c binds Apaf1, activating caspase 9.
Apaf1's role in development, particularly craniofacial development, is not fully understood.

Purpose of the Study:

To identify and characterize a novel mouse mutant affecting Apaf1 function.
To investigate the in vivo consequences of a non-functional Apaf1 protein.
To explore the relationship between Apaf1, apoptosis, and craniofacial development.

Main Methods:

Generation and characterization of the 'yautja' mouse mutant.
Analysis of Apaf1 protein stability and apoptotic function in vitro and in vivo.
Examination of embryonic development, focusing on craniofacial and nervous system defects.
Investigation of Sonic hedgehog (Shh) signaling pathways.

Main Results:

The yautja mutation results in a leucine-to-proline substitution in the Apaf1 winged-helix domain.
Mutant Apaf1 protein is stable but lacks apoptotic function.
Mutant embryos exhibit perinatal lethality with craniofacial and nervous system abnormalities.
Altered Shh signaling and increased mesenchymal proliferation were observed in craniofacial development.
Reduced apoptosis levels were detected in mutant embryos.

Conclusions:

A stable, non-functional Apaf1 protein disrupts normal embryonic development, leading to specific craniofacial and nervous system defects.
Apaf1-mediated apoptosis is crucial for proper craniofacial sculpting, interacting with Shh signaling.
The yautja mutant provides a valuable tool for studying programmed cell death regulation in vivo.