The JMG:SHROOM4 gene plays an important role in embryonic development

A study led by the Medical School of the University of Bonn in Germany found a gene
that plays an important role in the development of human embryos.
If it changes, it can lead to deformities
in various organ systems.
This gene appeared
early in evolution.
It is also present in zebrafish and plays a similar role
.
The results of the study were recently published in the Journal of Medical Genetics
.

The researchers tracked down the gene
when they studied two individuals with congenital malformations.
Dr Gabriel Dworschak from the University of Bonn explains: "It was a man and his niece
.
Both men had malformations in the kidneys, urinary tract and esophagus, as well as the man's right arm and heart
.
”

So the team analyzed the genetic makeup
of these family members.
They found an anomaly: the altered SHROOM4 gene in diseased individuals compared to healthy individuals
.

The SHROOM4 gene is not new to researchers, as it plays a key role in brain function, and mutations in it can cause intellectual disability, seizures, and behavioral abnormalities
.
"Our findings suggest that it may play a broader role in embryonic organ development," Dworschak explains
.

The research team in Bonn began looking internationally for other cases
of abnormalities in the SHROOM4 gene.
"Together with our partners, we identified four more affected individuals from three more families," said
senior author Professor Heiko Reutter.
"All of them had the SHROOM4 gene, but in different ways
.
"

However, this still does not explain whether the SHROOM4 variant actually causes malformations
.
However, zebrafish also have very similar genes
.
In many of today's genetic studies, it acts as a model organism—not only because it's easy to feed and multiply quickly, but also because the skin of the larvae is almost transparent, which makes it easy to observe the embryonic development
of animals under a light microscope.

Dr.
Caroline Kolvenbach from the University of Bonn School of Medicine emphasizes: "At the University Hospital we have the advantage that the research team led by Professor Benjamin Odermatt of the Institute of Neuroanatomy has carried out a lot of research
on zebrafish.
This expertise comes in handy in our research
.
”

The researchers almost completely inactivated SHROOM4
in zebrafish larvae.
Subsequently, the animals developed deformities
similar to those of the patient.
On the other hand, if the larvae inactivated by SHROOM4 were injected with intact human genetic material, their development returned to almost normal
.
"This first suggests that a functional SHROOM4 is needed for the healthy development of zebrafish; Second, human genes can replace the function of fish genes," Dworschak said
.

Now, the team wants to understand what role
the gene plays in embryonic development.
"We think it's necessary for fundamental processes in cells," Dworschak says
.
"It's hard to explain why variations in a single gene cause so many symptoms
.
"

How mice or humans develop from fertilized eggs is still not fully understood
.
A fertilized egg is capable of forming any type of tissue in an organism, including bones, skin, muscles, and brains
.
Its daughter cells are also theoretically totipotent, but in the early stages, certain programs in the cell are activated, irreversibly determining their developmental fate
.

This process must be very finely coordinated to ensure that the eye forms in the proper position on the face, while other cells that are close together differentiate into nasal cartilage
.
Surprisingly, however, there was no conductor waving the baton
.
Dworschak said: "Our study is just a small piece of the puzzle, and the puzzle is still largely incomplete
.
”

Original search

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems