#gene mutations

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How Tumours Grow

Compared with cells at the centre of a tumour, those on the surface are adjacent to healthy, blood-supplied tissues. This fact led to the hypothesis that cells divide rapidly at the surface of a tumour but rarely at its core. A recent spatial genomics analysis of hundreds of liver cancer samples from various positions and depths within tumours revealed, however, this isn’t the case. Liver cancer cells show uniform growth throughout the tumour mass. The analysis mapped cells bearing new mutations, finding their descendants were located in all directions, not just outward (as would occur with surface-only cell division). Validation was gained through computer models, like the one pictured, which shows mutations spreading uniformly through a tumour to a greater (red) or lesser (blue) extent. Since novel cancer mutations can confer resistance to drugs or immune detection, knowing how and where they arise will inform future tumour-tackling therapies.

Written by Ruth Williams

Image from work by Arman Angaji and colleagues

Institute for Biological Physics, University of Cologne, Cologne, Germany

Image contributed by the authors under a Creative Commons Attribution 4.0 International (CC BY 4.0) licence

Published in eLife, November 2024

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Types of gene mutations...in a GIF! :D

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Super Rare ‘Gothic’ Chicken Is 100% Black – Including His Bones, Blood, And Beak

Now and again, mesmerizing and rare species of the animal kingdom present themselves. 

And, we’ll bet this is the first time you’ve ever beheld a completely black chicken. 

The unique bird, known as the Ayam Cemani, is one of the most exotic and mysterious breeds in the world, reports CemaniFarms. From the chicken’s silky feathers to her internal organs, she is completely black.

Reportedly, the effect is caused by a condition called fibromelanosis, which is a harmless genetic mutation. 

When the bird is in embryo, extra melanin seeps into the creature’s tissues, resulting in incredibly rare Cemani chicks.

The Cemani is from Indonesia and has inspired Javanese folklore since the 12th century. 

Some believe the bird’s blood is a delicacy of spirits that bring power and wealth, and even serves as a good luck charm.

One thing’s for sure, the rare chicken is a creature to marvel at!

via Bored Panda [This article was originally published by True Activist]

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TANGO to Muscle

Zebrafish model for studying how mutations in the TANGO2 gene underlie the usually inherited susceptibility to the life-threatening disorder in humans called rhabomyolysis in which injured skeletal muscle rapidly breaks down

Read the published research paper here

Image from work by Euri S. Kim and colleagues

Division of Genetics, Department of Medicine, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Disease Models & Mechanisms, September 2023 and on the cover

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Notch the Protector

As we age, our DNA acquires mutations. While the majority are harmless, some mutations can cause uncontrolled cell growth leading to cancer. By middle-age, the human oesophagus has developed into a patchwork of mutated cells. If those mutations do cause tumours, they can be hard to treat as symptoms appear once it has already started spreading. Researchers analysed the mutations in cells of the oesophagus in the over-50s. They discovered that most of them had mutations in a gene called NOTCH1. But this mutation was very rare in oesophageal cancers. To try and solve this mystery, the researchers removed Notch1 (pink) from mice (right) with oesophageal tumours (pictured, various colours) and tumour size was clearly reduced. Losing NOTCH1 appears to be a protective mutation against oesophageal cancer. If we can understand how this protection occurs, we could find new therapies that block NOTCH1 to treat these cancers.

Written by Sophie Arthur

Image adapted from work by Emilie Abby and colleagues

Wellcome Sanger Institute, Hinxton, UK

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Nature Genetics, January 2023

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Overcompensating

Like a large business needs an internal communications team and efficient post room to keep everything working smoothly together, cells require systems to keep departments in tune. Nucleoporins are proteins that ferry essential messages from the nucleus (the cell’s HQ) to other areas, but mutations linked to these can play a role in cancer development. To understand why, researchers examined protein production in fruit fly wings (pictured, nucleoporins labelled green) when certain nucleoporins are disabled. Without them, cell cycles were disrupted, and both cell death and cell replication increased. The extra proliferation of material compensates for the cell death, but if nucleoporin failures coincide with other mutations that block cell death, unrestricted growth occurs and cancers arise. This revealed that nucleoporin mutations change protein synthesis, which impacts cell signalling to cause compensatory growth, and can, in combination with other factors, cause cancer, highlighting them as a potential target for future treatments.

Written by Anthony Lewis

Image from work by Ajai J. Pulianmackal and colleagues

Molecular Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI, USA

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Image on cover of Disease Models & Mechanisms, March 2022

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On the Spot

Biomedical discoveries can come from unexpected places. In a prime example, recent research has uncovered surprising links between the genetics of colouration in geckos and human skin cancer. Popular pets, leopard geckos (Eublepharis macularius) have been bred to produce many different colour varieties. For those of the Lemon Frost form (pictured), their striking colour pattern comes at a cost: more than 80% of them develop skin tumours, known as iridophoroma. By tracking the Lemon Frost pattern in a breeding colony of geckos, and sequencing their DNA, scientists were able to identify the region of DNA controlling this unusual appearance. Within it lies a single gene, SPINT1, known to function as a tumour suppressor, and mutations of which are involved in several forms of cancer, including skin cutaneous melanoma (SKCM) in humans. Linking a key gene to a visible colour difference could make leopard geckos a useful model for studying SKCM in the future.

Written by Emmanuelle Briolat

Image from work by Longhua Guo and colleagues

Department of Human Genetics, Department of Biological Chemistry, Howard Hughes Medical Institute, University of California, Los Angeles, CA, USA

Image copyright held by the original authors

Research published in PLOS Genetics, June 2021

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