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A Synonymous Germline Variant In A Gene Encoding A Cell Adhesion Molecule Is Associated With Cutaneous Mast Cell Tumour Development In Labrador And Golden Retrievers

A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers

Deborah Biasoli¹, Lara Compston-Garnett¹, Sally L Ricketts¹

¹Animal Health Trust, Newmarket, United Kingdom.

|March 23, 2019

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View abstract on PubMed

Summary

This summary is machine-generated.

A genetic variant in the DSCAM gene is linked to mast cell tumors in Labrador Retrievers. This finding sheds light on canine skin cancer and highlights the role of cell adhesion in tumor development.

Area of Science:

Veterinary Genetics
Canine Oncology
Molecular Biology

Background:

Mast cell tumors are the most common canine skin cancer.
The genetic basis for mast cell tumor development is largely unknown.
Certain dog breeds, like Labrador Retrievers, have a higher predisposition.

Purpose of the Study:

Identify germline genetic risk factors for mast cell tumors in Labrador Retrievers.
Investigate the role of the DSCAM gene in canine mast cell tumor development.

Main Methods:

Genome-wide association study (GWAS)
Targeted next-generation sequencing (NGS)
TaqMan genotyping

Main Results:

A synonymous variant in the DSCAM gene on canine chromosome 31 was associated with mast cell tumors in Labrador Retrievers.

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This variant reduced DSCAM protein levels without affecting mRNA levels, suggesting altered translation.

The DSCAM variant was also linked to mast cell tumors in Golden Retrievers.

Conclusions:

The identified DSCAM variant is a significant genetic risk factor for mast cell tumors in Labrador and Golden Retrievers.
Cell adhesion molecules, like DSCAM, play a crucial role in mast cell tumorigenesis.
Synonymous variants can have a substantial impact on complex diseases, including cancer.