261 New Genes Linked to Hereditary Blindness and Eye Disease

261 New Genes Linked to Hereditary Blindness and Eye Disease

Researchers at the University of California Davis School of Medicine and Eye Center have identified 261 new genes in mice that have been linked to blindness and other hereditary vision disorders.

The researchers used data from the International Mouse Phenotyping Consortium, the main goal of which is to identify the function of every gene in the mouse genome. This has been achieved by creating lines of mice that are missing a single gene and screening the mice for the effects of that gene. The Consortium researchers have identified the functions of thousands of genes that are linked to inherited disorders, including those that cause deafness and blindness.

More than 7,000 gene knockout mice have been generated and the functions of 4,364 genes have been characterized across 11 organ systems. 86 genes are known to be associated with eye disease or some aspect of vision.

The researchers at UC Davis used the Consortium database to identify possible genes associated with vision and eye disease. The team identified 347 genes in total, of which 261 genes were not previously known to be linked to eye disease.

The genomes of humans and mice are naturally different, although there are similarities and most genes in humans have a counterpart in mice. The researchers are now collaborating with eye research centers at Houston’s Baylor College of Medicine and the University of Iowa to establish the human counterparts to the 261 new genes that they have identified. Once a match has been made with the mouse genes, patients with hereditary blindness for which the cause cannot be established can be screened for the newly identified genes.

Currently, patients who have hereditary blindness can be tested to determine the cause; however, it is not always possible to determine where a genetic mutation has occurred.

“If someone has a form of hereditary blindness, we can identify the cause 50 to 75 percent of the time,” said Ala Moshiri, associate professor of ophthalmology and vision science at UC Davis, School of Medicine and Eye Center. “In the remaining cases, we know the mutation is there, but we don’t know where to look. Now eye centers that do DNA sequencing can call back patients and screen them for these new genes.”

The research is detailed in the paper – Identification of genes required for eye development by high-throughput screening of mouse knockouts – which was recently published in Nature Communications Biology. DOI: 10.1038/s42003-018-0226-0

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