In a study published online in Genome Research (www.genome.org), researchers have identified a novel mutation in a gene associated with CRD in dogs, raising hopes that potential therapies can be developed for people suffering from these eye disorders.
CRD represents a heterogeneous set of disorders characterized by progressive loss of retinal cone function. As these photoreceptor cells allow us to see in bright light, loss of cones results in what is commonly known as dayblindness, and can advance to blindness altogether. Thus far, investigations into the genetic basis for autosomal recessively inherited cases of human CRD have turned up only a few genes associated with the disorder, therefore it is likely there are other genes associated with CRD not yet identified.
Eye disorders are one of the most frequently inherited disorders in dogs, however canine CRD is limited to only a few breeds. A gene mutation had previously been associated with CRD in the miniature long-haired dachshund, while a genetic basis for CRD in the standard wire-haired dachshund and the pit bull terrier remained unknown. In this study, scientists led by Dr. Frode Lingaas of the Norwegian School of Veterinary Science and Dr. Kerstin Lindblad-Toh of the Broad Institute of MIT and Harvard have identified a mutation in a novel gene for early-onset CRD in standard wire-haired dachshund by genome-wide association mapping of a dachshund family.
The genome-wide strategy utilized by Lingaas' group isolated a region on chromosome 5 associated with CRD in dachshund. A search for mutations of this area revealed that a portion of the nephronophthisis 4 (NPHP4) gene has been deleted and is likely responsible for recessively inherited CRD in the standard wire-haired dachshund. The finding is particularly interesting, as the human form of NPHP4 has been previously implicated in disease. "This gene has been associated with a combination of kidney and eye disease in human patients," explained Lingaas. "Here, we found a mutation that affects only the eyes, suggesting that this gene might be a candidate for human patients with eye disease only."
The researchers suggest that the protein coded for by the mutant form of NPHP4 may lack a domain that would normally interact with other proteins involved in eye function, yet still retain the region involved in kidney function. "The new information that the NPHP4 gene can be involved in eye diseases only can shed light on the etiology of some low-frequency eye diseases in people where similar mutations may be involved," Lindblad-Toh said.
Lingaas noted that identification of causal mutations for diseases has practical implications for dogs, as genetic tests could be implemented to avoid new cases of the disorder and reduce the frequency of the mutation in the population. Furthermore, this investigation of the genetic basis for CRD in dogs could facilitate the development of treatments for humans.
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy