Malinois dogs are working animals known for being used by the Secret Service to guard the White House. These dogs, a subtype of the Belgian Shepherd breed, are robust, with an average life expectancy of 10-12 years. But some puppies are afflicted by a genetic condition called spongy degeneration with cerebellar ataxia (SDCA). A puppy diagnosed with SDCA quickly loses all coordination and needs to be put down. In the August issue of G3, Mauri et al. report the genetic cause of one type of SDCA, a finding that will allow breeders to eliminate the problem from their lines.
The group previously showed that there is more than one type of SDCA in Belgian Shepherds. They identified causal mutations in one gene, KCNJ10, but that gene didn’t account for all cases of SDCA. In their current study, they examined the genomes of several other affected puppies and found mutations in a gene called ATP1B2. Since this was a different gene than identified previously, they propose to call the new form of the disorder affecting these puppies SDCA2.
ATP1B2 encodes a subunit of the enzyme Na+/K+-ATPase, a protein complex essential for maintaining ion gradients across the cell membrane. In guinea pigs, inhibiting the enzyme causes seizures and makes the brain take on a spongy appearance, similar to that found in dogs with SDCA. Mice without their version of ATP1B2 also have spongy brains and rapidly progressing motor disturbances. Although no ATP1B2 variants have been found in humans, mutations in genes encoding the other subunits of Na+/K+-ATPase cause neurological problems, such as certain types of migraines and a fast-onset form of Parkinsonism.
The function of ATP1B2 is also similar to that of the gene that causes SDCA1. Both are involved in maintaining potassium homeostasis—especially in the cerebellum—further substantiating the conclusion that mutations in ATP1B2 are the cause of SDCA2. The evidence presented by Mauri et al. will enable development of genetic tests for both types of SDCA. Now that they’ve found that mutations in ATP1B2 cause SDCA2 in dogs, checking people with family histories of cerebellar disorders without known causes for problems with ATP1B2 might provide insight into previously inexplicable conditions.
CITATION:
Mauri, N.; Kleiter, M.; Dietschi, E.; Leschnik, M.; Högler, S.; Wiedmer, M.; Dietrich, J.; Henke, D.; Steffen, F.; Schuller, S.; Gurtner, C.; Stokar-Regenscheit, N.; O’Toole, D.; Bilzer, T.; Herden, C.; Oevermann, A.; Jagannathan, B.; Leeb, T.
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
G3, 7(8), 2729-2737.
DOI: 10.1534/g3.117.043018
http://www.g3journal.org/content/7/8/2729
Nicole Haloupek is a freelance science writer and a recent graduate of UC Berkeley's molecular and cell biology PhD program.
View all posts by Nicole Haloupek »Read more in
-
Hongyu Zhao joins GENETICS as new Senior Editor
A new senior editor is joining GENETICS in the Statistical Genetics and Genomics section. We’re excited to welcome Hongyu Zhao to the editorial team. Hongyu ZhaoSenior Editor Hongyu Zhao is the Ira V. Hiscock Professor of Biostatistics, Professor of Genetics, and Professor of Statistics and Data Science at Yale University. He received his BS in…
-
GSA Member Julio Molina Pineda Receives DeLill Nasser Award, Shines at TAGC 2024
“At any career stage, the GSA membership is an amazing investment for any genetics professional!” Julio Molina Pineda is a PhD Candidate in Cell and Molecular Biology and a Research Assistant at the University of Arkansas, and a Doctoral Academy Fellow at the Lewis Lab. In 2023, Julio was awarded the DeLill Nasser Award for…
-
In Memoriam: Ellsworth Herman Grell (1932–2023), a pioneer of Drosophila genome engineering and annotation
Ellsworth (Ed) Grell blessed the Drosophila community through three enduring legacies: as a pioneer of chromosome mechanics, as a primary organizer and synthesizer of genetic knowledge in Drosophila, and as a graceful mentor to those fortunate to have known him personally. Ed grew up in rural Nebraska, completed his undergraduate studies at Iowa State, and…
-
Congratulations to the #Fungal24 Poster Award winners!
We are pleased to announce the recipients of the GSA Poster Awards for posters presented at the 32nd Fungal Genetics Conference! Undergraduate and graduate student members of GSA were eligible for the awards, and a hard-working team of judges made the determinations. Congratulations to all! Felicia Ebot Ojong, The University of Georgia My research is focused…
-
Poster presentation tips for TAGC 2024
You’ve been selected to present a poster at The Allied Genetics Conference 2024 in March—you’ve celebrated, made plans to attend, now what? This is an exciting opportunity to showcase your research and engage with fellow members of the genetics community, so you want to make sure you’re prepared. We wanted to offer you some tips…
-
Maximize your TAGC 2024 experience
A guide to all that National Harbor & DC have to offer Are you joining us for The Allied Genetics Conference 2024 in March? Make the most of your #TAGC24 experience in National Harbor! We know the science will keep you busy, but you deserve to unwind and have some fun, so we’ve curated a…
-
Early Career Leadership Spotlight: Sarah Petrosky
We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates. Sarah PetroskyMultimedia SubcommitteeUniversity of Pittsburgh Research Interest I am interested in understanding adaptation that has been happening recently in populations by dissecting the ways that genes underlying an adaptation…
-
TAGC 2024 Early Career Award Winners
GSA is pleased to announce the winners of the early career awards presented at The Allied Genetics Conference 2024. These awards are specific to particular TAGC communities and recognize early career scientists’ outstanding work on their respective research organisms. The awardees will present their talks in keynote sessions at TAGC 2024. Don’t miss the opportunity…
-
Preeminent geneticists recognized with revamped GSA Awards
In 2022, GSA’s Board of Directors launched an audit to review the five major awards conferred by the Society. Today, we are thrilled to announce the recipients of the reimagined GSA Awards, including the new Genetics Society of America Early Career Medal. The scientists honored this year are recognized by their peers for their outstanding…
-
Fly Board funds outreach programs to spread the word about Drosophila research
In 2020, the Fly Board voted to use part of its reserve fund to support efforts to increase trainee participation as well as equity and diversity in the Drosophila community. An awards committee decides how the money will be spent each year, and from 2020–2022, the committee posted a very broad call for applications from…
-
New members of the GSA Board of Directors: 2024–2026
We are pleased to announce the election of four new leaders to the GSA Board of Directors: 2024 Vice President/2025 President Brenda Andrews Professor, University of Toronto It’s an honor to continue my association with the Society by serving as Vice President of the Board of Directors. I have broad knowledge of the ongoing activities…