The Institute of Canine Biology
  • HOME
  • Blog
  • Courses
    • COI BootCamp (FREE!)
    • Basic Population Genetics (FREE)
    • The Science of Canine Husbandry
    • Managing Genetics For the Future >
      • Syllabus - Managing Genetics for the Future
    • The Biology of Dogs (Open Reg )
    • DNA For Dog Breeders >
      • Syllabus - DNA for Dog Breeders
      • Open Reg - DNA For Dog Breeders
    • Understanding Hip & Elbow Dysplasia >
      • Open Reg - Understanding Hip & Elbow Dysplasia
    • Genetics of Behavior & Performance >
      • Syllabus - Genetics Behavior & Performance
      • Open Reg - Genetics of Behavior & Performance (Open Reg)
    • Strategies for Preservation Breeding >
      • Open Reg - Strategies for Preservation Breeding
    • Group Discounts
    • MORE FREE COURSES >
      • Quickie Genetics (Free!)
      • Heredity & Genetics (Free!)
      • Useful Genetics (Free!)
      • Basic Genetics Videos
  • Breed Preservation
    • Breed Status
    • Breeding for the future >
      • BFF Breed Groups
    • The "Elevator Pitch"
    • What's in the Gene Pool?
    • The Pox of Popular Sires
    • What population genetics can tell us about a breed
    • What population genetics can tell you...Tollers & Heelers
    • How to use kinship data
    • Using EBVs to breed better dogs >
      • How population size affects inbreeding
      • EBV Examples
    • How to read a dendrogram
    • Global Pedigree Project >
      • The Database
    • Finding the genes without DNA
    • How to read a heat map
  • Health Data
    • Bloat (Purdue Study)
    • Body Condition Score >
      • % Dysplastic vs BCS
    • Breed Comparions
    • Cancer
    • Cardiac
    • Cataracts
    • Caesareans
    • Deafness
    • Degenerative Myelopathy
    • Elbow Dysplasia
    • Epilepsy
    • Genetic Diversity
    • Genetic Diversity (MyDogDNA)
    • Hip Dysplasia >
      • Hip Dysplasia (Hou et al 2013)
    • Inbreeding Effects
    • Inbreeding (Gubbels)
    • Inbreeding (Dreger)
    • Lifespan
    • Litter size
    • Metabolic
    • mtDNA
    • Orthopedic
    • Mode of Inheritance
    • Patella Luxation
    • Thyroid
    • Portosystemic shunt
    • Purebred vs Mixed (UC Davis)
    • Purebred vs Mixed Breed (Bonnett)
    • Spay & Neuter Effects
    • Calboli et al 2008
    • Hodgman (1963)
    • Scott & Fuller (1965)
    • Stockard: Purebred crosses
    • Summers (2011)
  • Projects
    • How To Interpret Breed Analyses
    • Afghan Hound
    • More details about the Toller study
    • Belgian Tervuren >
      • Belgian Terv p2
      • Belgians- why population size matters
    • Bernese Mountain Dog
    • Boxer
    • Brussels Griffon
    • Bullmastiff
    • Canaan Dog >
      • Canaan analyses
    • Cesky Terrier >
      • Cesky genetic history
    • Chinook
    • Curly-coated Retriever
    • Doberman
    • Entelbucher Mountain Dog
    • Flatcoat Retriever
    • French Bulldog
    • German Shorthair
    • Golden Retriever >
      • Golden Retriever Pedigree Charts
    • Irish Water Spaniel >
      • IWS (6 Nov 17)
    • Labrador Retriever
    • Manchester Terrier
    • Mongolian Bankhar >
      • Research Updates
      • Bankhar 1
    • Norwegian Lundehund
    • Plummer Terrier
    • Otterhound
    • Portuguese Water Dog >
      • Portuguese Water Dog (pt 2)
    • Ridgeback
    • Schipperke
    • Standard Poodle >
      • The Problem With Poodles
      • 3poodle pedigree charts
      • 3Poodle Wycliff dogs
      • Poodle Genetics
    • Tibetan Spaniel
    • Tibetan Mastiff
    • West Highland White Terrier
    • Whippet
    • Wirehaired Pointing Griffons
    • UK KC Graphs >
      • UK KC Breed Status
      • UK Groups
      • KC Gundogs
      • KC Hounds
      • KC Terriers >
        • Terriers (select breeds)
      • KC Pastoral
      • KC Toys
      • KC Working
      • KC Utility
      • Australian KC
    • Breed outcrossing programs
  • Resources
    • Genetics Databases
    • Stud Books >
      • American Kennel Club stud books
      • Field Dog stud books
      • The Kennel Club (UK)
    • Learn
    • Videos about dog genetics
    • The Amazing Things Dogs Do! (videos) >
      • Livestock Management
      • Livestock guarding
      • Transportation, exploration, racing
      • Conservation & wildlife management
      • Detection Dogs
      • Medicine & Research
      • Entertainment
      • AKC/CHF Podcasts
    • Read & Watch
    • Bookshelf
  • Preventing Uterine Inertia

No, we have NOT found the mutation that causes breathing problems in brachycephalic dogs

5/19/2019

 
By Carol Beuchat PhD

Let me say this again:


​No, we have NOT found the mutation that causes breathing problems in brachycephalic dogs.

​A paper has just been published that is being grossly misinterpreted by the press, and even by the Institute where the study was done (Marchant et al. 2019). This is the title of the study:
An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
​
Picture

​These are the critical points of the study:

A) Norwich Terrier
  • This is a study about breathing problems in the Norwich Terrier.
  • The study found a gene that causes swelling of the airway tissues of Norwich Terriers, which iinterferes with breathing.
  • The Norwich Terrier is not a brachycephalic breed.


B) Other breeds
  • They also found the mutation in most Bulldogs.
  • They found the mutation in only a few French Bulldogs.
  • They did not find the mutation in Pugs.

C) Brachycephaly
  • The Norwich Terrier is not brachycephalic, so the effect of this mutation is not linked to brachycephaly.
  • Most French Bulldogs do NOT have the mutation.
  • The mutation is absent in Pugs.
  • Therefore, this gene is NOT the main cause of breathing problems in Bulldogs, Frenchies, and Pugs..
From these points, it is obvious that the press release issued by the Roslin Institute, where the study was done, is incorrect. This is what they said:

​"Dog DNA find could aid breathing problems
Scientists have discovered a DNA mutation linked to breathing problems in popular dog breeds.

Breathing difficulties are most often associated with flat-faced breeds, such as French bull dogs and pugs, but scientists have found the mutation is also carried by Norwich terriers, which have proportional noses.
​

The finding could inform future genetic tests that could help vets identify animals at risk, and help breeders avoid producing affected pups."
Picture


Read the points above. This study did not find a mutation that causes breathing problems in brachycephalic breeds. Only a few Frenchies had the mutation, and it is completely absent in Pugs. The mutation was found in Norwich Terriers, where it has NOTHING to do with brachycephaly because the Norwich Terrier is not brachycephalic.


This article is also wildly incorrect. The gene was not found in Pugs. So no, this is not the gene that makes Pugs wheeze. The gene does occur in Bulldogs, but this study did not examine whether it is a cause of breathing problems in this breed, for which there is much evidence that the brachycephalic head shape is a major risk factor for breathing issues. This piece doesn't even mention the Norwich Terrier. In fact, this headline should have said something like "Mutation that causes breathing problems in Norwich Terriers is not the cause of problems in brachycephalic breeds."
​
Picture
I repeat AGAIN:

​No, we have NOT found the mutation that causes breathing problems in brachycephalic dogs.
This is NOT a breakthrough for health issues in brachycephalic dogs. In fact, it essentially rules out this particular gene being a significant cause of the problem because it is absent in Pugs and relatively rare in Frenchies, both brachycephalic breeds, and it is linked to the breathing problems in the Norwich Terrier, which is NOT a brachycephalic breed. 
Only a day after publication, the social media groups for owners and breeders of brachycephalic breeds are all a'twitter with news of this terrific research development which (they claim) vindicates flat faces as the cause of breathing problems in their breeds. This study does not do that.  

REFERENCES
Marchant et al. 2019. An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
PLoS Genetics 15: e1008102. 
https://doi.org/10.1371/journal.pgen.1008102


To learn more about the genetics of dogs, check out
ICB's online courses

***************************************

Visit our Facebook Groups

ICB Institute of Canine Biology
...the latest canine news and research

ICB Breeding for the Future
...the science of animal breeding

Comments are closed.

    Archives

    January 2025
    November 2022
    July 2022
    May 2022
    April 2022
    March 2022
    February 2022
    November 2021
    October 2021
    December 2020
    January 2020
    August 2019
    July 2019
    June 2019
    May 2019
    April 2019
    March 2019
    February 2019
    January 2019
    December 2018
    November 2018
    September 2018
    August 2018
    July 2018
    June 2018
    May 2018
    October 2017
    August 2017
    May 2017
    April 2017
    March 2017
    February 2017
    January 2017
    December 2016
    November 2016
    September 2016
    August 2016
    July 2016
    June 2016
    April 2016
    March 2016
    February 2016
    January 2016
    December 2015
    November 2015
    October 2015
    September 2015
    August 2015
    July 2015
    June 2015
    May 2015
    April 2015
    March 2015
    January 2015
    December 2014
    November 2014
    October 2014
    September 2014
    August 2014
    July 2014
    June 2014
    May 2014
    February 2014
    December 2013
    October 2013
    September 2013
    July 2013
    March 2013
    July 2012
    April 2012

    Categories

    All
    Behavior
    Border-collie
    Herding

Blog

News


About Us

Contact Us








Copyright © 2012-2017 Institute of Canine Biology
Picture
Picture