Noise Phobia and Hearing Acuity in Border Collies (and other purpose-bred dogs)

Project Goal:

We are currently investigating the genetics of behavior, both normal and abnormal, in Border Collies and other purpose-bred dogs.  The Border Collie's heritage of selection for practical working utility makes it especially interesting for scientific studies of genetics and behavior.  Our current projects featuring Border Collies include:

1. An investigation of noise phobia and other anxiety related behaviors in Border Collies.  Noise phobias typically manifest as fear or panic responses to sounds such as thunder, fireworks, or gunshots, and are common in Border Collies. In some cases, noise phobias are severe enough to affect a dog’s working utility or quality of life.
2. An investigation of hearing acuity and response to auditory cues in working Border Collies.  Most studies of hearing in dogs merely measure whether the subject can hear or not.  We are interested in what and how well they hear, and how they use these auditory cues to make decisions, in working contexts and in “civilian life.”
3. An investigaion of population structure and variation within the Border Collie breed, investigating questions such as whether or not there is a “split” between dogs bred primarily for working, and dogs bred primarily for show. 

Building upon this framework, we hope eventually to explore the relationship between genes and normal behaviors, including working behaviors in Border Collies and other purpose-bred dogs such as herding dogs, gundogs, and protection dogs.

NEWS: Project Status

We have been collecting questionnaires and DNA samples from the Border Collie community for several months, focusing in particular on a multigenerational pedigree (see example of a pedigree here) that segregates noise phobia, and continue to seek unrelated dogs, both affected (cases) and unaffected (controls).  Thus far, we have blood samples from over 200 Border Collies.  In addition to the dozens of owners, trainers, and handlers who responded to requests for samples online, we traveled to the Soldier Hollow Classic Invitational Sheepdog Trial, the USBCHA Sheepdog Finals, and several other events in late 2007 and early 2008 to collect samples.  We thank everyone who has participated so far, and hope that we can continue to maintain interest in the project, continue collecting samples, to make our database of Border Collie variation as comprehensive as possible and to learn as much as we can about behaviors of interest in this breed.

Left: competitors at the Soldier Hollow Classic Invitational SDT, 2007; right: a project participant doing his part for science, USBCHA Finals, 2007.  Photos copyright M.L. Chang.

Surveying genetic markers and identifying candidate genes:

As of summer 2008, we have completed genotyping of almost 80 Border Collies, as well as 45 Australian Shepherds, and 17 German Shepherd Dogs, two other herding breeds chosen for comparison to our Border Collie sample.  This means that we have analyzed approximately 130,000 genetic markers (single nucleotide polymorphisms, or SNPs) for each dog.  We have taken this genetic information and correlated it with behavioral information submitted by owners, trainers, and handlers who answered questionnaires asking about their dogs' reactions to noise and other stimuli. 

Through a series of analyses, we have identified potental candidate genes responsible for governing noise phobia and hearing acuity in working Border Collies and possibly all dogs.  We are now conducting further studies to test and hopefully confirm these findings, about which we are very excited, and for which we will continue to collect samples from Border Collies and also other herding dogs. 

Ours is the first study to look for and potentially identify genes related to complex behaviors in dogs.

Understanding population structure (intra-breed "stratification") within Border Collies:

Unrooted phylogenetic network constructed by Bayesian analysis, based on 4200 SNPs spread evenly across the canine genome.  Blue = German Shepherd Dogs, purple = Portuguese Water Dogs, green = Australian Shepherds, pink = show Border Collies, red = working Border Collies.

To conduct proper studies of association between genes and behavior, we must first check for "stratification" (population substructure) within our breed samples.  This is a question of immediate concern in breeds that are "split," or contain subpopulations that are bred for very different purposes.  If we do not account for such structure before conducting association analyses, it is possible to obtain spurious associations between genotypes and behavior that reflect breed splits (such as show vs. working) rather than actual functional significance.

We included a small number of kennel club registered show Border Collies (primarily of Australasian breeding) in our Border Collie sample for genotyping, the remainder of which was made up of ISDS and ABCA (working registries) registered dogs.  Our phylogenetic, clustering, and principal components analyses all suggest a genetic split within the breed between working and show Border Collies that is probably as large as the genetic distances between some breeds.  We hope to collect samples from more geographical regions, and from different populations of Border Collies (working, show, and sport), to further explore these findings.

Presentation of results:

Left: Doctoral candidate Jennifer Yokoyama presents results of genotyping analyses.  Right: Dr. Steven Hamilton presents results of phylogenetic analyses.

In May 2008, we traveled to the International Canine and Feline Genomics Conference in St. Malo, France to present our findings in two podium presentations.  We were very excited about the opportunity to present this work, which we are in the process of expanding and preparing for publication.

Expansion of the study:

Sampling at the PWDCA National Specialty, 2007.  Photo by J. Yokoyama.

We are currently in the process of expanding our project to encompass more breeds.  In order to further characterize our findings so far, we need to include dogs of other closely and not-so-closely related breeds, as well as increase our sample of Border Collies.  Our current sample thus includes Australian Shepherds, German Shepherd Dogs, and Portuguese Water Dogs.  We have traveled to events such as the 2007 ASCA and USASA National Specialties, the PWDCA 2007 National Specialty, and a meeting of working dog groups in the Netherlands.  Owners of these breeds are encouraged to contact us for further information about the study and for details on participation. 

How you can help:

We are still looking for participants.  Whether your dogs suffer from behavioral problems or not, you are encouraged to participate.

Please spread the word!  The response from the canine community has been tremendous, but we still need more dogs.  You can help by sending us DNA samples and behavioral data.  Samples are sought from:

1. Behaviorally Affected Dogs: Dogs that suffer or appear to suffer from noise phobias or other problem behaviors such as panic, fear, anxiety, and aggression.
2. Behaviorally Normal Dogs: Individual dogs do not have to display any specific suites of behaviors or behavioral problems prior to participation.  Behaviorally normal dogs are required for a comparative sample, and also to assess overall genetic diversity in Border Collies.  Assessments of within-breed diversity are a necessary prerequisite for association studies looking for genetic causes of specific behaviors, or of disease.
3. Family Members of Behaviorally Affected Dogs: Members of a known accessible family (including siblings, parents, grandparents, etc.) related to a behaviorally affected dog.  Relatives may be either behaviorally affected or behaviorally normal.

COPIES OF PEDIGREES ARE REQUESTED.  ALL DATA SUBMITTED REMAIN STRICTLY CONFIDENTIAL.

DNA collection kits are mailed and returned free of charge. Each kit includes supplies for DNA collection either by blood sample (strongly preferred) or cheek swab (if blood sampling is not feasible), sample forms, and a behavioral questionnaire. 

To request a participation kit, click here.

If you have any questions about this project, contact Dr. Melanie Lee Chang: MelanieC@lppi.ucsf.edu, (415) 476-7898.