Page 15 - Autumn 2024 Newsletter Online_Neat

long-read sequence data from
clinically affected Keeshonds
and have identified several DNA
variants that we will now
genotype in larger numbers of
Keeshonds (both clinically
affected and unaffected) to help
us identify the variant or
variants that are responsible for
PHPT.
Once we have completed these
experiments, we will produce a
manuscript summarising our
findings which will be submitted
for peer-review.
Dr Cathryn Mellersh has kindly
provided the following update The main objective of the above work
will be to develop a robust genetic
of the work being taken on
test that breeders can use to identify
behalf of the breed. dogs at risk of developing PHPT and
thus minimise the risk of breeding
She writes:
high risk dogs. We would ideally base
“Researchers from the Canine the test on the causal variant(s), but
Genetics Centre, with Barbara Skelly we might also be able to develop a
from the Queen’s Veterinary School robust test based on linked markers
Hospital (both at the University of if the causal variant cannot be
Cambridge) are collaborating with unequivocally identified.
Professors Claire Wade and Kerstin
Lindblad-Toh (University of Sydney We welcome DNA samples from
and Uppsala University respectively), Keeshonds that have developed PHPT
who were involved in the original or that are closely related to clinically
experiments that successfully affected dogs. To request DNA
mapped the PHPT mutation. It was sample collection kits please visit:
Sample Request Form – The Canine
this work that led to Richard
Goldstein’s development of the Genetics Centre
genetic test that Cornell ran until very (canine-genetics.org.uk)”
recently. But Claire and Kerstin were Cathryn will be contacting all the
not involved in the development collaborators to establish a timeline
or operation of that test, though are for getting all the work done. She is
both collaborative and highly hopeful the team can complete the
esteemed scientists who publish proposed experiments by the end of
regularly and whose priority is to get the year.
the PHPT data published in a peer-
reviewed journal. Let us all hope that this will finally
give the Keeshond community
Between us (Claire, Kerstin and the worldwide the confidence it needs.
CGC researchers) we have analysed
both whole genome sequence and
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