Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene.

Link copied!

Academic Journal

Ainsworth S; Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
Carter S; Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
Fisher C; Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Roslin, EH25 9RG, UK.
Dawson J; Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
Makrides L; Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
Nuttall T; Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Roslin, EH25 9RG, UK.
Mason SL; School of Veterinary Science, Small Animal Teaching Hospital, University of Liverpool, Leahurst Campus, Chester High Road, Neston, CH64 3TF, UK.

Animal genetics [Anim Genet] 2015 Dec; Vol. 46 (6), pp. 707-10. Date of Electronic Publication: 2015 Sep 11.

English

Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs. In human, the condition is genetic in nature with numerous mutations and polymorphisms in PLG identified in affected individuals and related family members. The condition is uncommonly reported in dogs and, to date, no genetic studies have been performed. We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). Plasma plasminogen activity was below normal in one affected dog but within normal reference intervals for the other. Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A). The related, unaffected dogs displayed heterozygous alleles at this position (c.1256+2T/A), whereas no mutation was detected in unaffected, non-related control dogs. This is the first report to identify gene polymorphisms associated with LM in dogs.
(© The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)