Ligneous membranitis in Scottish terriers is associated with a single nucleotide polymorphism in the plasminogen (plg) gene

Stuart Ainsworth, S.D. Carter, Claire Fisher, Jenna Dawson, Tim Nuttall, Sarah L Mason, Loria Makrides

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)707-710
JournalAnimal Genetics
Volume46
Issue number6
Early online date11 Sep 2015
DOIs
Publication statusPublished - 11 Sep 2015

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