title: Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene.
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.
authors.affiliation: Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
authors.forename: Stuart
authors.initials: S
authors.lastname: Ainsworth
authors.affiliation: Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
authors.forename: Stuart
authors.initials: S
authors.lastname: Carter
authors.affiliation: Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Roslin, EH25 9RG, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Fisher
authors.affiliation: Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
authors.forename: Jenna
authors.initials: J
authors.lastname: Dawson
authors.affiliation: Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
authors.forename: Loria
authors.initials: L
authors.lastname: Makrides
authors.affiliation: Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Roslin, EH25 9RG, UK.
authors.forename: Tim
authors.initials: T
authors.lastname: Nuttall
authors.affiliation: School of Veterinary Science, Small Animal Teaching Hospital, University of Liverpool, Leahurst Campus, Chester High Road, Neston, CH64 3TF, UK.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Mason
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics*; D005260:Female; D005838:Genotype; D007249:Inflammation / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009092:Mucous Membrane / Q000473:pathology; D010958:Plasminogen / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D010958:Plasminogen
keywords: chronic inflammation; fibrinous lesions; hypoplasminogenemia; intron donor site; mucous membranes