Progressive Retinal Atrophy in the Border Collie: A new XLPRA

BMC Veterinary Research

Table 1 Genes involved in canine retinopathies and in the Collie Eye anomaly, specifying the affected breeds and mutations.

Gene	Chromosome	Disease	Affected breeds	Mutation	References
PDE6B Phosphodiesterase β subunit	CFA3	Rod cone dysplasia Type 1 (rcd1 et rcd1a)	Irish Setter (rcd1)	Nonsense W807X	[37]
			Sloughi (rcd1a)	8 nucleotide insertion	[38]
PDE6A Phosphodiesterase α subunit	CFA4	Rod cone dysplasia Type 3 (rcd3)	Cardigan Welsh Corgi	Del A1939	[39]
RHO Rhodopsin	CFA20	Dominant PRA	English Mastiff Bullmastiff	T4R T4R	[40] [41]
PDC Phosducin	CFA7	Photoreceptors dysplasia (pd) Type A-PRA	Miniature Schnauzer	R82G	[42]
RPGR Retinitis Pigmentosa GTPase Regulator	CFA X	X-Linked Progressive Retinal Atrophy 1 (XLPRA1)	Samoyed Siberian Husky	Del GAGAA	[9]
		X-Linked Progressive Retinal Atrophy 2 (XLPRA2)	Mongrel	Del GA	[9]
CNGB3 Cyclic Nucleotide Gated channel β3	CFA29	Achromatopsia-3	Alaskan Malamute	Deletion removing all exons (Del 140 kb)	[43]
			German Shorthaired Pointer	D262N	[43]
RPE65 Retinal Pigment Epithelium-specific protein 65 kDa	CFA6	CSNB Congenital stationary night blindness	Briard	DelAAGA	[44]
NHEJ1 NonHomologous End-Joining factor1	CFA37	CEA Collie Eye Anomaly	8 breeds (1)	7.8 kb deletion	[31]
PRCD Progressive Rod Cone Degeneration	CFA9	PRCD Progressive Rod-Cone Degeneration	22 breeds (2)	C2Y	[7]
RPGRIP1 RPGR Interacting Protein 1	CFA15	CORD1 Cone Rod Dystrophy 1	Miniature Longhaired Dachshund	44 nucleotide insertion	[45]
BEST1 Bestrophin 1	CFA18	CMR Canine Multi-focal Retinopathy	5 breeds (3)	R25X G161D	[46]

(1) Australian Shepherd, Border Collie, Lancashire Heeler, Nova Scotia DTR, Rough Collie, Shetland Sheepdog, Smooth Collie, Whippet: longhaired.
(2) American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Chesapeake Bay Retriever, Chinese Crested, Cockapoos, English Cocker Spaniel, Entelbucher Mountain Dog, Finnish Lapphund, Golden Retriever, Kuvasz, Labradoodle, Labrador Retriever, Lapponian Herder, Nova Scotia Duck Tolling Retriever, Poodle Miniature and Toy, Portuguese Water Dog, Spanish Water Dog, Swedish Lapphund.
(3) English Mastiff, Bullmastiff, Dogue de Bordeaux, Great Pyrenees, Coton de Tulear

ISSN: 1746-6148