Karlskov-Mortensen P, Proschowsky H F, Gao F, Fredholm M
Animal Genetics, Bioinformatics & Breeding, Department of Veterinary & Animal Sciences, Faculty of Health & Medical Sciences, University of Copenhagen, Grønnegårdsvej 3, DK-1870, Frederiksberg C, Denmark.
The Danish Kennel Club, Parkvej 1, Solrød Strand, Denmark.
Anim Genet. 2018 Jun;49(3):237-241. doi: 10.1111/age.12659. Epub 2018 Apr 6.
Progressive retinal atrophy (PRA) is a common cause of blindness in many dog breeds. It is most often inherited as a simple Mendelian trait, but great genetic heterogeneity has been demonstrated both within and between breeds. In many breeds the genetic cause of the disease is not known, and until now, the Old Danish Pointing Dog (ODP) has been one of those breeds. ODP is one of the oldest dog breeds in Europe. Seventy years ago the breed almost vanished, but today a population still exists, primarily in Denmark but with some dogs in Germany and Sweden. PRA has been diagnosed in ODP since the late 1990s. It resembles late onset PRA in other dog breeds, and it is inherited as an autosomal recessive trait. In the present study, we performed whole-genome sequencing and identified a single base insertion (c.3149_3150insC) in exon 1 of C17H2orf71. This is the same mutation previously found to cause PRA in Gordon Setters and Irish Setters, and it was later found in Tibetan Terrier, Standard Poodle and the Polski Owczarek Nizinny. The presence of the mutation in such a diverse range of breeds indicates an origin preceding creation of modern dog breeds. Hence, we screened 262 dogs from 44 different breeds plus four crossbred dogs, and can subsequently add Miniature Poodle and another polish sheepdog, the Polski Owczarek Podhalanski, to the list of affected breeds.
进行性视网膜萎缩（PRA）是许多犬种失明的常见原因。它通常作为一种简单的孟德尔性状遗传，但在品种内部和品种之间都表现出很大的遗传异质性。在许多品种中，该疾病的遗传原因尚不清楚，直到现在，古老丹麦指示犬（ODP）一直是其中之一。ODP是欧洲最古老的犬种之一。七十年前，这个品种几乎灭绝，但如今仍有一个种群存在，主要在丹麦，德国和瑞典也有一些。自20世纪90年代末以来，ODP中已诊断出PRA。它类似于其他犬种的迟发性PRA，并且作为常染色体隐性性状遗传。在本研究中，我们进行了全基因组测序，并在C17H2orf71的外显子1中鉴定出一个单碱基插入（c.3149_3150insC）。这与先前在戈登雪达犬和爱尔兰雪达犬中发现的导致PRA的突变相同，后来在西藏梗犬、标准贵宾犬和波兰低地牧羊犬中也发现了该突变。在如此多样的品种中存在这种突变表明其起源早于现代犬种的形成。因此，我们对来自44个不同品种的262只犬以及4只杂交犬进行了筛查，随后可以将迷你贵宾犬和另一种波兰牧羊犬波兰高地牧羊犬添加到受影响品种名单中。
