Linkage Mapping of Canine Rod Cone Dysplasia Type 2 (<i>rcd2</i>) to<i>CFA7</i>, the Canine Orthologue of Human 1q32

Kukekova, Anna V.; Nelson, Jacquelyn L.; Kuchtey, Rachel W.; Lowe, Jennifer K.; Johnson, Jennifer L.; Ostrander, Elaine A.; Aguirre, Gustavo D.; Acland, Gregory M.

doi:10.1167/iovs.05-0861

Cited by 10 publications

(8 citation statements)

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“…A genome wide scan was undertaken by the Mammalian Genotyping Service (Marshfield, WI) as previously described (Kukekova et al , 2006). A total of 150 DNA samples were analyzed, comprising 80 Labrador retriever-derived (Figure 1A) and 70 samoyed-derived colony dogs (Figure 1B).…”

Section: Methodsmentioning

confidence: 99%

“…The linkage analysis was done on the two breeds separately. All genotypes that passed Marshfield quality control were analyzed using MultiMap (Matise et al , 1994) as previously described (Mellersh et al , 1997; Acland et al, 1998, 1999., Kukekova et al , 2006). Briefly, genotypes were checked for Mendelian segregation using the prepare option of MultiMap.…”

Section: Methodsmentioning

confidence: 99%

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COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

et al. 2010

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Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively. Affected dogs exhibit short-limbed dwarfism together with severe ocular defects, and this phenotype is inherited as an autosomal recessive trait in both breeds. The clinical and pathological appearance resembles human hereditary arthro-ophthalmopathies such as Stickler syndrome, or Marshall Syndrome, although these human disorders are usually dominant. Linkage studies in drd1-informative pedigrees mapped the locus to canine chromosome 24, and led to the identification of an insertional mutation in exon 1 of the gene COL9A3 that cosegregates with the disease. The drd2 locus was similarly mapped to canine chromosome 15 and shown to cosegregate with a 1,267 bp deletion mutation in the 5′ end of COL9A2. Both mutations affect the COL3 domain of the respective gene. Northern analysis showed reduced RNA expression in affected retina compared to normal. These models offer potential for studies such as protein-protein interactions between different members of the collagen gene family; regulation and expression of these genes in retina and cartilage, and even opportunities for gene therapy.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

et al. 2010

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“…Further blood samples for DNA analysis were obtained for population studies from privately owned dogs representing 19 other breeds. Samples used for meiotic linkage analysis represented 14 three-generation pedigrees (126 individuals in the informative generation) previously used for an rcd2 genome wide scan (Kukekova et al 2006), and a further 26 backcross and intercross pedigrees including 140 informative progeny. LD mapping was performed using samples from 7 rcd2 -affected and 3 rcd2 -carrier (obligate-heterozygous) collie dogs.…”

Section: Methodsmentioning

confidence: 99%

“…By 6 to 8 months of age rcd2 dogs become functionally blind. The rcd2 locus has been mapped previously to a ~4 Mb region on CFA7, an interval homologous to human 1q32 (Kukekova et al 2006). …”

Section: Introductionmentioning

confidence: 99%

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

et al. 2009

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Rod cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of population structure within this breed, and to fine map rcd2 to a 230 kb candidate region that included the gene C1orf36 responsible for human and murine rd3, and within which all affected dogs were homozygous for one haplotype. In one of three identified canine retinal RD3 splice variants, an insertion was found that cosegregates with rcd2, and is predicted to alter the last 61 codons of the normal open reading frame and further extend the ORF. Thus combined meiotic linkage and LD mapping within a single canine breed can yield critical reduction of the disease interval when appropriate advantage is taken of within breed population structure. This should permit a similar approach to tackle other hereditary traits that segregate in single closed populations.

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“…Mutations have also been found in PDC in the Miniature schnauzer [13], RPE65 in Briards with retinal dystrophy [14-16], PDE6A in Cardigan Welsh corgis with rod-cone dysplasia type 3 (rcd3) [17], RHO in English and Bull mastiffs with autosomal dominant PRA [18], and RPGR in Samoyeds and Siberian huskies with X-linked PRA [19]. In addition to this, 3 loci have been mapped: early retinal degeneration ( erd ) in the Norwegian elkhound [20] to CFA27, rod cone dysplasia type 2 ( rcd2 ) in the collie [21] to CFA7, and progressive rod-cone degeneration ( prcd ) in CFA9. This last one is the most widespread of these diseases since it occurs in the American and English cocker spaniels, Labrador retriever and Miniature poodle [22].…”

Section: Introductionmentioning

confidence: 99%

The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

Aguirre‐Hernández

Wickström²,

Sargan

2007

BMC Vet Res

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BackgroundDogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund is a dog breed presenting late-onset progressive retinal atrophy for which the disease locus remains unknown.ResultsIn this study we mapped the progressive retinal atrophy locus in the Finnish lapphund using a DNA pooling approach, assuming that all affected dogs within the breed share the same identical-by descent-mutation as the cause of the disease (genetic homogeneity). Autosomal recessive inheritance was also assumed, after ruling out, from pedigree analysis, dominant and X-linked inheritance. DNA from 12 Finnish lapphund cases was mixed in one pool, and DNA from 12 first-degree relatives of these cases was mixed to serve as the control pool. The 2 pools were tested with 133 microsatellite markers, 3 of which showed a shift towards homozygosity in the cases. Individual genotyping with these 3 markers confirmed homozygosity for the GALK1 microsatellite only (chromosome 9). Further individual genotyping with additional samples (4 cases and 59 controls) confirmed the association between this marker and the disease locus (p < 0.001). Closely related to this breed are the Swedish lapphund and the Lapponian herder for which a small number of retinal atrophy cases have been reported. Swedish lapphund cases, but not Lapponian herder cases, had the same GALK1 microsatellite genotype as Finnish lapphund cases.ConclusionThe locus for progressive rod-cone degeneration is known to be close to the GALK1 locus, on the telomeric region of chromosome 9, where the retinal atrophy locus of the Finnish lapphund has been mapped. This suggests that the disease in this breed, as well as in the Swedish lapphund, may correspond to progressive rod-cone degeneration. This would increase the number of known dog breeds having this particular form of progressive retinal atrophy.

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Linkage Mapping of Canine Rod Cone Dysplasia Type 2 (rcd2) toCFA7, the Canine Orthologue of Human 1q32

Abstract: The rcd2 locus represents a novel retinal degeneration gene. It is anticipated that when identified, this gene will offer new insights into retinal developmental and degenerative processes, and new opportunities for exploring experimental therapies.

Cited by 10 publications

References 41 publications

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

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