Sequence of Normal Canine COL1A1 cDNA and Identification of a Heterozygous α1(I) Collagen Gly208AIa Mutation in a Severe Case of Canine Osteogenesis Imperfecta

Campbell, Bonnie G.; Wootton, Joyce A.M.; MacLeod, James N.; Minor, Ronald R.

doi:10.1006/abbi.2000.2099

Cited by 31 publications

(27 citation statements)

References 31 publications

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“…With the exception of collagen, these genes have not yet been sequenced in the canine genome. Collagen type 1 ␣-1 and ␣-2 have homologous genes in the canine genome, with similar function [28,29]. MARCKS was of interest to our lab- oratory because the gene product is a prominent substrate for protein kinase C and has not yet been identified as an important gene in intimal hyperplasia.…”

Section: Discussionmentioning

confidence: 98%

Temporal gene expression following prosthetic arterial grafting1

Willis

Kalish

et al. 2004

Journal of Surgical Research

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Section: Discussionmentioning

confidence: 98%

Temporal gene expression following prosthetic arterial grafting1

Willis

Kalish

et al. 2004

Journal of Surgical Research

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“…OI in dogs is inherited by autosomal dominant and/or recessive modes with gene mutations discovered in COL1A1 (golden retrievers),7 COL1A2 (beagles)8 and SERPINH1 (dachshunds) 5. COL1A1 and COL1A2 code for the α1 and α2 collagen chains that are responsible for the production, folding, maintenance of structure and secretion of type 1 collagen 1.…”

Section: Discussionmentioning

confidence: 99%

Osteogenesis and dentinogenesis imperfecta in a four‐month‐old English mastiff

Gold

Pool

Edwards

2019

Vet Record Case Reports

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Osteogenesis imperfecta, also known as ‘brittle bone disease’, is an inherited connective tissue disorder caused by defects in type 1 collagen. The disease results in low bone mass and reduced bone strength, often manifesting as multiple intrauterine fractures, skeletal abnormalities and death before adulthood. A four-month-old, female entire, English mastiff was presented for multiple limb fractures. Due to a poor prognosis, euthanasia was elected. Gross examination revealed diffuse osteopenia with multiple chronic and acute skeletal fractures. All adult teeth were undersized and opalescent, and multiple deciduous incisors were retained. Histopathology of the long bones demonstrated severe, diffuse osteopenia with retention of non-ossified cartilage spicules in the secondary spongiosa. The incisor teeth had multifocal disorganisation of odontoblasts and ameloblasts that exhibited piling (dysplasia) and hypoplasia of the dentin. Diagnoses of osteogenesis imperfecta and dentinogenesis imperfecta were made. Osteogenesis imperfecta should be considered as a cause of diffuse osteopenia in young dogs.

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“…OI in dogs has been described in Golden Retrievers, Beagles, Collies, Poodles, Norwegian Elkhounds, and Bedlington Terriers [8]–[12]. In Golden Retrievers a COL1A1 mutation and in Beagles a COL1A2 mutation has been reported to cause OI [8],[9]. For other canine OI cases the underlying genetic defect has not been elucidated.…”

Section: Introductionmentioning

confidence: 99%

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

et al. 2009

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Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form of OI. Genotyping only five affected dogs on the 50 k canine SNP chip allowed us to localize the causative mutation to a 5.82 Mb interval on chromosome 21 by homozygosity mapping. Haplotype analysis of five additional carriers narrowed the interval further down to 4.74 Mb. The SERPINH1 gene is located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix. Therefore, we considered SERPINH1 a positional and functional candidate gene and performed mutation analysis in affected and control Dachshunds. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. We thus have identified a candidate causative mutation for OI in Dachshunds and identified a fifth OI gene.

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Sequence of Normal Canine COL1A1 cDNA and Identification of a Heterozygous α1(I) Collagen Gly208AIa Mutation in a Severe Case of Canine Osteogenesis Imperfecta

Cited by 31 publications

References 31 publications

Temporal gene expression following prosthetic arterial grafting1

Temporal gene expression following prosthetic arterial grafting1

Osteogenesis and dentinogenesis imperfecta in a four‐month‐old English mastiff

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

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