ArticleMammalian genome : official journal of the International Mammalian Genome Society2019
Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 29 citations in OpenAlex.
- A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2.Animal genetics · 2025Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.Calcified tissue international · 2024Review
- A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.Genetics, selection, evolution : GSE · 2024Article
- An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.BMC genomics · 2024Article
- Assessment of Reference Genes Stability in Cortical Bone of Obese and Diabetic Mice.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- Severe osteogenesis imperfecta caused byJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022Article
- A De Novo Mutation inAnimals : an open access journal from MDPI · 2021Article
- Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.The veterinary quarterly · 2020Article
- Article
- De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.Journal of veterinary internal medicineArticle
- Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.Journal of veterinary internal medicineArticle
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
A genetic disorder, osteogenesis imperfecta (OI) is broadly characterized by connective tissue abnormalities and bone fragility most commonly attributed to alterations in Type I collagen. Two Red Angus calves by the same sire presented with severe bone and dental fragility, blue sclera, and evidence of in utero fractures consistent with OI congenita. Comparative analyses with human cases suggested the OI in these calves most closely resembled that classified as OI Type II. Due to the phenotypic classification and shared paternity, a dominant, germ-line variant was hypothesized as causative although recessive genotypes were also considered due to a close relationship between the sire and dam of one calf. Whole-genome sequencing revealed the presence of a missense mutation in the alpha 1 chain of collagen Type I (COL1A1), for which both calves were heterozygous. The variant resulted in the substitution of a glycine residue with serine in the triple helical domain of the protein; in this region, glycine normally occupies every third position as is critical for correct formation of the Type I collagen molecule. Allele-specific amplification by droplet digital PCR further quantified the variant at a frequency of nearly 4.4% in the semen of the sire while it was absent in his blood, supporting the hypothesis of a de novo causative variant for which the germ line of the sire was mosaic. The identification of novel variants associated with unwanted phenotypes in livestock is critical as the high prolificacy of breeding stock has the potential to rapidly disseminate undesirable variation.
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