ArticlePloS one2011
A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 59 citations in OpenAlex.
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- A comparative study on growth, feed intake, and serum vitamin and mineral concentrations in Western white-faced rams with and without limb deformities.Translational animal science · 2025Article
- GRP78 promotes the osteogenic and angiogenic response in periodontal ligament stem cells.European cells & materials · 2023Article
- Genome wide association study for the identification of genes associated with tail fat deposition in Chinese sheep breeds.Biology open · 2021Article
- Article
- Vitamin D Metabolism and Profiling in Veterinary Species.Metabolites · 2020Review
- An Overview of Rickets in Children.Kidney international reports · 2020Review
- Genomic mapping identifies two genetic variants in the MC1R gene for coat colour variation in Chinese Tan sheep.PloS one · 2020Article
- Genome-wide association studies of lactation yields of milk, fat, protein and somatic cell score in New Zealand dairy goats.Journal of animal science and biotechnology · 2020Article
- REHUNT: a reliable and open source package for restriction enzyme hunting.BMC bioinformatics · 2018Article
- Detection of QTL for greasy fleece weight in sheep using a 50 K single nucleotide polymorphism chip.Tropical animal health and production · 2017Article
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Scientific reports · 2017Article
- Unveiling genomic regions that underlie differences between Afec-Assaf sheep and its parental Awassi breed.Genetics, selection, evolution : GSE · 2017Article
- Genome-Wide Association Identifies SLC2A9 and NLN Gene Regions as Associated with Entropion in Domestic Sheep.PloS one · 2015Article
- Genomewide association study to detect QTL for twinning rate in Baluchi sheep.Journal of genetics · 2014Article
- Signatures of selection in sheep bred for resistance or susceptibility to gastrointestinal nematodes.BMC genomics · 2014Article
- Genomic variation and population structure detected by single nucleotide polymorphism arrays in Corriedale, Merino and Creole sheep.Genetics and molecular biology · 2014Article
- Genome-wide association study for wool production traits in a Chinese Merino sheep population.PloS one · 2014Article
- Occurrence of congenital disorders in Swiss sheep.Acta veterinaria Scandinavica · 2013Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. Previous outcross and backcross studies implicate inheritance as a simple autosomal recessive disorder. A genome wide association study was conducted using the Illumina OvineSNP50 BeadChip on 20 related sheep comprising 17 affected and 3 carriers. A homozygous region of 125 consecutive single-nucleotide polymorphism (SNP) loci was identified in all affected sheep, covering a region of 6 Mb on ovine chromosome 6. Among 35 candidate genes in this region, the dentin matrix protein 1 gene (DMP1) was sequenced to reveal a nonsense mutation 250C/T on exon 6. This mutation introduced a stop codon (R145X) and could truncate C-terminal amino acids. Genotyping by PCR-RFLP for this mutation showed all 17 affected sheep were "T T" genotypes; the 3 carriers were "C T"; 24 phenotypically normal related sheep were either "C T" or "C C"; and 46 unrelated normal control sheep from other breeds were all "C C". The other SNPs in DMP1 were not concordant with the disease and can all be ruled out as candidates. Previous research has shown that mutations in the DMP1 gene are responsible for autosomal recessive hypophosphatemic rickets in humans. Dmp1_knockout mice exhibit rickets phenotypes. We believe the R145X mutation to be responsible for the inherited rickets found in Corriedale sheep. A simple diagnostic test can be designed to identify carriers with the defective "T" allele. Affected sheep could be used as animal models for this form of human rickets, and for further investigation of the role of DMP1 in phosphate homeostasis.
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