Nonsense Mutation in DMP1 Causes Rickets in Corriedale Sheep
Author Information
Author(s): Zhao Xia, Dittmer Keren E., Blair Hugh T., Thompson Keith G., Rothschild Max F., Garrick Dorian J.
Primary Institution: Iowa State University
Hypothesis
Could inherited rickets in Corriedale sheep be linked to a mutation in the DMP1 gene?
Conclusion
The R145X mutation in the DMP1 gene is responsible for inherited rickets in Corriedale sheep.
Supporting Evidence
- The study identified a homozygous region of 125 SNP loci in all affected sheep.
- The mutation introduced a stop codon that could truncate the DMP1 protein.
- All affected sheep had the 'T T' genotype for the identified mutation.
Takeaway
Some sheep have a problem that makes their bones weak and deformed because of a tiny change in their genes.
Methodology
A genome-wide association study was conducted using the Illumina OvineSNP50 BeadChip on 20 related sheep, including 17 affected and 3 carriers.
Limitations
The incidence of the mutation in the Corriedale sheep population is unknown.
Participant Demographics
17 affected Corriedale sheep (9 males, 8 females) and 3 carriers.
Digital Object Identifier (DOI)
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