OMIA:001718-9823 : Dwarfism, Schmid metaphyseal chondrodysplasia in Sus scrofa (pig)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2000
Species-specific description: In a single paper, Nielsen et al. (2000) reported a new form of dwarfism in pigs, and its causative mutation.
Inheritance: Nielsen et al. (2000) reported autosomal dominant inheritance.
Mapping: An initial genome scan with 70 microsatellite markers implicated chromosome SSC1. Mapping with additional SSC1 markers mapped the disorder to 8.3cM from marker Sw781. The authors noted that this region is homologous to human chromosome HSA6q21-22.3, which harbours the gene COL10A1, mutations in which cause Schmid metaphyseal chondrodysplasia, a disorder very similar to the pig disorder. Thus the authors had identified a comparative positional candidate gene.
Molecular basis: Following a comparative positional candidate gene approach (described above in the Mapping section), Nielsen et al. (2000) cloned and sequenced the porcine COL10A1 gene and identified a causative missense mutation, namely "a single G to A transition in exon 3 that results in a Gly-to-Arg substitution, G590R, in the carboxyl terminus of the protein".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: The disorder is characterised by "Metaphyseal chondrodysplasia in the long bones" (Nielsen et al., 2000).
Yorkshire (Pig) (VBO_0001212).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL10A1||collagen, type X, alpha 1||Sus scrofa||1||NC_010443.5 (81773818..81766829)||COL10A1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|172||Dwarfism, Schmid metaphyseal chondrodysplasia||COL10A1||missense||Naturally occurring variant||Sscrofa11.1||1||g.81767089C>T||c.1768G>A||p.(G590R)||2000||11130976||The genomic and CDS position was determined by Stephanie Shields and the effect was confirmed with Ensembl VEP (27/05/2020)|
Cite this entry
|2000||Nielsen, V.H., Bendixen, C., Arnbjerg, J., Sørensen, C.M., Jensen, H.E., Shukri, N.M., Thomsen, B. :|
|Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mamm Genome 11:1087-92, 2000. Pubmed reference: 11130976. DOI: 10.1007/s003350010212.|
- Created by Frank Nicholas on 17 Sep 2012