Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses

J. E. Eberth, K. T. Graves, J. N. MacLeod, E. Bailey

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Chondrodysplastic dwarfism in Miniature horses appeared to be a recessive genetic trait based on the occurrence of affected offspring by normal parents. Dwarf phenotypes vary and range from abnormal abortuses to viable offspring with evidence of skeletal dysplasia. A genome-wide association study implicated a region of ECA1 with dwarfism in Miniature horses. Aggrecan (ACAN) was a candidate gene in that region, and exons were sequenced to compare DNA sequences for dwarf and non-dwarf horses. Sequencing led to the discovery of variants in exons 2, 6, 7 and 15 associated with dwarfism. The four variants are identified with reference to Ecab 3.0 (GCF_002863925.1) as g.95291270del (rs1095048841), g.95284530C>T (ERP107353), g.95282140C>G (rs1095048823) and g.95257480_95257500del (rs1095048839) and designated here as D1, D2, D3* and D4 respectively. A previous study at another laboratory reported dwarfism associated with homozygosity for D3*. Homozygotes for those variants and compound heterozygotes for any combination of those variants always expressed a dwarfism phenotype. However, eight additional horses with dwarfism were found, seven of which were heterozygotes for D2, D3* or D4, suggesting the existence of additional ACAN alleles causing dwarfism. Among Miniature horses, the combined frequency of D1, D2, D3* and D4 was 0.163, suggesting a carrier rate of 26.2% for alleles causing chondrodysplastic dwarfism.

Original languageEnglish
Pages (from-to)413-420
Number of pages8
JournalAnimal Genetics
Issue number5
StatePublished - Oct 2018

Bibliographical note

Publisher Copyright:
© 2018 Stichting International Foundation for Animal Genetics


  • equine
  • exonic variation
  • recessive disease
  • teratology

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics


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