Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses

Autor:	K. T. Graves, J. E. Eberth, James N. MacLeod, E. Bailey
Rok vydání:	2018
Předmět:	musculoskeletal diseases 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Candidate gene endocrine system diseases 040301 veterinary sciences Offspring Dwarfism Biology Compound heterozygosity Polymorphism Single Nucleotide 0403 veterinary science 03 medical and health sciences Exon Genetics medicine Animals Aggrecans Horses Allele Heterozygote advantage 04 agricultural and veterinary sciences General Medicine Exons medicine.disease Phenotype 030104 developmental biology Animal Science and Zoology Horse Diseases
Zdroj:	Animal genetics. 49(5)
ISSN:	1365-2052
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9bda459ad23d98205fe5b7771fba6c5 https://pubmed.ncbi.nlm.nih.gov/30058072 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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