Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses

BMC Genomics

Table 1 Samples used in the TaqMan Copy Number Assay for the Grey locus

ID	Grey	Type²	Breed	Comments
Calibrator	g/g	C_DNA	Arabian	Calibrator in analysis
Ref	G/g	C_DNA	Thoroughbred	Genotype reference
Ref	G/G	C_DNA	Lipizzaner	Genotype reference
SP1	G/g ¹	C_DNA	Connemara	Late greying phenotype
SP2	G/g ¹	C_DNA	Connemara	Late greying phenotype
SP3	G/g ¹	C_DNA	Connemara	Late greying phenotype
Ho-Mel-L1	G/g	Equine melanoma cell line	Lipizzaner	Normal growth
Ho-Mel-A1	G/g	Equine melanoma cell line	Arabian	Fast growth
M1	G/g	Equine melanoma cell line	Irish warmblood	Normal growth
M14	G/G	Equine melanoma cell line	Andalusian	Fast growth
ID1	G/g	tumour DNA	Thoroughbred	Euthanized due to melanoma tumours
ID2	G/G	C_DNA + tumour DNA	Shagya Arabian	Euthanized due to melanoma tumours
ID3	G/g	C_DNA + tumour DNA	Swedish warmblood	Euthanized due to melanoma tumours
ID4	G/g	C_DNA + tumour DNA	Connemara	Cremello coloured³, euthanized due to laminitis, very small melanomas

¹ Not genotyped with Grey long-range PCR assay due to fragmented DNA; inferred genotype from copy number assay.
² C_DNA = constitutional genomic DNA from blood or hair samples.
³ Cremello horses are homozygous for a missense mutation D153N in SLC45A2 (MATP) and show a severe dilution of pigmentation in hair, skin and eye [25].

ISSN: 1471-2164