MC1R Gene Variants and Their Relationship with Coat Color in South American Camelids

Table 3

Polymorphisms identified in the MC1R gene.

SNP observed	Allele	Alpacas phenotype				value
		White	Brown	Light fawn	Black
c.82A > G	AA	10	18	0	43	< 0.00000001
	AG	12	22	2	34
	GG	92	5	7	5
c.126T > C	TT	10	20	2	43	< 0.00000001
	TC	12	23	0	35
	CC	106	5	7	5
c.376G > A	GG	6	14	0	34	< 0.00000001
	GA	9	30	3	49
	AA	129	11	11	5
c.901C > T	CC	11	26	2	58	< 0.00000001
	CT	54	19	6	26
	TT	82	5	5	2
c.933G > A	GG	10	17	2	44	< 0.00000001
	GA	39	25	6	35
	AA	92	5	5	4
5′c. −42C > G	CC	10	19	0	43	< 0.00000001
	CG	13	23	2	34
	GG	101	5	7	5
3′UTR +5T > C	TT	10	17	2	43	< 0.00000001
	TC	39	24	6	36
	CC	86	5	4	4
3′UTR +170G > C	GG	9	19	2	44	< 0.00000001
	GC	39	25	6	40
	CC	8	5	4	3

Polymorphisms were significant for white, black, and brown coat colors in alpacas. Some of them are found at the level of the 5′ and 3′ UTRs, indicating that these regions are also important for gene characterization studies and their role with coat color.