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Table 1 Allele and genotype frequencies of the identified MC1R SNPs in the six investigated goat breeds.

From: Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences

SNP

Breed (no. of animals)1,2,3,4

Mutated allele frequency5

Genotype frequency (no. of animals)

p.A61 (c.183C>T)

Girgentana (102)

<0.01

CC = 0.99 (101)

CT = 0.01 (1)

TT = 0.00 (0)

 

Maltese (50)

0.94

CC = 0.00 (0)

CT = 0.12 (6)

TT = 0.88 (44)

 

Derivata di Siria (39)

0.51

CC = 0.23 (9)

CT = 0.51 (20)

TT = 0.26 (10)

 

Murciano-Granadina (28)

1.00

CC = 0.00 (0)

CT = 0.00 (0)

TT = 1.00 (28)

 

Camosciata delle Alpi (29)

0.03

CC = 0.93 (27)

CT = 0.07 (2)

TT = 0.00 (0)

 

Saanen (18)

0.06

CC = 0.89 (16)

CT = 0.11 (2)

TT = 0.00 (0)

p.A81V (c.242C>T)

Girgentana (102)

<0.01

CC = 0.99 (101)

CT = 0.01 (1)

TT = 0.00 (0)

 

Maltese (50)

0.11

CC = 0.78 (39)

CT = 0.22 (11)

TT = 0.00 (0)

 

Derivata di Siria (39)

0.50

CC = 0.23 (9)

CT = 0.54 (21)

TT = 0.23 (9)

 

Murciano-Granadina (28)

0.00

CC = 1.00 (28)

CT = 0.00 (0)

TT = 0.00 (0)

 

Camosciata delle Alpi (29)

0.00

CC = 1.00 (29)

CT = 0.00 (0)

TT = 0.00 (0)

 

Saanen (18)

0.00

CC = 1.00 (18)

CT = 0.00 (0)

TT = 0.00 (0)

p.Q225X (c.673C>T)

Girgentana (102)

0.94

CC = 0.01 (1)

CT = 0.11 (11)

TT = 0.88 (90)

 

Maltese (50)

0.01

CC = 0.98 (49)

CT = 0.02 (1)

TT = 0.00 (0)

 

Derivata di Siria (39)

0.33

CC = 0.49 (19)

CT = 0.36 (14)

TT = 0.15 (6)

 

Murciano-Granadina (28)

0.00

CC = 1.00 (28)

CT = 0.00 (0)

TT = 0.00 (0)

 

Camosciata delle Alpi (29)

0.00

CC = 1.00 (29)

CT = 0.00 (0)

TT = 0.00 (0)

 

Saanen (18)

0.00

CC = 1.00 (18)

CT = 0.00 (0)

TT = 0.00 (0)

p.F250V (c.748T>G)

Girgentana (102)

<0.01

TT = 0.99 (101)

TG = 0.01 (1)

GG = 0.00 (0)

 

Maltese (50)

0.97

TT = 0.00 (0)

TG = 0.06 (3)

GG = 0.94 (47)

 

Derivata di Siria (39)

0.51

TT = 0.23 (9)

TG = 0.51 (20)

GG = 0.26 (10)

 

Murciano-Granadina (28)

1.00

TT = 0.00 (0)

TG = 0.00 (0)

GG = 1.00 (28)

 

Camosciata delle Alpi (29)

0.03

TT = 0.93 (27)

TG = 0.07 (2)

GG = 0.00 (0)

 

Saanen (18)

0.06

TT = 0.89 (16)

TG = 0.11 (2)

GG = 0.00 (0)

p.C267W (c.801C>G)

Girgentana (102)

0.00

CC = 1.00 (102)

CG = 0.00 (0)

GG = 0.00 (0)

 

Maltese (50)

0.76

CC = 0.08 (4)

CG = 0.32 (16)

GG = 0.60 (30)

 

Derivata di Siria (39)

0.01

CC = 0.97 (38)

CG = 0.03 (1)

GG = 0.00 (0)

 

Murciano-Granadina Caoba (15)

0.00

CC = 1.00 (15)

CG = 0.00 (0)

GG = 0.00 (0)

 

Murciano-Granadina Black (13)

0.58

CC = 0.00 (0)

CG = 0.85 (11)

GG = 0.15 (2)

 

Camosciata delle Alpi (29)

0.00

CC = 1.00 (29)

CG = 0.00 (0)

GG = 0.00 (0)

 

Saanen (18)

0.03

CC = 0.94 (17)

CG = 0.06 (1)

GG = 0.00 (0)

  1. 1Coat colour of these breeds is: Girgentana, white/cream with small red spots in the face (93 animals in our sample), or with small black spots instead of red (1 in our sample), or completely white (8 in our sample); Maltese, white with black checks and ears; Derivata di Siria, solid red; Murciano-Granadina, solid black or solid brown (caoba); Camosciata delle Alpi, brown with black stripes; Saanen, white (see Figure 1).
  2. 2At the c.673C>T site, for the Girgentana breed, considering only the animals with coat colour records (n. = 102) and within this group the three phenotypic types (presence of red spots in the face; presence of black spots in the face; completely white/cream animals), the number of goats for each genotype was: Girgentana with red spots (n. = 93), c.673CT = 3, c.673TT = 90; Girgentana with black spots (n. = 1), c.673CT = 1; Girgentana completely white/cream (n. = 8), c.673CC = 1, c.673CT = 6, c.673TT = 1.
  3. 3For the Girgentana breed, including the 51 goats for which coat colour records were not available (a total of 153 goats), the number of animals for each genotype at the five polymorphic sites was: c.183CC = 150, c.183CT = 3; c.242CC = 150, c.242CT = 3; c.673CC = 1, c.673CT = 14, c.673TT = 138; c.748TT = 150, c.748TG = 3; c.801CC = 153.
  4. 4Allele and genotype frequencies for the p.C267W in the Murciano-Granadina breed were separated for black and caoba animals.
  5. 5The mutated alleles were considered to be c.183T, c.242T, c.673T, c.748G, and c.801G.