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Table 3 Investigation of known variants affecting coat colors and color phenotypes associated with disease traits

From: Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication

Phenotype

ECA

Position

Gene

Associated genotype

Genotype Duelmener

Genotype Arabian

Genotype Sorraia

Genotype Hanoverian 1

Genotype Hanoverian 2

References

Chestnut/black

3

36,259,552

MC1R

C/T substitution: Ser/Phe

C/C

T/T

C/C

T/T

C/T

[14]

Chestnut

3

36,259,554

MC1R

G/A substitution: Asp/Asn

G/G

G/G

G/G

G/G

G/G

[20]

Bay/black

22

25,168,579

ASIP

11 bp deletion: frameshift

ref/ref

ref/ins

ref/ref

ref/ref

ref/ins

[14]

Grey

25

6,575,277

STX17

4.6 kb duplication

Not detected

Not detected

Not detected

Not detected

Not detected

[21]

Cream

21

30,666,626

SLC45A2

11 bp deletion: frameshift

Not detected

Not detected

Not detected

Not detected

Not detected

[22]

Champagne

14

26,701,092

SLC36A1

C/G substitution: Thr/Arg

G/G

G/G

G/G

G/G

G/G

[23]

Splashed white

16

20,117,302

MITF

11bp deletion-insertion

Not detected

Not detected

Not detected

Not detected

Not detected

[24, 25]

Splashed white

16

20,105,348

MITF

DelGTGTC

Not detected

Not detected

Not detected

Not detected

Not detected

[24, 25]

Splashed white

6

11,429,753

PAX3

C/T substitution

C/C

C/C

C/C

C/C

C/C

[24, 25]

Lavender foal syndrome (LFS)

1

138,235,715

MYO5A

1 bp deletion: frameshift/stop

Not detected

Not detected

Not detected

Not detected

Not detected

[10]

Lethal white foal syndrome

17

50,624,771

EDNRB

AG deletion-insertion: Ile/Lys

Not detected

Not detected

Not detected

Not detected

Not detected

[26]

Silver coat color, congenital eye disease

6

73,665,304

PMEL17

C/T substitution: Arg/Cys

C/C

C/C

C/C

C/C

C/C

[27]

Macchiato, hearing loss

16

20,103,081

MITF

T/C substitution: Asn/Ser

T/T

T/T

T/T

T/T

T/T

[24]