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Table 4 Investigation of known variants affecting 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

Severe combined immunodeficiency

9

35,528,429

DNAPK

5bp deletion: stop

Not detected

Not detected

Not detected

Not detected

Not detected

[28]

Cerebellar abiotrophy

2

13,074,277

TOE1

G/A substitution: Arg/His

G/G

G/A

G/G

G/G

G/G

[15]

Glycogen branching enzyme deficiency

26

8,217,062

GBE1

C/A substitution: Tyr/stop

C/C

C/C

C/C

C/C

C/C

[29]

Equine hyperkalemic periodic paralysis

11

15,500,439

SCN4A

C/G substitution: Phe/Leu

C/C

C/C

C/C

C/C

C/C

[30]

Polysaccharide storage myopathy (PSSM type 1)

10

18,940,324

GYS1

G/A substitution: Arg/His

G/G

G/G

G/G

G/G

G/G

[31]

Malignant hyperthermia

10

9,554,699

RYR1

C/G substitution: Arg/Gly

C/C

C/C

C/C

C/C

C/C

[32]

Hereditary equine regional dermal asthenia

1

128,056,748

PPIB

G/A substitution: Gly/Arg

G/G

G/G

G/G

G/G

G/G

[33, 34]

Junctional epidermolysis bullosa

8

45,603,643

LAMC2

C insertion: frameshift/stop

Not detected

Not detected

Not detected

Not detected

Not detected

[35, 36]

Foal immunodeficiency syndrome

26

30,660,224

SLC5A3

C/T substitution: Pro/Leu

C/C

C/C

C/C

C/C

C/C

[37]