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Table 6 Potential causal genes underlying selective sweep regions and their associated function or phenotype

From: Detection of selective sweeps in cattle using genome-wide SNP data

SNP50 discovery breed(s)

AFFXB1P discovery breed(s)

BTA

Sweep position (Mb)

Potential causative gene(s)

Gene or region type*

Associated function or phenotype

SNP50 Specific Sweep Regions

Hereford

---

6

70.65-70.87

spotted 1

---1

white points on face, underline, feet & tail in cattle [8]

Angus, Salers, Shorthorn, Simmental

---

12

25.87-26.23

NBEA

PC

autism spectrum disorder in human [35, 36]

MAB21L1

PC

psychiatric disorders in human [37]

Angus, Hanwoo, Hereford, Holstein, Limousin, Simmental

---

24

0.06-0.32

LOC10013911

PS

olfactory receptor-like variants

LOC783097

PS

olfactory receptor-like variants

LOC100337172

PS

olfactory receptor-like variants

Co-Discovered Regions (SNP50 and AFFXB1P)

Angus

Angus

1

1.67-2.02

POLL 2

---2

presence or absence of horns in cattle [5, 6, 38]

Holstein

Wagyu

13

15.49-15.74

DGKZ

PC

leptin signaling – linked to human obesity [39]

Angus, Hereford, Jersey, Holstein, Limousin, Simmental

Angus, Simmental

16

45.39-45.65

RERE

PC

embryogenesis and embryonic survival [4042]

Hanwoo

Simmental, Wagyu

16

52.63-52.86

AGRN

PC

cell adhesion between embryo & maternal tissues [43]

HES4

PC

oscillation and repression of embryogenesis [44]

ISG15

PC

acknowledgement & maintenance of pregnancy [45, 46]

Hanwoo

Angus, Simmental

18

14.72-14.97

MC1R

PC

black coat colour in cattle [7]

AFFXB1P Specific Sweep Regions

---

Simmental

1

83.46-83.68

HTR3E

PC

serotonin receptors – social cognition (tameness)

HTR3C

PC

in foxes and dogs [4750]

---

Angus

1

111.66-111.90

LEKR1 CCNL1

PC

reduced birth weight in humans [51]

---

Angus

3

28.19-28.40

TSPAN2

PC

oligodendrocyte signaling & maturation [52, 53]

---

Brahman

5

48.68-48.90

MSRB3

PC

ear floppiness and morphology in dogs [54, 55]

---

Angus, Hanwoo, Simmental, Wagyu

6

5.64-5.99

MAD2L1

PC

proper onset of anaphase during cell division

---

Angus, Simmental, Wagyu

6

106.84-107.30

RGS12

PC

positional candidate for ovulation rate in swine [56]

---

Wagyu

11

33.02-33.26

NRXN1

PC

synaptic function – linked to autism spectrum disorders [57, 58]

---

Simmental

13

66.46-66.70

SAMHD1

PC

innate immune response [59]

---

Angus

14

24.63-25.17

PLAG1

PC

variation in human height [60] and cattle stature [61]

---

Angus, Simmental

16

44.69-44.88

PIK3CD

PC

immune response

SPSB1

PC

immune regulation [62]

---

Simmental, Wagyu

17

73.76-73.97

VpreB

PC

B cell development

PRODH

PC

schizophrenia [63]

---

Angus, Simmental

20

71.67-72.01

IgCgamma

PC

immune response

PDCD6

PC

T cell receptor-induced apoptosis

---

Angus, Hanwoo

21

70.11-71.28

AHNAK2

PC

skeletal muscle fiber organization [64]

IGHE

other

immune response

CRIP1

PC

immune regulation [65, 66]

CRIP2

PC

immune regulation [65, 66]

---

Brahman

22

10.70-10.96

TRANK1

PC

bipolar disorder in humans [67]

DCLK3

PC

brain development [68]

GOLGA4

PC

golgi identity/structure [69]

ITGA9

PC

gamete interaction & reduced fertilization success [70]

---

Wagyu

22

49.08-49.45

TLR9

PC

innate immunity

---

Simmental

25

26.43-26.74

HSA163

HO

autism spectrum disorders [7173]

---

Angus, Hanwoo Simmental, Wagyu

26

0.21-0.45

OR5D18

PC

olfactory receptor [74]

various loci4

PS

olfactory receptor-like variants

---

Wagyu

27

17.91-18.11

CBX1

PC

epigenetic reprogramming of embryo/gene expression [7577]

---

Simmental

28

30.48-30.71

ADK

PC

physiological state – blood flow, neurotransmission in brain [78]

---

Hanwoo, Simmental, Wagyu

29

0.32-0.56

ANKRD26P3

PS

ncRNA regulatory activity

CCDC144C

PS

ncRNA regulatory activity

  1. *Gene and region types are defined as: PC protein coding, PS pseudogene, HO human orthologue, other = known type, unspecific.
  2. 1The causal mutation has not yet been identified but the locus has been fine mapped to this region, see reference.
  3. 2The POLL locus in cattle has been identified but is characterised by allelic heterogeneity among breeds.
  4. 3This region is orthologous to human chromosome 16 (HSA16).
  5. 4There are 13 loci identified as olfactory receptor-like variants which have been determined to be pseudogenes.