Appendix

NATIVE AMERICAN

Core mutations of Native American mDNA clusters

CLUSTER

MUTATIONS

A1

223 390 319 362

A2

111 223 290 319 362

B

189 217

C

223 298 325 327

D

223 325 362

X

223 278

Calibrated origin dates and clan mother names for Native American mDNA clusters

CLUSTER

MOTHER

AGE (YRS)

A

Aiyana

15,800

B

Ina

18,700

C

Chochmingwu

19,600

D

Djigonese

16,900

X

Xenia

15,800

EUROPEAN

Calibrated origin dates, clan mother names, and frequencies for native European mDNA clusters

CLUSTER

FREQUENCY (%)

MOTHER

AGE (YRS)

U5

5.7

Ursula

47,000

HV

5.4

HV

34,000

X (I)

1.7

Xenia

26,000

U4

3.0

Ulrike

20,000

H

37.7

Helena

14,000

T

2.2

Tara

13,000

K

4.6

Katrine

12,500

T2

2.9

Tara

12,000

J

6.1

Jasmine

8,500

T1

2.2

Tara

9,000

AFRICAN

Clan mothers and ages of native African mDNA clusters

NOTATION

CLAN MOTHER

AGE (YRS)

Superclan L1

L1A

Layla

40,000

L1B

Lamia

30,000

L1C

Lalamika

60,000

L1D

Latasha

50,000

L1E

Lalla

83,000

L1F

Labana

86,000

L1K

Lakita

92,000

Superclan L2

L2A

Leisha

55,000

L2B

Lesedi

32,000

L2C

Lingaire

27,000

L2D

Lindewe

122,000

Superclan L3

L3A

Lara

60,000

L3B

Limber

21,000

L3D

Lingaire

30,000

L3E

Lila

45,000

L3F

Lungile

36,000

L3G

Lubaya

45,000

Regional distribution within Africa of the most frequent native African mDNA clusters

REGION

TOP 5 MOST FREQUENT CLUSTERS

East

L1A, L2, L3A, L3F, L3G

Southeast

L1A, L2A1a, L2A1b, L3E

South

L1A, L1D, L1K, L3B, L3E

Central

L1A, L1C, L2A1, L3E

West

L1B, L2A1, L3B, L3D

North

L1B, L2A1, L3B, L3D

FROM

TO

MUTATIONS

Superclan L1

Root

L1

16230

Root

L1D

16129, 16243

L1D

L1D1

16294

L1D

L1D2

16234

Root

L1F

16169, 16327

Root

L1A

16129, 16148, 16172, 16188G, 16278, 16320

L1A

L1A1

16168

L1A1

L1A1a

16278

L1A

L1A2

16129

Root

L1K

16172, 16209, 16214, 16291

L1K

L1K1

16166C

Root

L1E

16129, 16148, 16166

L1E

L1E1

16111, 16254, 16311

L1E

L1E2

16355, 16362

L1

L1B/C

7055R

L1

L1B

16126, 16264, 16270

L1B

L1B1

16293

L1B/C

L1C

16129, 16294, 16360

L1C

L1C1

16293

L1C1

L1C1a

16274

L1C1a

L1C1a1

16214, 16223, 16234, 16249

L1C

L1C2

16265C, 16286G

L1C

L1C3

16187, 16215

L1

L2/3

16187, 16189, 16311

Superclan L2

L2/3

L2

16390

L2

L2C

13957R

L2C

L2C1

16318

L2C

L2C2

16264

L2

L2A

13803R, 16294

L2A

L2A1

16309

L2A1

L2A1a

16286

L2A1

L2A1b

16290

L2

L2D

3693R, 16399

L2D

L2D1

16129, 16189, 16223, 16300, 16354

L2D

L2D2

16111A, 16145, 16239, 16292, 16355

L2

L2B

4157R, 16129, 16114A, 16213

L2B

L2B1

16362

Superclan L3

L2/3

L3

3592R, 16278

L3

L3F

16209, 16311

L3F

L3F1

16292

L3

L3G

16293T, 16311, 16355, 16362

L3

L3B/D

16124

L3B/D

L3B

10084R, 16278, 16362

L3B

L3B1

16124

L3B

L3B2

16311

L3B/D

L3D

8616R

L3D

L3D1

16319

L3D

L3D2

16256

L3D

L3D3

16189, 16278, 16304, 16311

L3

L3E

2349R

L3E

L3E3/4

5260R

L3E3/4

L3E4

16264

L3E3/4

L3E3

16265T

L3E

L3E2

16320

L3E

L3E2b

16172, 16189

L3E

L3E1

16327

L3E1

L3E1a

16185

L3E1

L3E1b

16325

L3A

M

10397R

L3A

N

10871R

Mutations in the African mDNA tree.

Numbers are positions of mutations in the mDNA sequence. Positions without a suffix are transitions. Suffixes A, G, C, T indicate transversions to these bases. Suffix del indicates a deletion while R is a restriction enzyme variant.

CLAN DONALD GENEALOGY

Identification of individuals on Clan Donald genealogy
(see Fig.2)

CODE

NAME

DATES

BRANCH

A

Somerled

c. 1100–1164

B

Dugall, founder of Clan Dougal of Lorne

c. 1118–?

C

Donald MacRanald of the Isles

1190–1269

D

Alastair Mor MacDonald, founder of Clan Alastair

d. 1299

E

John MacDonald, Lord of the Isles

d. 1386

F

Ranald Macdonald, 1st of Clanranald and Glengarry

d. 1386

G

Donald Gallach MacDonald, 3rd of Sleat

d. 1506

H

Ranald Mor MacDonald, 7th of Keppoch

d. 1547

I

Alan MacDonald, 4th of Clanranald

1437–1481

J

Donald Gruamach MacDonald, 4th of Sleat

d. 1534

K

Ian Moidartach MacDonald, 8th of Clanranald

1502–1584

L

Sir Donald Breac Macdonald, 10th of Sleat

1605–1678

M

Ranald Alexander MacDonald, 24th of Clanranald

Living

Clanranald

N

P. M. Macdonald

Living

Glenaladale

O

J. J. Macdonald

Living

Bornish

P

Ranald MacDonell, 23rd of Glengarry

Living

Glengarry

Q

Allan Douglas MacDonald of Vallay

Living

Vallay

R

Sir Iain Godfrey MacDonald, 25th of Sleat

Living

Sleat

S

David Foster Macdonald, 17th of
Castle Camus

Living

Castle Camus

T

D. B. Macdonald

Living

Sleat

U

W. F. Macdonald

Living

Achnancoichean

V

L. McDonald

Living

Bohuntin

Details of Y chromosome mutations in Clan Donald genealogy (See Fig.2)

LINK

MARKER

MUTATION

C–E

458

16–15

E–G

557

15–16

F–P

449

31–32

F–P

456

17–16

F–P

CDYa

34–35

G–T

GATAH4

12–11

H–U

448

20–21

H–U

449

30–31

H–U

GATAH4

12–11

H–V

570

18–19

H–V

390

25–24

I–O

CDYb

38–37

J–L

448

20–19

J–S

449

31–32

J–S

460

11–10

J–S

557

15–17

K–M

389a

14–13

K–M

390

25–24

K–M

449

31–32

K–M

576

17–18

K–M

CDYb

38–37

K–N

GATAH4

12–10

K–N

CDYa

34–33

K–N

449

31–30

K–N

458

15–16

L–R

607

16–15

app1.eps

app2.eps

Code letters in column 1 identify deceased (shaded) and living individuals on Fig. 2 (p. 108). Markers 1–38 are identified in row 2.

Numbers in table body are allele repeat lengths of Y chromosomes that differ from values deduced for Somerled (row A)

The location of 146 important genes, showing their order from right to left along each chromosome (Column 1), the body system involved (Column 2), the encoded protein (Column 3), and the international gene symbol (Column 4).

REF

SYSTEM

PROTEIN

SYMBOL

1.1

Digestion

Chymotrysin C

CTRC

1.2

Bones, skin, teeth, and joints

Bone morphogenetic protein 8a/b

BMP8A/B

1.3

Metabolism

Leptin receptor

LEPR

1.4

Digestion

Amylase

AMY1 and 2

1.5

Digestion

Cathepsin K and S

CTSK/S

1.6

Muscle

Tropomyosin 3

TPM3

1.7

Brain and nerves

Laminin gamma 2

LAMC2

1.8

Liver and kidney

Renin

REN

1.9

Muscle

Actin alpha 1, skeletal muscle

ACTA1

1.10

Eyes

Opsin 3

OPN3

2.1

Immunity

Immunoglobulin kappa constant

IGKC

2.2

Bones, skin, teeth, and joints

Bone morphogenetic protein 10

BMP10

2.3

Digestion

Lactase

LCT

2.4

Brain and nerves

Sodium channel 9

SCN9A

2.5

Heart and lung

Collagen type 3

COL1A3

2.6

Eyes

Crystallin gamma A

CRYGA

2.7

Pigmentation

Fibronectin

FN1

2.8

Eyes

Crystallin beta A2

CRYBA2

2.9

Liver and kidney

Collagen type 4,
alpha 3/4

COL4A3/4

2.10

Metabolism

Glucagon

GCG

3.1

Eyes

Retinoic acid receptor beta

RARB

3.2

Metabolism

Parathyroid hormone 1 receptor

PTH1R

3.3

Digestion

Lactotransferrin

LTF

3.4

Metabolism

Phosphodiesterase

PDE12

3.5

Muscle

Myosin HC 15

MYH15

3.6

Eyes

Rhodopsin

RHO

4.1

Brain and nerves

Huntingtin

HTT

4.2

Bones, skin, teeth, and joints

Fibroblast growth factor 3

FGFR3

4.3

Bones, skin, teeth, and joints

Enamalin

ENAM

4.4

Bones, skin, teeth, and joints

Ameloblastin

AMBN

4.5

Immunity

Immunoglobulin J

IGJ

4.6

Liver and kidney

Alcohol dehydrogenase

ADH1A

4.7

Pigmentation

Hair color 2 (red)

HCL2

5.1

Blood

Thrombospondin 4

THBS4

5.2

Muscle

Myosin X

MYOX

5.3

Pigmentation

Solute carrier, family 45, member A2

SLC45A2

5.4

Bones, skin, teeth, and joints

Growth hormone receptor

GHR

5.5

Bones, skin, teeth, and joints

Fibroblast growth factor 10

FGF10

5.6

Bones, skin, teeth, and joints

Fibrillin 2

FBN2

5.7

Bones, skin, teeth, and joints

Lysyl oxidase

LOX

5.8

Bones, skin, teeth, and joints

Fibroblast growth factor 1

FGF1

5.9

Metabolism

Insulin dependent diabetes 10

IDDM10

6.1

Immunity

HLA region

HGC

6.2

Eyes

Opsin 5

OPN5

6.3

Muscle

Myosin VI

MYO6

6.4

Brain and nerves

Laminin alpha 2/4

LAMA2/4

6.5

Brain and nerves

Opioid receptor mu 1

OPRM1

6.6

Blood

Plasminogen

PLG

6.7

Blood

Thrombospondin 2

THBS2

7.1

Muscle

Actin beta

ACTB

7.2

Muscle

Myosin light chain 7

MYL7

7.3

Bones, skin, teeth, and joints

Elastin

ELN

7.4

Blood

Erythropoietin

EPO

7.5

Bones, skin, teeth, and joints

Collagen type 1, alpha 2

COL1A2

7.6

Brain and nerves

Acetylcholinesterase

ACHE

7.7

Eyes

Opsin 1 cone short wave

OPN1SW

7.8

Brain and nerves

Olfactory receptor 2A.25

OR2A25

8.1

Heart and lung

Surfactant protein C

SFTPC

8.2

Bones, skin, teeth, and joints

Fibroblast growth factor receptor 1

FGFR1

8.3

Blood

Plasminogen activator (tissue)

HBB

8.4

Brain and nerves

Opioid receptor kappa 1

OPRK1

8.5

Blood

Angiopoietin 1

ANGPT1

8.6

Brain and nerves

Otoconin

OC90

9.1

Immunity

Inteferon alpha

IFNA

9.2

Muscle

Tropomyosin 2

TPM2

9.3

Digestion

Beta glucosidase (bile acid)

GBA2

9.4

Bones, skin, teeth, and joints

Osteoclast stimulating factor 1

OSTF1

9.5

Bones, skin, teeth, and joints

Osteoglycin

OGN

9.6

Blood

Hemogen

HEMGN

9.7

Blood

ABO blood group

ABO

10.1

Eyes

Optineurin

OPTN

10.2

Muscle

Myosin IIIA

MYO3A

10.3

Eyes

Opsin 4

OPN4

10.4

Muscle

Actin alpha 2, smooth muscle

ACTA2

10.5

Digestion

Trypsin

TYSND1

10.6

Heart and lung

Adrenergic alpha 2A/beta receptor

ADRA2A/B1

10.7

Metabolism

Cytochrome P450, family 2C, polypeptide

CYP2C9

10.8

Heart and lung

Pancreatic lipase

PNLIP

11.1

Blood

Beta globin

HBB

11.2

Metabolism

Insulin

INS

11.3

Brain and nerves

Otogelin

OTOG

11.4

Digestion

Pepsin

PGA3

11.5

Digestion

Cathepsin C

CTSC

11.6

Pigmentation

Tyrosinase

TYR

11.7

Eyes

Crystallin alpha B

CRYAB

11.8

Immunity

Thymocyte cell surface antigen

THY1

12.1

Immunity

Alpha 2 macroglobulin

A2M

12.2

Digestion

Islet amyloid polypeptide

IAPP

12.3

Pigmentation

Keratin 1-5

KRT1-5

12.4

Bones, skin, teeth, and joints

Collagen type 2

COL2A1

12.5

Digestion

Peptidase B

PEPB

12.6

Pigmentation

KIT ligand

KITLG

12.7

Immunity

Thympoietin

TMPO

12.8

Digestion

Phopholipase A2

PLA2G1B

13.1

Brain and nerves

Olfactomedin 4

OLFM4

13.2

Brain and nerves

Olfactory receptor E

OR7E

13.3

Muscle

Myosin XVI

MYO16

13.4

Liver and kidney

Collagen type 4, alpha 1 and 2

COL4A1/2

14.1

Heart and lung

Myosin heavy chain 6 and 7, cardiac

MYH6/7

14.2

Metabolism

Estrogen receptor 2

ESR2

14.3

Bones, skin, teeth, and joints

Bone morphogenetic protein 4

BMP4

14.4

Blood

Spectrin beta

SPTB

14.5

Digestion

Chymotrypsin

CTRB1

14.6

Brain and nerves

Creatine kinase (brain)

CKB

14.7

Immunity

Immunoglobulin H alpha 1

IGHA1 et al.

15.1

Muscle

Actin alpha 1, cardiac muscle

ACTC1

15.2

Pigmentation

Oculocutaneous albinism II

OCA2

15.3

Brain and nerves

Cholinergic receptor nicotinic alpha 7

CHRNA7

15.4

Pigmentation

Solute carrier, family 24 member 5

SLC24A5

15.5

Blood

Thrombospondin 1

THBS1

15.6

Muscle

Myosin 1E

MYO1E

15.7

Pigmentation

Hair color 3 (brown)

HCL3

15.8

Bones, skin, teeth, and joints

Chondroitin sulfate proteoglycan 4

CSPG4

15.9

Bones, skin, teeth, and joints

Aggrecan

ACAN

16.1

Blood

Alpha globin

HBA1 and 2

16.2

Digestion

Myosin HC 11, smooth muscle

MYH11

16.3

Blood

Alpha hemoglobin stabilizing protein

AHSP

16.4

Muscle

Myosin light chain kinase 3

MYLK3

16.5

Blood

Haptoglobin

HP

16.6

Digestion

Chymotrypsinogen B1/2

CTRB1/2

16.7

Pigmentation

Melanocortin 2 receptor

MC2R

17.1

Muscle

Myosin, heavy chain 1, skeletal adult

MYH1-4

17.2

Eyes

Crystallin beta A1

CRYBA1

17.3

Bones, skin, teeth, and joints

Collagen type 1, alpha 1

COL1A1

17.4

Digestion

Gastrin

GAST

17.5

Heart and lung

Angiotensin 1 converting enzyme

ACE

17.6

Metabolism

Glucagon receptor

GCGR

17.7

Muscle

Actin gamma

ACTG1

18.1

Pigmentation

Melanocortin 2 receptor

MC2R

18.2

Metabolism

Insulin-dependent diabetes 6

IDDM6

18.3

Digestion

Gastrin-releasing peptide

GRP

18.4

Brain and nerves

Myelin basic protein

MBP

19.1

Metabolism

Insulin receptor

INSR

19.2

Pigmentation

Hair color
(1 brown)

HCL1

19.3

Brain and nerves

Myelin-associated glycoprotein

MAG

19.4

Digestion

Gastric inhibitory polypeptide receptor

GIPR

20.1

Liver and kidney

Arginine vasopressin

AVP

20.2

Pigmentation

Agouti signaling peptide

ASIP

20.3

Metabolism

Topoisomerase 1

TOP1

20.4

Bones, skin, teeth, and joints

Bone morphogenetic protein 7

BMP7

20.5

Bones, skin, teeth, and joints

Collagen, type IX, alpha 3

COL9A3

21.1

Bones, skin, teeth, and joints

Chondrolectin

CHODL

21.2

Eyes

Crystallin alpha A

CRYAA

22.1

Immunity

Immunoglobulin lambda constant

IGKC

22.2

Eyes

Crystallin beta A4

CRYBA4

22.3

Brain and nerves

Synaptogyrin 1

SYNGR1