Bosch et al. (2006)

From Haplowiki

Bosch et al. (2006)

"Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns"

Annals of Human Genetics 70: 459–487

http://www3.interscience.wiley.com/journal/118548826/abstract

DIGITAL OBJECT IDENTIFIER (DOI) 10.1111/j.1469-1809.2005.00251.x

Received: 22 July 2005 Accepted: 3 October 2005

Contents 1 Authors 2 Abstract 3 Data 4 STR data 5 Relevant Quotes

Authors

E. Bosch 1 , F. Calafell 1 , A. González-Neira 1,*, C. Flaiz 1,2 , E. Mateu 1 , H.-G. Scheil 3 , W. Huckenbeck 4 , L. Efremovska 5 , I. Mikerezi 6 , N. Xirotiris 7 , C. Grasa 8 , H. Schmidt 2 and D. Comas 1,†

Associations: 1 Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona, Spain 2 Institute of Human Genetics and Anthropology, University of Ulm, Germany 3 Institute of Human Genetics and Anthropology, Heinrich-Heine-University Düsseldorf, Germany 4 Institute of Legal Medicine, Heinrich-Heine-University Düsseldorf, Germany 5 Institute of Physiology, Medical Faculty Skopje, Republic of Macedonia 6 Faculty of Natural Science, University Tirana, Albania 7 Laboratory of Anthropology, Democritus University of Thrace, Komotini, Greece 8 University Ovidius, Constanta, Romania

†Correspondence author: David Comas, Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Spain. Tel: +34 93 5422844; Fax: +34 93 5422802; E-mail: david.comas@upf.edu Current address: Departamento de Genética Humana, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.

Abstract

The Balkan Peninsula is a complex cultural mosaic comprising populations speaking languages from several branches of the Indo-European family and Altaic, as well as culturally-defined minorities such as the Aromuns who speak a Romance language. The current cultural and linguistic landscape is a palimpsest in which different peoples have contributed their cultures in a historical succession. We have sought to find any evidence of genetic stratification related to those cultural layers by typing both mtDNA and Y chromosomes, in Albanians, Romanians, Macedonians, Greeks, and five Aromun populations. We have paid special attention to the Aromuns, and sought to test genetically various hypotheses on their origins.

MtDNA and Y-chromosome haplogroup frequencies in the Balkans were found to be similar to those elsewhere in Europe. MtDNA sequences and Y-chromosome STR haplotypes revealed decreased variation in some Aromun populations. Variation within Aromun populations was the primary source of genetic differentiation. Y-chromosome haplotypes tended to be shared across Aromuns, but not across non-Aromun populations. These results point to a possible common origin of the Aromuns, with drift acting to differentiate the separate Aromun communities. The homogeneity of Balkan populations prevented testing for the origin of the Aromuns, although a significant Roman contribution can be ruled out.

Data

ALB, Albanians; GRE, Greeks from Thrace; MAC, Macedonians; ROMC, Romanians from Constanta; ROMP, Romanians from Ploiesti; AAD, Aromuns from Dukasi in Albania; AAA, Aromuns from Andon Poci in Albania; AMK, Aromuns from Krusevo in Macedonia; AMS, Aromuns from the Stip region in Macedonia and ARO, Aromuns from Romania.

'	ALB	GRE	MAC	ROMC	ROMP	AAD	AAA	AMK	AMS	ARO
(N)	30	41	52	31	36	39	19	43	65	42
E1-M33	-	-	-	0.032	-	-	-	-	-	-
E3b1-M78	0.233	0.171	0.212	0.097	0.139	0.179	0.158	0.186	0.185	0.071
E3b2-M81	-	-	-	-	-	-	-	0.023	-	-
E3b3-M123	-	0.024	0.019	-	0.028	-	-	-	-	-
G-M201	0.033	0.049	0.038	0.129	0.083	0.103	-	0.07	-	-
H-M69	0.067	-	-	-	0.028	-	-	-	-	-
I-M170	0.167	0.195	0.288	0.419	0.389	0.179	0.421	0.209	0.169	0.19
J(x2)-12f2	0.033	-	-	-	0.028	0.026	-	-	-	-
J2-M172	0.167	0.195	0.115	0.065	0.167	0.462	0.053	0.116	0.2	0.333
K(xP)-M9	0.033	0.024	0.038	-	-	-	-	-	-	0.095
R1*-M173×(R1a,R1b)	-	-	0.019	-	-	-	-	-	-	-
R1a1-M17	0.133	0.22	0.135	0.097	0.056	0.026	-	0.116	0.215	0.024
R1b-PN25	0.133	0.122	0.135	0.161	0.083	0.026	0.368	0.279	0.231	0.238

STR data

HG	HT	DYS19	DYS389I	DYS389II	DYS390	DYS391	DYS392	DYS393	DYS385	DYS388	DYS434	DYS435	DYS436	DYS437	DYS438	DYS439	DYS460	DYS461	DYS462	AAA	AAD	AMK	AMS	ARO	GRE	ALB	MAC	ROMP	ROMC	TOTAL
E1	3	16	12	30	22	10	11	13	14-15	12	10	11	12	16	10	12	9	12	13		1	1								2
E3b1	4	13	11	27	24	10	11	13	16-19	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	5	13	12	29	24	10	11	13	16-17	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	6	13	12	29	24	10	11	14	16-18	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	7	13	12	31	23	10	11	13	16-18	12	11	11	12	14	10	11	9	12	12		1		1							2
E3b1	8	13	13	29	24	9	11	13	16-19	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	9	13	13	29	24	10	11	13	16-18	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	10	13	13	29	24	10	11	13	16-19	12	11	11	12	14	10	12	9	12	12		3		3		6					12
E3b1	11	13	13	30	24	10	10	13	17-18	12	11	11	12	14	10	12	9	12	12		1	1								2
E3b1	12	13	13	30	24	10	11	13	15-18	12	11	11	12	14	10	12	9	12	12		1	1								2
E3b1	13	13	13	30	24	10	11	13	15-20	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	14	13	13	30	24	10	11	13	16-17	12	11	11	12	14	10	12	9	12	12		1	1								2
E3b1	15	13	13	30	24	10	11	13	16-18	12	11	11	12	14	10	9	9	12	12		1		1							2
E3b1	16	13	13	30	24	10	11	13	16-18	12	11	11	12	14	10	11	9	12	12		1		1							2
E3b1	17	13	13	30	24	10	11	13	16-18	12	11	11	12	14	10	12	9	12	12		1		3	1	1	1		7		14
E3b1	18	13	13	30	24	10	11	13	16-18	12	11	11	12	14	10	12	9	13	12		1		1							2
E3b1	19	13	13	30	24	10	11	13	16-18	12	11	11	12	14	11	11	9	12	12		2		2							4
E3b1	20	13	13	30	24	10	11	13	16-18	12	11	11	12	14	12	12	9	11	12		1		1							2
E3b1	21	13	13	30	24	10	11	13	16-19	12	11	11	12	14	10	12	9	11	12		1		1							2
E3b1	22	13	13	30	24	10	11	13	16-19	12	11	11	12	14	10	12	9	12	12		2		2							4
E3b1	23	13	13	30	24	10	11	13	16-19	13	11	11	12	14	10	12	10	13	12		1		1							2
E3b1	24	13	13	30	24	10	11	13	17-17	12	11	11	12	14	10	13	9	12	12		1		1							2
E3b1	25	13	13	30	24	10	11	13	17-18	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	26	13	13	30	24	10	11	14	16-16	12	11	11	12	14	10	12	10	12	12		1		1							2
E3b1	27	13	13	30	24	10	11	14	16-18	12	11	11	12	14	10	12	9	13	12		1		1							2
E3b1	28	13	13	30	24	11	11	13	16-18	12	11	11	12	14	10	12	9	12	12		6	2		8						16
E3b1	29	13	13	30	24	11	11	13	16-18	12	11	11	12	14	10	13	9	12	12		1		1							2
E3b1	30	13	13	30	25	10	11	13	15-18	12	11	11	12	14	10	11	9	12	12	1		1								2
E3b1	31	13	13	30	25	11	11	13	17-17	12	11	11	12	14	10	11	9	11	12		1		1							2
E3b1	32	13	13	31	24	10	11	13	16-16	11	11	11	12	14	10	12	9	13	12		1		1							2
E3b1	33	13	13	31	24	10	11	13	17-18	12	10	11	12	14	10	12	9	12	12		1		1							2
E3b1	34	13	13	31	24	11	11	13	16-18	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	35	13	13	31	25	10	11	13	15-18	12	11	11	12	14	10	11	9	12	12		1		1							2
E3b1	36	13	14	30	24	10	11	13	16-19	12	11	11	12	14	10	12	9	12	12		2		2							4
E3b1	37	13	14	31	24	10	11	13	16-18	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	38	13	14	31	24	10	11	13	17-18	12	11	11	12	14	10	11	9	12	12	2		2								4
E3b1	39	13	14	31	24	10	12	13	17-20	12	11	11	12	14	10	12	9	12	12		2		2							4
E3b1	40	14	13	30	24	10	11	13	17-17	12	11	11	12	14	10	11	9	11	12		1		1							2
E3b1	41	14	13	30	24	10	11	14	17-18	12	11	11	12	14	10	11	11	12	12		1		1							2
E3b1	42	14	13	30	24	11	11	13	17-19	12	11	11	12	14	10	11	11	12	12		2		2							4
E3b1	43	14	13	31	24	10	11	13	16-17	12	11	11	12	14	10	12	9	12	12		1		1							2
E3b1	44	14	13	31	24	10	11	13	16-18	12	11	11	12	14	10	11	9	12	12		1		1							2
E3b1	45	14	13	31	24	10	11	14	17-18	12	11	11	12	14	10	11	11	12	12		1		1							2
E3b2	46	13	13	29	24	9	11	13	14-14	12	11	11	12	14	10	10	11	13	12		1		1							2
E3b2	47	13	13	31	24	9	11	14	17-17	12	11	11	12	14	10	13	10	11	12		1		1							2
E3b2	48	13	14	32	25	10	11	13	16-16	12	11	11	12	14	11	11	10	11	12		1		1							2
E3b2	49	13	14	33	24	9	11	13	16-18	12	11	11	12	14	10	11	10	11	12		1		1							2

Relevant Quotes

E3b1-M78 chromosomes displayed a star-like network with two Y-STR haplotypes, ht17 and ht28 (Appendix III), in its centre, separated by just one repeat difference at DYS391. DYS460 displayed a nine-repeat allele in all but six (91%) of the E3b1-M78 chromosomes analysed here. With the possible exception of these six chromosomes, most of our E3b1-M78 chromosomes probably belong to the α cluster (Cruciani et al. 2004) within the E3b1-M78 lineage, characterised by the nine-repeat allele at DYS461, which has been reported as very common in the Balkans and the Aegean region.