Martinović Klarić et al. (2008)

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Klarić et al. (2008)

Dissecting the molecular architecture and origin of Bayash Romani patrilineages: Genetic influences from South-Asia and the Balkans

American Journal of Physical Anthropology Volume 138 Issue 3, Pages 333 - 342

Received: 3 June 2008; Accepted: 30 July 2008; Published Online: 11 Sep 2008 http://www3.interscience.wiley.com/journal/121406693/abstract Digital Object Identifier (DOI) 10.1002/ajpa.20933

Contents 1 Authors 2 Abstract 3 Quotes 4 See Also 5 Data

Authors

Irena Martinović Klarić 1 *, Marijana Periić Salihovi 1, Lovorka Barać Lauc 1, Lev A. Zhivotovsky 2, Siiri Rootsi 3, Branka Janićijević 1

1. Institute for Anthropological Research, Zagreb, Croatia 2. N. I. Vavilov Institute for General Genetics, Russian Academy of Sciences, Moscow, Russia 3. Estonian Biocentre, University of Tartu, Tartu, Estonia email: Irena Martinović Klarić (irena@inantro.hr)

* Correspondence to Irena Martinović Klarić, Institute for Anthropological Research, Gajeva 32, Zagreb 10000, Croatia

Funded by:

The Ministry of Science, Technology and Sports of the Republic of Croatia; Grant Number: 196-1962766-2763
RFBR Grant; Grant Number: 07-04-00171
Wenner-Gren Foundation Grant; Grant Number: 7349
The Program RAS Molecular and Cell Biology
Estonian Science Foundation; Grant Number: 7445
Estonian Ministry of Science and Education; Grant Number: SF0270177s08

Abstract

The Bayash are a branch of Romanian speaking Roma living dispersedly in Central, Eastern, and Southeastern Europe. To better understand the molecular architecture and origin of the Croatian Bayash paternal gene pool, 151 Bayash Y chromosomes were analyzed for 16 SNPs and 17 STRs and compared with European Romani and non-Romani majority populations from Europe, Turkey, and South Asia. Two main layers of Bayash paternal gene pool were identified: ancestral (Indian) and recent (European). The reduced diversity and expansion signals of H1a patrilineages imply descent from closely related paternal ancestors who could have settled in the Indian subcontinent, possibly as early as between the eighth and tenth centuries AD. The recent layer of the Bayash paternal pool is dominated by a specific subset of E1b1b1a lineages that are not found in the Balkan majority populations. At least two private mutational events occurred in the Bayash during their migrations from the southern Balkans toward Romania. Additional admixture, evident in the low frequencies of typical European haplogroups, J2, R1a, I1, R1b1b2, G, and I2a, took place primarily during the early Bayash settlement in the Balkans and the Romani bondage in Romania. Our results indicate two phenomena in the Bayash and analyzed Roma: a significant preservation of ancestral H1a haplotypes as a result of considerable, but variable level of endogamy and isolation and differential distribution of less frequent, but typical European lineages due to different patterns of the early demographic history in Europe marked by differential admixture and genetic drift.

Quotes

One hundred and fifty-one Bayash Y-chromosomes examined with 16 Y-SNP markers, revealed eight distinct haplogroups of which six displayed frequencies higher than 5% (see Fig. 2). Two haplogroups, H1a and E1b1b1a, occurred at massive and substantial frequencies and together accounted for three fourths of all Bayash Y chromosomes, whereas remaining haplogroups were found at a more modest frequency range of 1–8%.

...

E1b1b1a-M78 is the second most frequent haplogroup in the studied population (see Fig. 2). It occurs in 15% of the Bayash from Baranja and in as many as 42% of the Bayash from Med-imurje. Haplogroup E1b1b1a-M78 has previously been observed in Eastern and Northern Africa, Southern Europe, and Near East (Semino et al., 2004; Cruciani et al., 2004, 2007). On the other side, E1b1b1a-M78 has not yet been reported in India and only two people were found to bear this mutation in Pakistan (Sengupta et al., 2006). Noteworthy is the fact that E1b1b1-M35 lineages made up less than 5% of the paternal gene pool in Romani populations studied by Gresham et al. (2001) and Gusma˜o et al. (2007), and as much as 30% in Macedonian Roma studied by Perečić et al. (2005a).

A recent refinement of E1b1b1a-M78 by novel biallelic markers indicates that its subhaplogroup E1b1b1a2-V13 is the most common in Europe (Cruciani et al., 2007). In fact, E1b1b1a2-V13 originated in Western Asia about 11 KYA and expanded in Southeastern Europe about 4.5 KYA, not in connection with the spread of agriculture as traditionally assumed, but rather at the beginning of the Balkan Bronze age, as a consequence of the in situ population increase in the already populated territory (Cruciani et al., 2007). Even though STR-defined clusters may not always exactly correspond to monophyletic groups of chromosomes (Cruciani et al., 2007), a striking correspondence between the STR cluster alpha and the binary haplogroup E1b1b1a2-V13 was confirmed, as all cluster alpha chromosomes belong to E1b1b1a2-V13 (cluster alpha chromosomes constitute a major branch of E1b1b1a2-V13) whereas only some of E1b1b1a2-V13 chromosomes are not contained in the cluster (Cruciani et al., 2006). All E1b1b1a-M78 chromosomes in the Bayash analyzed in this study as well as the 93% of the Southeastern European E1b1b1a-M78 chromosomes published previously Perečić et al. (2005a) are characterized by the 9-repeat allele at DYS460, as a proxy to E1b1b1a2-V13.

Y-STR analysis of E1b1b1a-M78 chromosomes identified nine discrete haplotypes (Table 1). The same most frequent haplotype was found in both regions and its two-step derivate in additional seven men from Med-imurje. The presence of a few haplotypes differing from the most common haplotype and by each other by multiple mutation steps is reflected in relatively high haplogroup diversity indices (Table 2). The fact that high E1b1b1a frequency in Croatian Bayash is accompanied by the relatively high associated variance might be a consequence of multiple episodes of gene flow from different sources throughout the Balkans and possibly along the migratory route prior to reaching the Balkans.

The finding of E1b1b1a-M78 lineages in 5% of southern Iranian men (Reguiero et al., 2006), unfortunately without associated STR data, might be very important because it is agreed that the Roma arrived and stayed in Persia during the ninth century AD (Hancock, 1987; Fraser, 1992). Asia Minor was another region that served as an open door for the immigration of Romani people and their subsequent spread into the Balkan region. Indeed, 5% of contemporary Turkish paternal gene pool is made of E1b1b1a-M78 lineages (Cinnioğlu et al., 2004), which, in fact, originate from a back migration expanding from South and Southeastern Europe (Perečić et al., 2005b).

Therefore, Croatian Bayash E1b1b1a haplotypes were compared with the chromosomes from neighboring majority populations in Eastern, Southeastern and Southern Europe (Perečić et al. (2005a); Bosch et al., 2006), Turkey (Cinnioğlu et al., 2004) as well as available European Romani populations (Gresham et al., 2001; Kalaydjieva et al., 2001; Perečić et al. (2005a); Gusma˜o et al., 2007) (Fig. 3d). The majority of Croatian Bayash chromosomes form a separate subset which is four and five mutation steps away from the most common E1b1b1a lineage in Eastern, Southeastern (i.e. Macedonian, Kosovar and Serbian) European, and Turkish populations, whereas the majority of other European Roma do not. Intriguingly, when the YHRD database was queried for the 10 loci set (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS438, DYS439), the most frequent Bayash E1b1b1a lineage did not have a single match in 235 world populations, whereas the search for the eight loci set (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385) revealed five matches in Hungary, of which four in Roma from Hungarian part of Baranja. On the basis of the presented data, it is most likely that E1b1b1a lineages originated in the Bayash and other European Roma as the consequence of admixture with the majority populations in the Balkans, especially in the Vardar-Morava-Danube catchment basin, before significant fragmentation of the Roma and their spread across the entire European continent between the fourteenth and fifteenth centuries AD (Fraser, 1992; Achim, 2004). Furthermore, it is conceivable that at least two private mutational events occurred in the Bayash with respect to the existing E1b1b1a lineages in the Balkans (Fig. 3d), in the time when they started to migrate from the southern regions of the Balkans toward north of the Danube, into historic Romanian principalities. Over the course of several centuries, these private Bayash E1b1b1a lineages were preserved in high percentage because of the action of random genetic drift.

See Also

Dienekes blog comment: http://dienekes.blogspot.com/2008/09/y-chromosomes-of-bayash-romani.html

E-M35 Project Discussion: http://community.haplozone.net/index.php?topic=806.0

Data

Hg	Ht no.	DYS393	DYS390	DYS19	DYS391	DYS385a,b	DYS439	DYS389I	DYS392	DYS389II	DYS458	DYS437	DYS448	GATA H4	DYS456	DYS438	DYS635	Baranja (n = 96)	Medimurje (n = 55)
H1a	1	12	22	14	10	15.17	11	14	11	30	18	14	19	12	15	9	20	1
	2	12	22	15	10	14.17	11	14	11	30	17	14	18	12	15	9	20	4
	3	12	22	15	10	15.16	11	14	11	30	17	14	18	12	15	9	20	3
	4	12	22	15	10	15.17	11	13	11	29	17	14	19	12	15	9	20	2
	5	12	22	15	10	15.17	11	14	11	30	16	14	18	12	15	9	20	4
	6	12	22	15	10	15.17	11	14	11	30	17	14	18	12	15	9	20	25	18
	7	12	22	15	10	15.17	11	14	11	30	18	14	19	12	15	9	20	2	3
	8	12	22	15	10	15.17	12	14	11	30	16	14	18	12	16	9	20	1
	9	12	22	15	11	15.17	11	14	11	30	17	14	18	12	15	9	20	1
	10	12	22	15	9	15.17	11	14	11	31	17	14	18	12	15	9	20	2
	11	12	22	15	10	15.17	11	15	11	31	17	14	18	12	15	9	20	1
	12	12	22	15	10	15.17	11	15	11	31	18	14	19	12	15	9	20		3
	13	12	22	15	10	15.18	11	14	11	30	17	14	19	12	15	9	20	1
	14	12	22	15	10	15.18	11	15	11	31	18	14	19	12	15	9	20		1
	15	12	23	15	10	15.19	12	12	12	28	15	14	19	12	14	9	21	1
	16	12	22	16	10	15.17	11	14	11	30	17	14	18	12	15	9	20		3
E1b1b1a	17	14	24	13	10	14.18	11	13	11	30	19	14	20	12	15	10	23	1
	18	13	24	13	11	16.18	13	14	11	31	15	14	20	12	17	10	21	2
	19	13	24	13	10	16.19	12	13	11	30	15	14	20	11	18	10	22	1
	20	12	24	14	10	17.17	12	14	11	31	16	14	20	12	15	10	23		3
	21	12	24	14	10	17.18	12	14	11	31	15	14	20	12	15	10	22	6	12
	22	12	24	14	10	17.18	12	14	11	31	16	14	20	12	15	10	23		7
	23	12	25	14	10	17.18	12	14	11	31	16	14	20	12	15	10	23	3
	24	12	24	14	10	17.19	12	14	11	31	15	14	20	12	15	10	23	1
	25	12	24	14	10	18.18	12	14	11	31	15	14	20	12	15	10	22		1
G	26	14	22	15	10	14.15	11	13	11	30	17	16	21	12	15	10	20	1
I1	27	14	22	14	10	14.14	12	12	11	28	15	16	20	11	14	10	22	7
	28	13	22	15	10	14.14	11	12	11	28	14	16	20	11	14	10	21		1
I2a	29	13	24	16	11	15.15	14	12	11	30	17	15	20	11	15	10	23		1
J2	30	12	23	14	10	13.16	11	14	11	31	16	14	20	9	15	9	21	1
	31	12	23	14	10	13.16	11	14	11	31	17	14	20	9	15	9	21	2
	32	12	23	14	10	13.16	11	14	11	31	17	14	20	10	15	9	21	8
	33	12	22	15	10	13.15	11	13	11	32	15	14	21	12	15	9	21	1
Rla	34	13	25	15	11	11.14	10	13	11	31	16	14	20	12	15	11	23		1
	35	13	25	15	11	11.14	10	13	11	31	16	14	20	13	15	11	23	2
	36	13	25	15	11	11.14	10	13	11	32	16	14	20	13	15	11	23	2
	37	13	26	15	11	11.14	10	13	11	32	16	14	20	13	15	11	23	1
	38	13	25	15	10	11.14	10	14	11	32	16	14	20	13	15	11	23	3
	39	13	25	16	10	10.14	10	13	11	31	16	14	20	11	15	11	23	1
	40	13	25	16	10	11.11	12	13	11	30	15	14	20	12	17	11	23	1
	41	13	25	16	10	11.14	11	13	11	29	16	14	20	12	17	11	23	1
R1b1b2	42	13	23	13	10	11.14	12	13	13	29	16	15	19	13	15	12	23	3
	43	13	23	14	11	11.14	10	13	13	29	17	14	20	11	16	12	24		1