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Project Background
Nomenclature of SNP M102+:
J2b* - YCC'2008
J2b1 - ISOGG'2007
J2e1 - YCC'2002
J2b2-M241
M102 Modal Y12 (ySearch ID#MY228)
12-24-15-10-14-17-11-15-12-12-11-28
YHRD.org matches
12-24-15-10-14-17-11-xx-xx-12-11-28
Balkan M102
(SEE) - Southeastern Europe
Haplogroup J defined by a 12f2 polymorphism is subdivided into two major clades, J1-M267 and J2- M172 (Cinnioglu et al. 2004). J2-M172 is more prevalent in Europe where at least five different lineages can be traced—J2e*-M102, J2e1-M241, J2*-M172, J2f*-M67, and J2f1-M92 (fig. 2, Semino et al. 2004). In SEE, the most frequent are J2e lineages that comprise 5% of all chromosomes, while J2f cluster, a predominant J2 cluster in Greeks and Italians (Di Giacomo et al. 2004), is present at a frequency less than 1% (fig. 2). Most likely due to genetic drift, Kosovar Albanians harbor a J2e frequency peak whereas variance maximum declines from the southeastern edge of the studied region (fig. 7A and B).
Even though J2e frequencies do not correlate with geography, J2e variances show significant correlations with latitude and longitude and are highest toward south and east of the region (table 2). The correlation between geography and haplogroup frequencies are significant when all SEE populations are considered and when Kosovar Albanians and Macedonian Romani are. Our estimated range expansion for J2e at 2.8 +/- 1.6 KYA (for all SEE populations) and 3 +/- 1.9 KYA (SEE populations without Kosovar Albanians) succeeds the dates of 7.9 +/- 2.3 KYA (Semino et al. 2004) and 8.6 KYA (Cinnioglu et al. 2004). The J2e-M102 spatial distribution depicted in figure 7(C and D) with two frequency and variance peaks positioned in the Balkans and central Italy may be explained by the maritime spread of J2e lineages from southern Balkans toward Apennines at times later than those based on the classical model of demic expansions carried by Neolithic agriculturists from the Middle East via Balkans toward rest of Europe.
Marijana Pericic et al. - High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations // Mol. Biol. Evol. 22(10):1964–1975. 2005
Greek M12
The absence of J2b-M12 in regions T1 and T8 (Cinnioglu et al., 2004), i.e. those next to the land bridge from Anatolia to Greece, suggests that the first farmers of Greece and the Balkans are less likely to have come overland.
The Thessalian and Greek Macedonian samples exhibit a high frequency (7–9%) of J2b-M12 with an approximate expansion time dating to the Neolithic era of c. 5000BC (Table 2). Previous work on the Balkans (Pericic et al., 2005; Marjanovic et al., 2005) regarding the frequency of J2b-M12 is consistent with our observations in Greece. The geographic origin of J2b-M12 remains unknown; however, Cinnioglu et al., (2004) report its occurrence in SE Anatolia near the Euphrates River (T5) at 4.7%, i.e. the region with some of the first Neolithic communities to have been established beyond the original Levantine core, such as Cayonu, Gobekli Tepe and Hallan Cemi (Cauvin 2000: pp78–91). While the source of J2b-M12 chromosomes in Greece/Balkans remains unclear, it is likely to reside in those regions with an early Neolithic domestic economy based upon unleavened wheat such as present day Syria and the Levant.
King et al. - Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic //Annals of Human Genetics 72,205–214
Iberian Gypsies M102
"Concerning J2b1a-M241, several haplotypes molecularly related with the Portuguese Gypsy J2b1a were observed disseminated in Western European populations and a Pyrenean sample showed a full match to it. Therefore, this might have been incorporated during their passage through Western Europe."
A. Gusmao et al - A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y-Chromosome Lineages // Annals of Human Genetics (2008)
South Asian M102
"The ancestry of J2e1 is J2, defined by marker M172 was suggested to originate from Anatolia (Cinnioglu et al. 2004), with genesis estimated to be 18.5 +/- 3.5 kyears (Semino et al. 2004). The subsequent mutation J2e–M12 is associated with diffusion into Europe from the southern Balkans (Semino et al. 2004). At present, the final known maker of this lineage is J2e1–M241 (Cinnioglu et al. 2004; Shen et al. 2004), which was reported in 0.96% Turkish males (Cinnioglu et al. 2004), 5.22% in India, 2.27% in Pakistan (Sengupta et al. 2006), 6.49% in Nepal Kathmandu and 1.5% Nepal Newar (Cadenas et al. 2006). These distributions suggest the origin of J2e1–M241 may reside within or near the Indian subcontinent. This suggestion is now further supported by the concentration of J2e1 AMELY null among ethnic Indian (Table 1). The J2e1 haplogroup is found in approximately 3% of Singapore Indian, 1.8% Malay and 0% Chinese, while other J2 (non-J2e1) is found in 7.3% Singapore Indian, 2.7% Malay and 0% Chinese (unpublished data). Based on the principle that the accumulation of STR variations within a group of chromosomes originating from the same mutation event could provide an indicative age of the event (Zhivotovsky et al. 2004), we analyzed the Y-STR variation of nulls within similar haplogroup using Singapore database as background. The estimated age of J2-M172 genesis was calculated to be 25.2 +/- 7.2 kyears, while J2e1–M241 was approximately 13.1 +/- 3.1 kyears. The Yp11.2 deletion event was postulated to arise soon after the emergence of J2e1 since its estimated age was 13.5 +/- 3.1 kyears. Among this regional set of J2e1 null samples, a novel polymorphism was identified at Y-GATA-H4 locus (17181855G > A). The frequency of this SNP is similar in both Singapore and Malaysia, with 0.6% Indian and 0% in Malay and Chinese. In comparison to our regional background populations, this SNP represents a phylogenetic branch occurring after the primary J2e1 Yp11.2 deletion event, with an age of about 10.7 +/- 5.2 kyears. Interestingly, we also noted a more recent J2e1 null sub-branch which has self-declared Malay ethnicity, with an estimated age of 3.6 +/- 1.5 kyears, reXecting the social history in our region."
Rita Y. Y. Yong et al. - Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations // Hum Genet (2007) 122:237–249 // DOI 10.1007/s00439-007-0389-0
Indian M102
Among the Austro-Asiatic tribals, the predominant J2b2 HG occurs only in the Lodha. J2 is present in significantly higher (.001) frequency among Dravidian castes (19%) than among Indo-European castes (11%). In Pakistan, the frequency (12%) is similar to that among Indian Indo-European castes, but this clade is nearly absent (1%) in East Asia.
The sister clade to J2a-M410 is J2b-M12. In India and Pakistan, all J2b members comprise the J2b2-M241 derivative HG. Notable is the high frequency (in 39 of 42 Indian and Pakistani samples only) of a 7-repeat motif at the A7.2 microsatellite locus, in contrast to the 8-repeat motif in Europe.
Lastly, HG J2b2-M241 related microsatellite variance is higher in Uttar Pradesh near the border of Nepal. It should be noted that numerous Mesolithic sites have been observed in this region (Kennedy 2000).
The mean variance for J2b2-M241 chromosomes is highest in southwestern Asia (0.33), in contrast with Turkey (0.24) (Cinnioglu et al. 2004) and the Balkans (!0.2) (Pericic et al. 2005). Further, the mean expansion time of J2b2 in India is 13.8 KYA (table 11), clearly earlier than the appearance of agriculture. Perhaps the three J2b2 chromosomes with eight or more repeats for A7.2 are reflective of morerecent agriculturalists.
Sanghamitra Sengupta et al. - Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists // The American Journal of Human Genetics Volume 78 February 2006