Tyrolean DNA admixture and genetic structure

Interesting information for genetic genealogy and populations genetics of human DNA from the historical Tyrol region (South Tyrol, North Tyrol, East Tyrol, Trentino) and bordering regions of Central Europe: Austria (Vorarlberg, Salzburg, Carinthia/Kärnten, Upper Austria/Oberösterreich, Styria/Steiermark), North Italy (Veneto, Friuli-Venezia Giulia, Lombardy, Piemonte, Aosta, Emilia-Romagna, Tuscany), Switzerland (Graubünden/Grisons, St. Gallen), South Germany (Bavaria, Baden-Württemberg), Slovenia, Croatia, East/Alpine France (Alsace, Franche-Comté, Lorraine, Rhône-Alpes), Czechia, Slovakia, Hungary, Serbia, Romania.

Autosomal and complete genome

admixture example

Publications:

• South Tyrolean Isolated Populations Y-DNA (UEP), mtDNA, and 8 Alu Polymorphisms, Pichler, Mueller, Stefanov et al. 2006 (277 samples)
  Y-DNA Puster Valley (n=35) P* (xR1a) 47%, BR* (xDE, JR) 34%, E* (xE3a) 9%, R1a* 6%, L 3%, Y* (xBR, A3b2) 3%
  Y-DNA Eisack Valley (n=34) P* (xR1a) 46%, BR* (xDE, JR) 29%, R1a* 15%, E* (xE3a) 3%, K* (xL, N3, O2b, P) 3%, E3a 3%
  Y-DNA Badiot Valley (n=24) P* (xR1a) 58%, BR* (xDE, JR) 21%, R1a* 13%, L 8%
  Y-DNA Lower Vinschgau (n=32) P* (xR1a) 47%, BR* (xDE, JR), R1a1 13%, E* (xE3a) 3%, K* (xL, N3, O2b, P) 3%
  Y-DNA Upper Vinschgau (n=32) P* (xR1a) 56%, BR* (xDE, JR) 31%, E* (xE3a) 9%, R1a1 3%
  Y-DNA Stilfs (n=37) P* (xR1a) 35%, BR* (xDE, JR) 32%, E* (xE3a) 14%, K* (xL, N3, O2b, P) 14%, R1a1 3%, E3a 3%
  Y-DNA South Tyrol (n=194) P* (xR1a) 47%, BR* (xDE, JR) 31%, E* (xE3a) 7%, R1a* 5%, K* (xL, N3, O2b, P) 4%, R1a1 3%, L 2%, E3a 1%, Y* (xBR, A3b2) 1%
• South Tyrol three microisolates (MICROS) Genetic study, Pattaro et al. 2007 (1175 participants)
• South Tyrol Isolates Value for Genetic Dissection of Complex Diseases, Marroni, Pichler et al. 2006 (403 males)

Y-DNA and mtDNA

• South Tyrol isolates mtDNA Y-DNA - Ladin communities, Thomas et al. 2007 (263 men, 56 LVB, 46 LVG, 52 GVL, 50 GVU, 59 ITA)
  LV (Ladin, n=102, LVB Badiot n=56, LVG Gherdëin n=46): ~R1b 65%, ~G+I 13%, J 12% (LVB 5%, LVG 20%), L 6% (LVB 9%, LVG 2%), ~E 3%, R1a 2% (LVB 0%, LVG 4%)
  GV (Vinschgau German, n=102, GVL Latsch n=52, GVU Laas/Prad n=50): ~R1b 42%, ~G+I 25%, J 14%, R1a 9% (GVL 12%, GVU 6%), ~E 8% (GVL 6%, GVU 10%), L 2%
  ITA (Ital.speakers BZ, n=59): ~R1b 37%, ~G+I 25%, J 15%, ~E 12%, ~K*(S?) 5%, R1a 3%, L 2%

Y-DNA (Y-Chromosome, Paternal Line)

presumed main Tyrolean (Tirol, Südtirol, Trentino) Y-DNA Haplogroups (estimation):

• R1b-L23/S141
  • R1b-L51/M412/S167
    • R1b-U106/S21
      • R1b-Z381
        • R1b-Z301
          • R1b-L48/S162
    • R1b-P312/S116
      • R1b-U152/S28
        • R1b-L2/S139
          • R1b-Z367
            • R1b-L20/S144
        • R1b-Z36
        • R1b-Z56
      • R1b-L21/M529/S145
      • R1b-DF27/S250

• I-M170-P38-U179
  • I1-M253
    • I1-M227
    • I1-L22/S142
    • I1-Z58/S244
      • I1-Z59/S246
    • I1-Z63/S243
  • I2-M223

• R1a-M17/M198 1 2
  • R1a-Z283/S339
    • R1a-M458
    • R1a-Z280/S466

• G2a-P15
• J-M304
  • J2a-Mxxx
  • J2b-xxx
• E1b-M78
• L-M317
• T?
• N?
• Q?

Publications

• Tyrolean Alps Y-chromosome Variability, sample evaluation, collection of 3.800 blood samples begins in Jan. 2007, project description, German Project Site: historisch-genetischer Hintergrund Tirol
• East Tyrolean Dissection of Y Chromosome Variation, Niederstätter, Rampl, Erhart, Pitterl, Oberacher et al. 2012 (270 samples, 17 Y-STRs, 27 Y-SNPs)
  R1b-U106/S21 18,9%, I1-M253 15,9%, R1a-M17 14,1%, R1b-U152/S28 12,6%, J-M304 8,9%, G2a-P15 7,4%, R1b-M412/S167* 4,8%, E1b-M78 4,4%, R1b-S116* 3,0%, I2-M223 2,6 %, R1b-L23/S141* 1,9%
• Tyrol Y-SNPs Y-chromosome haplogroup R1b, Niederstätter et al. 2008 (135 individuals)
  R1b-U106/S21 60%, R1b-U152/S28 21%, R1b-U198 2%, R1b* 19%
• Tirol Y-STR typing, Berger, Niederstätter et al. 2005 (135 unrelated men and 70 sons)

Emigrants

• US Hutterite Y-DNA and mtDNA, Pichler et al. 2010 (US S-leut: 90 females, 75 males)
• Slovak Hobans (former Hutterite) Y-DNA, Petrejčíková et al. 2009 (39 males)

Bordering Regions

North Italy

• Microgeographic Y haplotypes Italy, Pelotti et al. 2008 (1288 + 526 samples from “regional” or “local” recruitment)
• haplotypes and haplogroups differences Rimini, Ferri et al. 2008
  98 from Rimini: R1b 51%, J2 17%, E3b1 11%, G 7%, E3b3a 4%, I* 4%, N3 2%
  65 from Valmarecchia: R1b 46%, J2 15%, E3b1 18%, G 11%, I* 3%
• Microgeographic Y variation Ravenna's area, Pelotti et al. 2008 (122 samples - 100% diverse, mainly R1b and E3b1)
• haplotypes in Northeast Italian population, Turrina et al. 2006 (155 Y-STRs)

Italy (incl. Mid)

• Microgeographic Y haplotypes Italy, Pelotti et al. 2008 (1288 + 526 samples from “regional” or “local” recruitment)
• J2 in an Italian sample, Onofri et al. 2008 (Over 200 M172 for 7 Sub SNPs)
• Italian Y-DNA variation, PDF, Capelli et al. 2007 (~700 individuals from 12 different regions)
  Val Badia n=34: R1(xR1a) 68%, K*(xN3,P) 9%, J2 9%, E3b1 6%, I*(xI1b2) 6%, G 3%
• sub-Apennine populations of Central Italy by SNP and STR analysis, Onofri et al. 2007 (17 Y-STR, 37 Y-SNPs in 162 subjects)
• Sardinia isle Y-DNA, Contu 2007 (376 Y from 3 different regions)
• Corsica, Sardinia and Sicily Peopling Y-DNA, Francalacci et al. 2003
• Italy Y-DNA diversity, PDF, Di Giacomo et al. 2003 (890 Y: 524 Italians, 154 continental Greece, 212 Crete + islands)

South Italy

• Sicily Y-DNA Greek & African, Di Gaetano et al. 2008 (236 samples from 9 different areas)

Balkan

• Serbia Paleolithic Y-DNA , Regueiro et al. 2012 (103 samples, 104 Y-SNPs)
• Slovenia: Y-DNA and mtDNA, Manfreda Vakar & Vrečko 2010 (320 Y, 329 mt)
• Y variation in Albanian populations, Ferri et al. 2010 (12 Y-STRs in two major and two minor populations), Dienekes
• Balkans Y-DNA and mtDNA landscape, Bosch et al. 2006 (~400 Y, ~380 mt)
• Bosnia-Herzegovina: Y-DNA, Marjanovic et al. 2005 (90 Croats, 81 Serbs and 85 Bosniacs)
• Slovenia: mtDNA, Zupanic Pajnic et al. 2004 (129 Slovenians)
• Etruscans, Veneti and Slovenians: mtDNA, Škulj 2004 (mt study comparison ancient/modern)
• Bosnians and Slovenians mtDNA, Malyarchuk et al. 2003 (144 + 104 samples)
• Adriatic Island isolate Hvar mtDNA (F), Tolk et al. 2001 (108 samples)

Ancient

• South Eastern Europe historic Illyrians Y-DNA, Sujoldzic 2007 (evaluation of various studies), PDF
• Skeletons from Usedom 12th-13th century Mecklenburg-Vorpommern, Freder 2010 (200 skeletons, Y-DNA 1 E1b1b, 1 R1a1a7, mtDNA 2 H, 2 K), Dissertation (german), PDF, Dienekes Blog
• Ancient Bavaria 7th Century Y-DNA, Vanek et al. 2009 (6 x 24 STR, 4 R1b two sibling, 2 G2a), CMJ Open-access journal, PDF, Dienekes Blog
• Bronze Age Lichtenstein Cave in Germany, Schilz 2006 (DNA 34 skeletons 3000 BPE, estimated presence Y-DNA I1b2*, R1a1, R1b1c), PDF Dissertation (german), d-nb.info, Wikipedia
• Corded Ware Culture burials Eulau Central Germany, Haak et al 2008 (4600 BPE, 13 skeletons, Y-DNA R1a, mtDNA 3 K1b, 2 X2, U5b, I, H, K1a2), PNAS journal (Open-access after 6 months), PDF, Dienekes Blog, Wikipedia german
• Neolithic southwestern France from Treilles, Lacan et al 2011 (5000 BPE, 53 skeletons, Y-DNA 20 G2a, 2 I2a), PNAS journal (Open-access after 6 months), PDF, Dienekes Blog
• Tyrolean Iceman's genome, Keller, Zink et al. 2012 (5275 BPE, Ötzi Y-DNA G2a2b-L91, mtDNA K1, Autosomally nearest to modern Sards), Nature Open-access journal, PDF, Dienekes Blog, Wikipedia
• Neolithic Spain, Lacan et al 2011 (7000 BPE, Y-DNA 5 G2a, 1 E-V13), PNAS journal (Open-access after 6 months), PDF, Dienekes Blog
• Neolithic Linearbandkeramik Derenburg, Haak et al 2010 (7200 BPE, 2 F*(xG,H,I,J,K), 1 G2a3), PLoS open-access journal, PDF, Dienekes Blog

Migration

• Brazilian Y-Chromosome Lineages, Carvalho-Silva et al. 2001, [1]

Europe / Mediterranean

• R1b1b2 Wave-of-Advance Models Y-DNA Europe, Sjödin & François 2011 (two current estimates of mutation rates), Open-access journal, PDF, Dienekes Blog
• R1b founder Y-DNA in Central and Western Europe, Myres et al. 2010 (2043 M269-derived from 118 populations), Open-access journal, PDF, Dienekes Blog
• Levant to Mediterranean Y-DNA frequencies, El-Sibai et al. 2009 (5874 samples, 885 new, 23 countries), Open-access journal, PDF, Dienekes Blog
• Mediterranean Basin Y-DNA variation, Capelli et al. 2005 (hundreds of samples from Sicily, Sardinia, Malta, Cyprus, Lebanese, Tunisia, Djerba Jews), Open-access journal, PDF
• Europe Prehistoric Y-DNA I, Rootsi et al. 2004 (7574 samples from 60 populations), Open-access journal, PDF
• Check for missing papers: Dienekes Ancient Y chromosome studies, Eupedia, Genetic studies on Serbs

see also

South Tyrol (Ötzi’s homeland) historical migrations