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Friday, June 12, 2015

Dodecad K12b values of Bronze Age individuals living in Armenia

A new paper in Nature (Allentoft et al., 2015) presenting the genomes of ancient 101 Eurasians is currently fascinating geneticists but also linguists and historians. Some of these tested Bronze Age individuals lived in nowadays Armenia.

Here, I want to use their Dodecad K12b values (shared by Mfa from Corduene.blogspot.com) to calculate the closest reference populations for these individuals. Most of the tested individuals from Armenia can be resembled the best as 50-75% Iranian (including Kurds) or Lezgin and 25-50% European. In most cases, Kurds and especially Zaza are among the Top10 reference populations for these ancient genomes, see data below.

In terms of genetic composition the Southern Caucasus was more Iranian-like and European-like than it is today. The shift from Bronze Age to now could be explained by several Semitic empires and three Semitic religions (Judaism, Christianity and Islam) that expanded from South to North and probably impacted local populations of the Northern Middle East. 

 Interestingly, when traveling through Kurdistan a phenotypic gradient can be seen depending on the altitude: populations from hidden villages in the higher Mountains appear to have lighter skin (and lighter eye color) than the populations from towns in the valleys. Kurds also claim that in ancient times their people were more fair-skinned than they are today.

I believe the same (more Iranian-like and European-like than it is today) will be seen for genomes from Kurdistan. I also believe that the European-like character South of the Caucasus was introduced before the Neolithic expansion, hopefully, ancient DNA will prove this one day. As I mentioned earlier I believe that R1a and R1b originated in or near Kurdistan; two of the Bronze Age samples from Armenia are R1b (RISE397 and RISE413).


RISE413 MBA (1906 BC): 
TOP reference populations based on Dodecad K12b:

1 19.6 Turkmens_Y
2 20.2 Turkish_Aydin_Ho
3 20.7 Zaza_P
4 21.0 Turkish_Istanbul_Ho
5 21.3 Turkish_Kayseri_Ho
6 21.4 Tajiks_Y
7 21.7 Iranians
8 21.9 Iranian_D
9 22.1 Kurd_D
10 22.5 Kurds_Y

Oracle K12B:

# Distance
1 7.2639 69.1% Iranians + 30.9% Orcadian
2 7.2701 69.2% Iranians + 30.8% Orkney_1KG
3 7.2770 69% Iranians + 31% Irish_D
4 7.3007 68% Iranians + 32% CEU30
5 7.3294 68.1% Iranians + 31.9% English_D
6 7.3327 67.9% Kurd_D___ + 32.1% Argyll_1KG
7 7.3436 66.4% Iranians + 33.6% Mixed_Germanic_D
8 7.3579 68.4% Iranians + 31.6% Cornwall_1KG
9 7.3697 67.9% Iranians + 32.1% Kent_1KG
10 7.4109 68.1% Iranian_D + 31.9% Argyll_1KG

RISE416 MBA (1643 BC):

1    16.8    O_Italian_D
2    18.4    TSI30
3    18.5    N_Italian_D
4    18.9    Tuscan
5    19.3    C_Italian_D
6    20.5    North_Italian
7    22.7    S_Italian_Sicilian_D
8    23.2    Greek_D
9    23.4    Sicilian_D
10    24.7    Baleares_1KG

Oracle K12B:

#    Distance   
1    7.2386    75.3% N_Italian_D + 24.7% Balochi
2    7.4475    74.6% N_Italian_D + 25.4% Makrani
3    7.6021    77% N_Italian_D + 23% Brahui
4    7.6188    77% TSI30 + 23% Brahui
5    7.6521    52.4% Lezgins__ + 47.6% Pais_Vasco_1KG
6    7.6804    55% Kurds_Y___ + 45% Pais_Vasco_1KG
7    7.6909    73.3% North_Italian + 26.7% Balochi
8    7.8920    75.5% TSI30 + 24.5% Balochi
9    7.9160    55.2% Iranian_D + 44.8% Pais_Vasco_1KG
10    7.9334    72.6% North_Italian + 27.4% Makrani


RISE423 MBA (1402 BC):
1    14.8    Kumyks_Y
2    15.5    Turkish_Istanbul_Ho
3    16.1    Lezgins__
4    16.5    Turkish_Aydin_Ho
5    16.8    Turkish_Kayseri_Ho
6    16.9    Zaza_P___
7    18.5    Turks___
8    18.9    Turkish_D
9    19.0    Kurds_Y___
10    19.1    Chechens_Y

Oracle K12B:
#    Distance   
1    4.6697    73.6% Kurds_Y___ + 26.4% Belorussian
2    4.6825    72.5% Kurds_Y___ + 27.5% Mixed_Slav_D
3    4.7566    72.7% Kurds_Y___ + 27.3% Polish_D
4    4.7988    71.3% Kurds_Y___ + 28.7% Ukranians_Y
5    4.8007    73.2% Kurds_Y___ + 26.8% Russian_D
6    4.9732    75.6% Kurds_Y___ + 24.4% Lithuanian_D
7    4.9897    73.2% Kurd_D___ + 26.8% Belorussian
8    5.0133    76.7% Kurds_Y___ + 23.3% Lithuanians
9    5.0365    70.9% Kurd_D___ + 29.1% Ukranians_Y
10    5.0987    72.1% Kurds_Y___ + 27.9% Mordovians_Y

RISE408 LBA (1209 BC):
 TOP reference populations based on Dodecad K12b:
# Distance ID
1    18.0    Lezgins__
2    19.3    Kumyks_Y
3    21.4    Turkish_Istanbul_Ho
4    21.5    Turkish_Aydin_Ho
5    22.0    Chechens_Y
6    22.6    Turkish_Kayseri_Ho
7    22.7    Turkmens_Y
8    23.0    Zaza_P___
9    24.0    Tajiks_Y
10    24.3    Iranian_D

Oracle:

# Distance

1    4.7378    79.2% Lezgins__ + 20.8% French_Basque
2    5.2651    72.7% Lezgins__ + 27.3% Cataluna_1KG
3    5.5218    73.7% Lezgins__ + 26.3% Valencia_1KG
4    5.5712    73.9% Lezgins__ + 26.1% Cantabria_1KG
5    5.5818    74.3% Lezgins__ + 25.7% Aragon_1KG
6    5.6722    73.8% Lezgins__ + 26.2% Castilla_La_Mancha_1KG
7    5.6816    73.3% Lezgins__ + 26.7% Spanish_D
8    5.7200    73% Lezgins__ + 27% Spaniards
9    5.8826    71.1% Lezgins__ + 28.9% French
10    5.9217    71.1% Lezgins__ + 28.9% French_D


RISE412 LBA (1193 BC):
 TOP reference populations based on Dodecad K12b:
# Distance ID1    9.6    Adygei
2    11.2    Balkars_Y
3    11.7    Kumyks_Y
4    11.8    North_Ossetians_Y
5    13.1    Chechens_Y
6    13.2    Turks___
7    13.2    Turkish_D
8    14.1    Armenians
9    14.7    Turkish_Istanbul_Ho
10    15.8    Armenians_15_Y
11    16.2    Armenian_D
12    16.4    Turkish_Kayseri_Ho
13    17.5    Lezgins__
14    18.3    Abhkasians_Y
15    18.5    Georgia_Jews
16    18.7    Zaza_P___

Oracle K12B:

#    Distance   
1    3.6433    77.2% Adygei + 22.8% Sephardic_Jews
2    4.0513    77.5% Adygei + 22.5% S_Italian_Sicilian_D
3    4.0932    76.4% Adygei + 23.6% Ashkenazi_D
4    4.1480    75.4% Adygei + 24.6% Ashkenazy_Jews
5    4.2166    77.9% Adygei + 22.1% Sicilian_D
6    4.2440    80% Adygei + 20% Morocco_Jews
7    4.3430    64.7% Chechens_Y + 35.3% Cypriots
8    4.6281    60.3% Adygei + 39.7% Turkish_D
9    4.8258    75% Adygei + 25% Druze
10    4.9047    75.9% Adygei + 24.1% Lebanese
11    4.9790    84.3% Armenians + 15.7% Lithuanians
12    5.0526    77.3% Adygei + 22.7% Greek_D
13    5.0618    64.2% Abhkasians_Y + 35.8% Bulgarian_D
14    5.0744    82% Armenians + 18% Russian_B
15    5.0939    83.6% Armenians + 16.4% Lithuanian_D
16    5.1290    78.9% Adygei + 21.1% Syrians
17    5.1671    81.7% Armenians + 18.3% Mordovians_Y
18    5.1701    70.9% Balkars_Y + 29.1% Cypriots
19    5.2275    65.7% Abhkasians_Y + 34.3% Romanians
20    5.2709    67.1% Adygei + 32.9% Turkish_Kayseri_Ho


RISE396 LBA (1192 BC):
 TOP reference populations based on Dodecad K12b:
# Distance ID
 1    12.0    Turkish_Istanbul_Ho
2    12.6    Kumyks_Y
3    13.5    Turkish_Kayseri_Ho
4    14.5    Turkish_Aydin_Ho
5    14.5    Turkish_D
6    14.6    Turks___
7    15.3    Zaza_P___
8    16.1    Lezgins__
9    17.1    Chechens_Y
10    18.1    Kurds_Y___

Oracle K12B:
#    Distance
1    4.2060    58.2% Lezgins__ + 41.8% Greek_D
2    4.4492    61.5% Lezgins__ + 38.5% Sicilian_D
3    4.5387    60.3% Lezgins__ + 39.7% Ashkenazi_D
4    4.7105    63.8% Lezgins__ + 36.2% C_Italian_D
5    4.7696    58.9% Lezgins__ + 41.1% Ashkenazy_Jews
6    5.2481    63.3% Lezgins__ + 36.7% O_Italian_D
7    5.4614    66.2% Lezgins__ + 33.8% Tuscan
8    5.5673    67% Lezgins__ + 33% TSI30
9    5.8915    62.9% Lezgins__ + 37.1% Sephardic_Jews
10    6.0393    58% Kurds_Y___ + 42% Bulgarian_D

RISE407 LBA (1115 BC):
 TOP reference populations based on Dodecad K12b:
# Distance ID
 1    19.1    Lezgins__
2    19.6    Turkmens_Y
3    20.0    Tajiks_Y
4    20.7    Kumyks_Y
5    21.3    Zaza_P___
6    21.6    Turkish_Aydin_Ho
7    21.7    Turkish_Istanbul_Ho
8    22.0    Iranian_D
9    22.5    Kurd_D___
10    22.5    Kurds_Y___

Oracle K12B:
#    Distance
1    9.0414    77.7% Lezgins__ + 22.3% Pais_Vasco_1KG
2    9.1657    70.8% Iranian_D + 29.2% Norwegian_D
3    9.4091    70.2% Kurd_D___ + 29.8% Swedish_D
4    9.4630    79.2% Lezgins__ + 20.8% French_Basque
5    9.5599    70.4% Kurd_D___ + 29.6% Norwegian_D
6    9.6359    70.1% Kurds_Y___ + 29.9% Swedish_D
7    9.6374    71.4% Lezgins__ + 28.6% Portuguese_D
8    9.6513    72.7% Lezgins__ + 27.3% Cataluna_1KG
9    9.6726    71.2% Lezgins__ + 28.8% Extremadura_1KG
10    9.6800    73.6% Lezgins__ + 26.4% Castilla_La_Mancha_1KG


Tuesday, February 24, 2015

Lactose intolerance: Six MCM6 variants in the Kurdish gene pool / Why 22018A is strongly, but not completely related to lactase persistence

In a previous post I discussed the possibility of unknown MCM6 haplotypes in Middle Eastern populations that could lead to lactose tolerance. I wrote:
Not all lactose tolerance SNPs are known, several SNPs resulting in lactose tolerance still need to be discovered.

Today, I want to present 6 haplotypes (ht1-6) I could discover in the Kurdish gene pool.

ht3 represents the "European" haplotype which correlates with lactose tolerance. Individuals with "CT" or "TT" at rs4988235 (also called C/T-13910) are genetically lactose tolerant; at 23andme it is "AG" or "AA" (because MCM6 gene is in minus orientation but 23andme does not address it).
Interestingly, 13910T (rs4988235: "A" at 23andme) and 22018A (rs182549: "T" at 23andme) are strongly linked with one another, at least for ht3, the "European" haplotype. However, this is not always the case. There is some literature about 22018A, see here, here, here, and here.
ht3 itself is derived from ht2, which only carries the 22018A mutation. ht2 is fairly rare and does not provide lactase persistence which explains why 22018A is strongly, but not completely related to lactase persistence. 
The origin of the "European" lactose persistence 13910T (rs4988235: "A" at 23andme) can be found in populations where the frequency of 22018A (ht2 + ht3) is higher than 13910T (ht3).  

In Kurds (N=20) the frequency of 22018A is 8% (ht2 + ht3), the frequency of 13910T is 5% (ht3). Both, ht2 and ht3 are derived from ht1, which has a frequency of 20% among Kurds.

Raz et al., 2013 found that Iraqi Jews (N=96) have a frequency 8.3% for 22018A (ht2 + ht3) and 3.6% for 13910T (ht3), which fits quite well with the Kurdish results.

Find below the frequency of the six MCM6 haplotypes in the Kurdish gene pool:


ht1 ht2 ht3 ht4 ht5 ht6
20% 3% 5% 15% 10% 48%



Find below the six haplotypes (ht1 - ht6) identified in the Kurdish gene pool (ht7 was identified in the Denisova genome. The coverage of the Neanderthal genome was too low to identify the haplotype.)

SNP ht1 ht2 ht3 ht4 ht5 ht6 ht7
rs4988283 C C C C C C C
rs4988262 C C C C C C T
rs2082730 T T T T T T T
rs4988243 T T T T C T T
rs4954492 A A A A A A A
rs41525747 G G G G G G G
rs4988236 G G G G G G G
rs4988235 G G A G G G G
rs41380347 A A A A A A A
rs4988234 C C C C C C C
rs4988233 G G G G G G G
rs2304369 G G G G G G G
rs4988232 G G G G G G G
rs4988226 G G G A A A A
rs309180 A A A G G G G
rs309181 G G G C C C C
rs3213871 C C C T T C C
rs4988203 C C C C C C T
rs182549 C T T C C C C
rs4988199 A A A A A A A
rs4988189 T T T T T T T
rs4988186 G G G G G G G
rs309176 C C C T T T T
rs3087343 T T T T T G T
rs4988177 T T T T T T T
rs3087353 C C C C C C T
rs2289049 G G G G G G A
rs2070068 G G G G G G A
rs1435577 C C C C C G C
rs3769001 A A A A A G A
rs1057031 G G G G G A A

Find below the phylogenetic tree of MCM6 haplotypes.



Coehlo et al., 2005 predicted that 22018A mutation occured prior to the 13910T mutation.

Bersaglieri et al., 2004 provided the frequency of both 22018A and 13910T in various populations showing that the frequency of 22018A (ht2 + ht3) is higher than 13910T (ht3) in Pakistan (excluding Kalash).
Summary:
ht2 (22018A only) is the ancestor of ht3 (22018A + 13910T). ht2 can be found among Kurds, Iraqi Jews and Pakistanis.

I suspect that lactase persistence is also present among a subgroup of ht6.

Thursday, January 15, 2015

Balaresque et al., 2015 (R1a)

Today, I want to identify R1a1 individuals that have the same STR8 haplotype (DYS393, DYS390, DYS19, DYS391, DYS439, DYS389i, DYS392, DYS389ii) as DS2 and DS15 in the recently published paper of Balaresque et al., 2015. Note that STR data have very limited information.



DS2 (perfect matches):
Dubai92 from Alshamali et al., 2009.
297613    Petr Sergeev Slyadnev, 1697, Oboyanskiy uezd    R-CTS3402 (FTDNA)
230707    Philippe Renouf b 2/8/1730 Jersey    R-Z284 (FTDNA)
349718    Iver Hansen Årholt, 1771, Stokke, VFL    R-M512 (FTDNA)
M6619        R-Z93 (FTDNA)
243297        R-L657 (FTDNA)
163435    sayak 14с., kyrgyz    R-M173 (FTDNA)
245562        R-M173 (probably Kyrgyz) (FTDNA)
220512        R-M173 (probably Kyrgyz) (FTDNA)
220490        R-M173 (probably Kyrgyz) (FTDNA)
220481        R-M173 (probably Kyrgyz) (FTDNA)
245558        R-M173 (probably Kyrgyz) (FTDNA)
249622     saribaghish (kyrgyz), KG    R-M512 (FTDNA)
71094      Samuel Duncan, d.1679/80 MA    R-M17 (FTDNA)

DS15 (perfect matches):
Qandahar/South Afghanistan (Sample Afg83)  R1a1a* M198 from Lacau et al., 2012
Filipino (Sample431) from Hwa et al., 2010
Izeh [Bakhtiari] (Sample235) from Roewer et al., 2009
Nepal (Kathmandu) R1a1*-M17    (Sample NplK19) from Gayden et al., 2011
Nepal (Kathmandu) R1a1*-M17    (Sample NplK31) from Gayden et al., 2011
Nepal (Kathmandu) R1a1*-M17    (Sample NplK40) from Gayden et al., 2011
Nepal (Newar) R1a1*-M17    (Sample NplN67) from Gayden et al., 2011
N89389    Franz Gromann, b. about 1775    R-M512    (FTDNA)
N34838    Stephan Beres    R-M198    (FTDNA)
256915    Mieczyslaw Seroka, Lublin province    R-M417    (FTDNA)
200664    Simon Netke,abt 1686 -1735    R-M512    (FTDNA)
N47039    Otto Julius Madsen 1896    R-M417    (FTDNA)
264572    Franciscus Zloklikovits,b 1790 Eisenhuttl, Hungary    R-CTS3402    (FTDNA)
127728    Andras Dutzman b. 1855 Levart Gemerska Slovakia    R-M512    (FTDNA)
131773    Thomas Madon, Illinois? 1941?    R-M512    (FTDNA)
N50210    Edmund Trawicki, geb. 1893, Legbad, Pomerania    R-F2686    (FTDNA)
E13973    R-M512    (FTDNA)
191976    Mikita Kapustin, b. 1587, Novosil, Russia    R-M417    (FTDNA)
257106    Lauri Heikinpoika Häyrinen, b. 1600, Joroinen    R-M512    (FTDNA)
188784    Venedikt Vorotyntsev, b.ab.1660, N.Devitsa, Russia    R-CTS456    (FTDNA)
283752    Yakim Loboda 1700 - 1750    R-M512    (FTDNA)
313105    Rönn    R-Z92    (FTDNA)
201068    Porfyriy Skvortsov, ?-ca.1920, Radalivka, Ukraine    R-Z92    (FTDNA)
140423    Olaf Andersson 1676-1759 Hemsjö Alingsås (O)    R-M512    (FTDNA)
N23825    Jurgen Kolbe, b.c.1675, Angermunde, Brandenburg,Pr    R-Z284    (FTDNA)
283402    Kete — Aidar — Azhibai — Seyit — Alseyit    R-M512    (FTDNA)
283403    Kete — Aidar — Azhibai — Seyit — Alseyit    R-M512    (FTDNA)
274445    Kete — Aidar — Azhibai — Seyit — Omar    R-Z93    (FTDNA)
274482    Kete — Aidar — Azhibai — Seyit — Alkerey    R-M512    (FTDNA)
192072    Adamyan, Aintab, Turkey    R-Z93    (FTDNA)
N94836    Mr. İlyas Çiloğlu    R-Z94    (FTDNA)
322561    Venkayya, b. 1830    R-M512    (FTDNA) 235474        R-M512    (FTDNA)
235471    R-M512    (FTDNA)
M8466     R-CTS3402    (FTDNA) M8458        R-PAGES00007    (FTDNA)
186386    need earliest known paternal ancestor info    R-M198    (FTDNA)
245563     R-M512    (FTDNA)
336409    Solto-Tœlœk    R-M512    (FTDNA) 219713    Sayak ~14c    R-M512    (FTDNA)
277359    Malkarov, Balkaria (Chegem→Baskhan)    R-F1345    (FTDNA)
221211     R-M512    (FTDNA) 20409    Gerd Bonorden born about 1500 Bielfel Germany    R-M512    (FTDNA)
295213    John T. Windsor, b. 1839 (IN), d. 1924 (MO)    R-Z94    (FTDNA)
M8568     R-M512    (FTDNA)
N3798     Raghavendra Kamath 1913-1989 Karkal India    R-Z94    (FTDNA)
306446    Aslan Hadji,gf of İ.Akbaev,Chokuna Efendi,Karachay    R-M512    (FTDNA)
237819    Abraham Kennedy, b. 1858, Vilnius; d. U.S./Poland    R-M512    (FTDNA)
255385    Samuel Duncan, b 1619 and d April 1680    R-M512    (FTDNA)
188766     R-M198    (FTDNA) 177329        R-M512    (FTDNA)
N112185  Ayyapankave Ramakrishna Krishmamurthy, b1926, Ayya    R-M512    (FTDNA)
306019    ataul Tiyrnakla, Bayramuk, Karachay    R-M512    (FTDNA)
336372     R-M512    (FTDNA)
N87639    Lemuel Murry,1826 -1909 Milton, Rutherford Co.TN    R-M17    (FTDNA)
120827    Samuel Irvine, 1789, Limavady, County Londonderry    R-M512    (FTDNA)
208262    Fernando Domingo Gutierrez, b. abt 1825    R-M512    (FTDNA)

Edit 01/16.2015:

I started to read the paper. In the supplementary table 3 it provides the number of individuals of each region belonging to a specific DC. I focused on Cinnioglu et al., 2004 data that is included in the supplementary table 3. It claims that in East Anatolia (region 4) 9 out 82 belong to DC2. There are only 9 individuals in region 4, none of them is a perfect match. I realized that only 5 out of 8 STRs need to be identical to belong to DC2 (this is a pretty vague cluster). Using this vague rule I identified more than 800 individuals that are within cluster DC2, a lot of them are not within Z93 and from Europe (Z282+ individuals):
https://docs.google.com/spreadsheets/d/1V5Wumf-nP5NNn1Y57GTxuAw2_cU2XA5pqe4MWzT6Dpo/edit?usp=sharing

Overall, this suggests that data using STR values have very little value, no matter where it is published, especially when it is about vague clusters based on 8 STRs only.

Edit2 01/16.2015:

In the current FTDNA R1a1a and Subclades Y-DNA Project I identified 1792 out of 3418 belonging to DC2 (52.4%).
In the current FTDNA R1a1a and Subclades Y-DNA Project I identified 2668 out of 3418 belonging to DC15 (78.1%).

This highlights that STR values cannot substitute SNPs.