The date of origin for haplogroup J-M172 was estimated by Batini et al in 2015 as between 19,000 and 24,000 years before present (BP).[11]Samino et al in 2004 dated the origin of the parent haplogroup,
J-P209, to between 18,900 and 44,500 YBP.[12] Ancient J-M410, specifically subclade J-Y12379*, has been found, in a
mesolithic context, in a tooth from the Kotias Klde Cave in western
Georgia dating 9.529-9.895 cal. BP.[13] This sample has been assigned to the
Caucasus hunter-gatherers (CHG) autosomal component.[14] J-M410, more specifically its subclade J-PF5008, has also been found in a mesolithic sample from the
Hotu and Kamarband Caves located in
Mazandaran Province of
Iran, dating back to 9,100-8,600 B.C.E (approximately 11,000 ybp).[15] Both samples belong to the
Trialetian Culture.
It is likely that J2 men had settled over most of Anatolia, the South Caucasus and the Zagros mountains by the end of the Last Glaciation 12,000 years ago.[16]
Zalloua and Wells 2004 and al-Zaheri 2003 claimed to have uncovered the earliest known migration of J2, expanded possibly from
Anatolia and the
Caucasus.[9][10][17] In 2001, Nebel et al. found that, "According to Underhill et al. (2000), Eu 9 (H58) evolved from Eu 10 (H71) through a T→G
transversion at M172 (emphasis added)," and that in today's populations, Eu 9 (the post-mutation form of M172) is strongest in the
Caucasus,
Asia Minor and the
Levant, whilst Eu 10 becomes stronger and replaces the frequency of Eu 9 as one moves south into the
Arabian Peninsula,[18] so that people from the Caucasus met with Arabs near and between
Mesopotamia (Sumer/Assyria) and the
Negev Desert, as "
Arabisation" spread from Arabia to the Fertile Crescent and Turkey.
Per research by Di Giacomo 2004, J-M172 haplogroup spread into Southern Europe from either the
Levant or
Anatolia, likely parallel to the development of agriculture.[19] As to the timing of its spread into Europe, Di Giacomo points to events which post-date the Neolithic, in particular the demographic floruit associated with the rise of the Ancient Greek world. Semino et al. derived older age estimates for overall J2 (having used the Zhivotovsky method c.f. Di Giacomo), postulating its initial spread with Neolithic farmers from the Near East. However, its subclade distribution, showing localized peaks in the Southern Balkans, southern Italy, north/central Italy and the Caucasus, does not conform to a single 'wave-of-advance' scenario, betraying a number of still poorly understood post-Neolithic processes which created its current pattern. Like Di Giacomo, the Bronze Age southern Balkans was suggested by Semino 2004 to have been an important vector of spread.[12]
Haplogroup J2 is found with low frequencies in North Africa. with a hotspot in Sousse region
Fadhlaoui-Zid 2014
most of
Sousse samples have the same
haplotypes found in Haplogroup J-L271 which was found in
Msaken.
J-M172 is found at moderate frequencies among Central Asian people such as
Uyghurs,
Uzbeks,
Turkmens,
Tajiks,
Kazakhs, and
Yaghnobis. According to the genetic study in Northwest China by Shou et al. (2010), a notable high frequency of J-M172 is observed particularly in Uyghurs 34% and Uzbeks 30.4% in
Xinjiang,
China. Liu Shuhu et al. (2018) found J2a1 (L26/Page55/PF5110/S57, L27/PF5111/S396) in 43.75% (28/64) and J2a2 (L581/S398) in 14.06% (9/64) of a sample of Lop Uyghurs from Qarchugha Village of Yuli (Lopnur) County, Xinjiang, J2a1b1 (M92, M260/Page14) in 25.64% (10/39) of a sample of Keriyan Uyghurs from Darya Boyi Village of Yutian (Keriya) County, Xinjiang, and J2a1 (L26/Page55/PF5110/S57, L27/PF5111/S396) in 3.95% (3/76) and J2a2 (L581/S398) in 3.95% (3/76) of a sample of Dolan Uyghurs from Horiqol Township of Awat County, Xinjiang.[21] Only far northwestern ethnic minorities had haplogroup J in Xinjiang, China. Uzbeks in the sample had 30.4% J2-M172 and
Tajiks of Xinjiang and Uyghurs also had it.[22]
The haplogroup has an ancient presence in Central Asia and seems to have preceded the spread of Islam (
Shou 2010). In addition, the immediate ancestor of J-M172, namely
J* (J-M304*, a.k.a. J-P209*, J-12f2.1*) is also found among
Xibo,
Kazakh,
Dongxiang and
Uzbek people in Northwest China.
In 2015, two ancient samples belonging to J-M172 or J-M410 (J2a) were found at two different
archaeological sites in
Altai, eastern
Russia: Kytmanovo and Sary-bel kurgan. Both of the ancient samples are related to
Iron Age cultures in Altai. Sary-bel J2/J2a is dated to 50 BC whereas Kytmanovo sample is dated to 721-889 AD. Genetic admixture analysis of these samples also suggests that the individuals were more closely related to
West Eurasians than other
Altaians from the same period, although they also seem to be related to present-day
Turkic peoples of the region.[23][24][25]
In
Europe, the frequency of Haplogroup J-M172 drops as one moves northward away from the
Mediterranean. In
Italy, J-M172 is found with regional frequencies ranging between 9% and 36% (
Capelli 2007). In
Greece, it is found with regional frequencies ranging between 10% and 48%. Approximately 24% of Turkish men are J-M172 according to a recent study, (
Cinnioglu 2004) with regional frequencies ranging between 13% and 40% (
Semino 2000). Combined with
J-M267, up to half of the Turkish population belongs to
Haplogroup J-P209.
It has been proposed that haplogroup subclade J-M410 was linked to populations on ancient Crete by examining the relationship between
Anatolian,
Cretan, and
Greek populations from around early Neolithic sites in Crete. Haplogroup J-M172 was associated with
NeolithicGreece (ca. 8500 - 4300 BCE) and was reported to be found in modern Crete (3.1%) and mainland Greece (
Macedonia 7.0%,
Thessaly 8.8%,
Argolis 1.8%) (
King 2008).
Sephardi Jews have about 15% (
Nebel 2001)-29% (
Semino 2004), of haplogroup J-M172, and Ashkenazi Jews have 15% (
Shen 2004)-23% (
Semino 2004). It was reported in an early study which tested only four STR markers (
Malaspina 2001) that a small sample of Italian
Cohens belonged to Network 1.2, an early designation for the overall clade now known as J-L26, defined by the deletion at DYS413. However, a large number of all Jewish Cohens in the world belong to haplogroup J-M267 (see
Cohen modal haplotype).
Haplogroup J-M172 has been shown to have a more northern distribution in the Middle East, although it exists in significant amounts in the southern middle-east regions, a lesser amount of it was found when compared to its brother haplogroup, J-M267, which has a high frequency southerly distribution. It was believed that the source population of J-M172 originated from the Levant/Syria (Syrid-J-M172), and that its occurrence among modern populations of Europe, Central Asia, and South Asia was a sign of the neolithic agriculturalists. However, as stated it is now believed more likely to have been spread in waves, as a result of post-Neolithic processes .
South Asia
Haplogroup J2 has been present in
South Asia mostly as J2a-M410 and J2b-M102, since neolithic times (9500 YBP).[28][29]
J2-M172 was found to be significantly higher among
Dravidian castes at 19% than among
Indo-Aryan castes at 11%. J2-M172 and J-M410 is found 21% among
Dravidian middle castes, followed by upper castes, 18.6%, and lower castes 14%.[30] Among caste groups, the highest frequency of J2-M172 was observed among Tamil
Vellalars of South India, at 38.7%.[30] J2 is present in Indian tribals too and has a frequency of 11% in Austro-Asiatic tribals. Among the Austro-Asiatic tribals, the predominant
J2 occurs in the
Asur tribe (77.5%) albeit with a sample size of 40[28] and in the
Lodha (35%) of
West Bengal.[30] J2 is also present in the South Indian
hill tribeToda at 38.46% albeit with a sample size of only 26,[31] in the
Andh tribe of
Telangana at 35.19%,[32] in the
Narikuravar tribe at 57.9%[28] and in the
Kol tribe of
Uttar Pradesh at a frequency of 33.34%.[33] Haplogroup J-P209 was found to be more common in India's
Shia Muslims, of which 28.7% belong to haplogroup J, with 13.7% in J-M410, 10.6% in J-M267 and 4.4% in J2b (
Eaaswarkhanth 2009).
J2-M172 is found at an overall frequency of 16.1% in the people of
Sri Lanka.[36] In Maldives, 22% of Maldivian population were found to be haplogroup J2 positive.[37] Subclades of M172 such as M67 and M92 were not found in either Indian or Pakistani samples which also might hint at a partial common origin.[30]
Haplogroup J-M172 is subdivided into two complementary sub-haplogroups: J-M410, defined by the M410genetic marker, and J-M12, defined by the M12 genetic marker.
J-M67 (called J2f in older papers) has its highest frequencies associated with
Nakh peoples. Found at very high (majority) frequencies among Ingush in Malgobek (87.4%), Chechens in Dagestan (58%), Chechens in Chechnya (56.8%) and Chechens in Malgobek, Ingushetia (50.9%) (
Balanovsky 2011). In the Caucasus, it is found at significant frequencies among Georgians (13.3%) (
Semino 2004), Iron Ossetes (11.3%), South Caucasian Balkars (6.3%) (
Semino 2004), Digor Ossetes (5.5%), Abkhaz (6.9%), and Cherkess (5.6%) (
Balanovsky 2011). It is also found at notable frequencies in the Mediterranean and Middle East, including Cretans (10.2%), North-central Italians (9.6%), Southern Italians (4.2%; only 0.8% among N. Italians), Anatolian Turks (2.7-5.4%), Greeks (4-4.3%), Albanians (3.6%), Ashkenazi Jews (4.9%), Sephardis (2.4%), Catalans (3.9%), Andalusians (3.2%), Calabrians (3.3%), Albanian Calabrians (8.9%) (see
Di Giacomo 2004 and
Semino 2004).
J-M92/M260, a subclade of J-M67, has been observed in 25.64% (10/39) of a sample of Keriyan Uyghurs from Darya Boyi Village of Yutian (Keriya) County, Xinjiang.[21] This Uyghur village is located in a remote oasis in the
Taklamakan Desert.
In Y-chromosome phylogenetics,
subclades are the branches of haplogroups. These subclades are also defined by single nucleotide polymorphisms (SNPs) or unique event polymorphisms (UEPs).
Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.
There are several confirmed and proposed phylogenetic trees available for haplogroup J-M172. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in
Houston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.[Phylogenetics 3][42]
The Genomic Research Center draft tree
This is Thomas Krahn at the Genomic Research Center's draft tree
Proposed Tree for haplogroup J-M172 (
Krahn & FTDNA 2013). For brevity, only the first three levels of subclades are shown.
M172, L228
M410, L152, L212, L505, L532, L559
PF5008
Y182822
L581
Z37823
PF4610
Z6046
L26
M12, M102, M221, M314, L282
M205
M241
M99
M280
M321
P84
L283
The Y-Chromosome Consortium tree
This is the official scientific tree produced by the Y-Chromosome Consortium (YCC). The last major update was in 2008 (
Karafet 2008). Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.[43]
This section needs expansion. You can help by
adding to it. (January 2013)
The ISOGG tree
Below are the
subclades of Haplogroup J-M172 with their defining mutation, according to
the ISOGG tree (as of January 2020). Note that the descent-based identifiers may be subject to change, as new SNPs are discovered that augment and further refine the tree. For brevity, only the first three levels of subclades are shown.
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91.
doi:
10.1002/humu.22468.
PMID24166809.
S2CID23291764.
^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.;
YFull YTree v5.08, 2017, "K-M2335", and;
PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
^The extent of differentiation of Hg J, observed both with the biallelic and microsatellite markers, points to the Middle East as its likely homeland. In this area, J-M172 and J-M267 are equally represented and show the highest degree of internal variation, indicating that it is most likely that these subclades also arose in the Middle East. (
Di Giacomo 2004)
^Al-Zahery, N. (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics and Evolution. 28 (3): 458–72.
doi:
10.1016/s1055-7903(03)00039-3.
PMID12927131.
^Di Giacomo F, Luca F, Popa LO, Akar N, Anagnou N, Banyko J, et al. (2004). "Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe". Human Genetics. 115 (5): 357–71.
doi:
10.1007/s00439-004-1168-9.
PMID15322918.
S2CID18482536.
^F. Immanuel, Codes for Gedmatch Results,
Ancient DNA pageArchived 2015-09-05 at the
Wayback Machine, F999962 for RISE504, Kytmanovo sample, and F999965 for RISE602, Sary-bel sample.
^
abcGyaneshwer Chaubey, Manvendra Singh, Federica Crivellaro, et al., "Unravelling the distinct strains of Tharu ancestry." European Journal of Human Genetics (2014), 1–9. doi:10.1038/ejhg.2014.36
^Simona Fornarino, Maria Pala, Vincenza Battaglia, et al., "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation." BMC Evolutionary Biology 2009, 9:154. doi:10.1186/1471-2148-9-154
^"Y-DNA Haplotree".
Archived from the original on 2013-01-27. Retrieved 2013-01-05. Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.
Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008), "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree", Genome Research, 18 (5): 830–8,
doi:
10.1101/gr.7172008,
PMC2336805,
PMID18385274
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361.
doi:
10.1038/81685.
PMID11062480.
S2CID12893406.
Notes
^ Renfrew AC (1998). Archaeology and language: the puzzle of Indo-European origins (Pimlico ed.). London: Pimlico.
ISBN978-0-7126-6612-1.
Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti AS (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics and Evolution. 28 (3): 458–72.
doi:
10.1016/S1055-7903(03)00039-3.
PMID12927131.
Behar, Doron M.; Garrigan, Daniel; Kaplan, Matthew E.; Mobasher, Zahra; Rosengarten, Dror; Karafet, Tatiana M.; Quintana-Murci, Lluis; Ostrer, Harry; Skorecki, Karl; Hammer, Michael F. (1 March 2004). "Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations". Human Genetics. 114 (4): 354–365.
doi:
10.1007/s00439-003-1073-7.
PMID14740294.
S2CID10310338.
Capelli C, Brisighelli F, Scarnicci F, Arredi B, Caglia' A, Vetrugno G, et al. (2007). "Y chromosome genetic variation in the Italian peninsula is clinal and supports an admixture model for the Mesolithic–Neolithic encounter". Molecular Phylogenetics and Evolution. 44 (1): 228–39.
doi:
10.1016/j.ympev.2006.11.030.
PMID17275346.
Cinnioğlu C, King R, Kivisild T, Kalfoğlu E, Atasoy S, Cavalleri GL, et al. (2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127–48.
doi:
10.1007/s00439-003-1031-4.
PMID14586639.
S2CID10763736.
Di Giacomo F, Luca F, Anagnou N, Ciavarella G, Corbo RM, Cresta M, Cucci F, Di Stasi L, Agostiano V, Giparaki M, Loutradis A, Mammi' C, Michalodimitrakis EN, Papola F, Pedicini G, Plata E, Terrenato L, Tofanelli S, Malaspina P, Novelletto A (2003). "Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects". Molecular Phylogenetics and Evolution. 28 (3): 387–95.
doi:
10.1016/S1055-7903(03)00016-2.
PMID12927125.
Di Giacomo F, Luca F, Popa LO, Akar N, Anagnou N, Banyko J, et al. (2004). "Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe". Human Genetics. 115 (5): 357–71.
doi:
10.1007/s00439-004-1168-9.
PMID15322918.
S2CID18482536.
King R, Underhill PA (2002). "Congruent distribution of Neolithic painted pottery and ceramic figurines with Y-chromosome lineages". Antiquity. 76 (293): 707–714.
doi:
10.1017/s0003598x00091158.
S2CID160359661.
King RJ, Ozcan SS, Carter T, Kalfoğlu E, Atasoy S, Triantaphyllidis C, et al. (2008). "Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic". Annals of Human Genetics. 72 (2): 205–14.
doi:
10.1111/j.1469-1809.2007.00414.x.
PMID18269686.
S2CID22406638.
Malaspina P, Tsopanomichalou M, Duman T, Stefan M, Silvestri A, Rinaldi B, et al. (2001). "A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area". Annals of Human Genetics. 65 (4): 339–49.
doi:
10.1046/j.1469-1809.2001.6540339.x.
hdl:2108/44448.
PMID11592923.
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Nasidze I, Sarkisian T, Kerimov A, Stoneking M (2003). "Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome". Human Genetics. 112 (3): 255–61.
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10.1007/s00439-002-0874-4.
PMID12596050.
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Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration". Human Heredity. 61 (3): 132–43.
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10.1159/000093774.
PMID16770078.
S2CID7017701.
Robino, C.; Crobu, F.; Di Gaetano, C.; Bekada, A.; Benhamamouch, S.; Cerutti, N.; Piazza, A.; Inturri, S.; Torre, C. (2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". International Journal of Legal Medicine. 122 (3): 251–255.
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10.1007/s00414-007-0203-5.
PMID17909833.
S2CID11556974.
Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, et al. (2000). "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective". Science. 290 (5494): 1155–9.
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2000Sci...290.1155S.
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PMID11073453.
Shen P, Lavi T, Kivisild T, Chou V, Sengun D, Gefel D, et al. (2004). "Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation". Human Mutation. 24 (3): 248–60.
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Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–61.
doi:
10.1038/81685.
PMID11062480.
S2CID12893406.
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91.
doi:
10.1002/humu.22468.
PMID24166809.
S2CID23291764.
^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.;
YFull YTree v5.08, 2017, "K-M2335", and;
PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
Phylogenetic notes
^This table shows the historic names for J-M172 in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 2001 24 is a subclade of 23.
YCC 2002/2008 (Shorthand)
J-M172
Jobling and Tyler-Smith 2000
9
Underhill 2000
VI
Hammer 2001
Med
Karafet 2001
24
Semino 2000
Eu9
Su 1999
H4
Capelli 2001
B
YCC 2002 (Longhand)
J2*
YCC 2005 (Longhand)
J2
YCC 2008 (Longhand)
J2
YCC 2010r (Longhand)
J2
^This table shows the historic names for J-P209 (AKA J-12f2.1 or J-M304) in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 2001 24 is a subclade of 23.