mtDNA Haplogroup K by Kevin Alan Brook

I created and wrote the entries for mtDNA haplogroup K at the Italian Wikipedia on July 31, 2023 and the Spanish Wikipedia on August 14-15, 2023. Below, I'm providing English versions of what I wrote.

Haplogroup K in Italy

A study published in 2005 revealed that haplogroup K is associated among Italians with a lower risk of developing Parkinson's Disease.Marelli et al. 2005

17 percent of the inhabitants of Umbria possess haplogroup K.Modi et al. 2020

Many subclades of haplogroup K have been found in maternal lines that trace back to pre-modern and modern Italy.  The antique (Bronze Age) sample BRC007 from the Grottina dei Covoloni del Broion in northern Italy was initially classified as belonging to haplogroup K1a1b1Saupe et al. 2021 and later more precisely placed into haplogroup K1a1b1h by YFull.K1a1b1h in MTree  The pre-modern sample R33 from the Mausoleum of Augustus in Rome, dating to between 300-700 C.E., had initially been classified as haplogroup K1a,Antonio et al. 2019 and later more precisely placed into haplogroup K1a1f by YFull.K1a1f in MTree

Haplogroup K2a2a1 is shared by such populations as Italians, Spaniards, Portuguese, and Ashkenazi Jews.Brook 2022 pages 76-77

Some haplogroups that are found in Calabria include K1a1d,GenBank sample JX153014 K1a12a,GenBank sample JX153063 and K1a17.GenBank sample JX153028

Haplogroups K1a1f1K1a1f1 in MTree and K1a4aBrook 2022 page 73 are found in the province of Palermo in northern Sicily.

Some haplogroups that are found in Sardinia include K1a2,GenBank sample KY409006 K1a3a,GenBank sample KY409825 K1a3a1,GenBank sample KY410196 K1a4a1a2,GenBank sample KY408152 and K2a9a.GenBank sample KY410181

In the province of Firenze, in the region of Tuscany, one encounters the haplogroup K1a1b2a1a2a.K1a1b2a1a2a in MTree

Other subclades of haplogroup K that exist in modern populations of Italy include K1a1b1e,K1a1b1e in MTree K1a1c1a1a,K1a1c1a1a in MTree K1a2a,GenBank sample EU915473 and K1a19.K1a19 in MTree

Haplogroup K in Spain

The haplogroup K1a1b1 is present in modern SpainBrook 2022 page 69 and it already existed among populations that lived in ancient Spain, both on the Iberian Peninsula and on the Balearic Islands.Brook 2022 page 70  Some of the Chuetas of the Spanish island of Mallorca have the subclade K1a1b1a.Ferragut et al. 2020  They descend from Sephardic Jews.  K1a1b1a is also encountered in modern Jewish populations.  It's typical of Ashkenazi Jews in particular, but it's also occasionally encountered in Turkish Jews, Cochin Jews from India, and Iraqi Jews.Brook 2022 pages 71-72  Some inhabitants of the Canary Islands possess haplogroup K1a1b1c.Brook 2022 page 71, Ian Logan's K1a1b1 page

Haplogroup K1a4a1 is commonplace in modern SpainIan Logan's K1a4 page including among the BasquesGenBank sample MN046537 and on the Balearic Islands.Brook 2022 page 74  Some members of the Bell Beaker Culture in ancient Spain also had K1a4a1.Saenz Ruales 2021, pages 129, 131  People that come from Toledo, Granada, and the Canary Islands are among those who carry haplogroup K1a4a2a1, which has the mutations C16168T, C6134T y A6605G.K1a4a2a1 in MTree  It is also encountered among people from the Mexican state of Nuevo LeónK1a4a2a1 in MTree and among the Ashkenazi Jews.GenBank sample OQ732687

Haplogroup K1a13a can be encountered in Cuenca and Almerí and its subclade K1a13a4 is in Cantabria.K1a13a in MTree

Haplogroup K1b1a is encountered in San Sebastián de La Gomera, a city on the Canary Islands.Fregel et al. 2015  It also exists in the population of CataloniaGenBank sample MZ920564 and its subclade K1b1a1 is in Extremadura.GenBank sample MZ920455, Ian Logan's K1b page  In addition, some of Spain's Basques have K1b1a.GenBank sample MN046434, K1b1a in MTree  K1b1a2 is encountered in Málaga.K1b1a2 in MTree  K1b1b1 is encountered for example in the Murcia region.K1b1b1 in MTree

Some of the Chuetas of Mallorca have the haplogroup K1c.Ferragut et al. 2020  The subclade K1c1 is encountered in Galicia, Salamanca, and Málaga and also in Portugal.K1c1* in MTree  K1c1g is found in Spain, Portugal, and Mexico.K MtDNA Haplotree at Family Tree DNA  K1c1h is found in the province of Burgos.K1c1h* in MTree

Haplogroup K2a2a1 is shared between Ashkenazi Jews and non-Jewish people from Spain, Cuba, and non-Hispanic countries.Brook 2022 page 77  Haplogroup K2a3 is encountered in Andalusia.GenBank sample MZ920531, Ian Logan's K2a page  We find haplogroup K2a8 in Spain.Ian Logan's K2a7-11 page  Its subclade K2a8a is frequently encountered in people from the Mexican state of Nuevo León.K2a8 in MTree, Rendon 2017  Haplogroup K2a15 is found among the Basques of Spain.GenBank sample MN046511, Ian Logan's K2a page

K2b1a1 can be found in the Chuetas of Mallorca.Ferragut et al. 2020  K2b1a1a, which has the mutation C16222T, is found in Galicia.K2b1a1a in MTree  K2b1a6, containing the mutation G16213A, is found in Andalusia (Almería) and Catalonia (Barcelona).K2b1a6 in MTree  K2b1a7, with the mutation C572T, is found for example in Barcelona and Córdoba.K2b1a7 in MTree  The haplogroup K2b1 existed in ancient northwestern SpainRebola1 (MK321343) in AmtDB, Pv517 (MK321345) in AmtDB and the relevant subclade is more precisely called K2b1a.K2b1a in MTree

Haplogroup K in Portugal

Haplogroup K has many varieties that exist among the Portuguese people.  Examples of haplogroups that customers of Family Tree DNA who report having matrilineal descent from Portugal possess are K1a-C150T, K1a3a, K1a4, K1a4a, K1a12, K1c1, K2a5a1, K2a8, K2b1a, K2b1a1, and K2b1a1a.K MtDNA Haplotree at Family Tree DNA  A scientific study likewise found K1c1 in Portugal.GenBank sample EF177407, Pereira et al. 2007

Haplogroup K in North Africa

In 2009, a scientific study found haplogroup K1a in the Tunisians of Tunisia.Costa et al. 2009  According to a later study, some of them belong to the subclades K1a4a1 and K1a12b.Costa et al. 2013, Supplementary Data 3  Other Tunisians belong to the subclade that YFull calls K1-a4, which is defined by the back mutation T195C!, and it is also found in Spain.K1-a4 in MTree

The Jews of Morocco descend in part from the Megorashim, Sephardic Jews who were expelled from Spain in 1492 and from Portugal in 1497, and also from the Toshavim, Jews who already lived in Morocco before 1492.  Some Moroccan Jews possess the haplogroup K1a3a1Costa et al. 2013, Supplementary Data 3 in its subclade K1a3a1aK1a3a1a in MTree and K1a3a1a is also encountered in Algerian Jews.  Other haplogroups that are shared by Moroccan Jews and Algerian Jews include K2a5 and K1c2k (the latter was formedly called simply K1c2Costa et al. 2013, Supplementary Data 3).  Some of the Moroccan Jews are in haplogroup K1a2a.Brook 2022 page 127  K1a4a is shared by the Jewish populations of Algeria, Tunisia, and Libya.  Another haplogroup that has been found among the Algerian Jews is K2a1.Costa et al. 2013, Supplementary Data 3


Antonio et al. 2019 = "Ancient Rome: A genetic crossroads of Europe and the Mediterranean" by Margaret L. Antonio, Ziyue Gao, et al. in Science 366:6466 (November 8, 2019): pages 708-714.

Brook 2022 = The Maternal Genetic Lineages of Ashkenazic Jews by Kevin Alan Brook (Academic Studies Press, 2022).

Costa et al. 2009 = "Data from complete mtDNA sequencing of Tunisian centenarians: testing haplogroup association and the 'golden mean' to longevity" by Marta D. Costa, Lotfi Cherni, et al. in Mechanisms of Ageing and Development 130:4 (April 2009): pages 222-226.

Costa et al. 2013 = "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages" by Marta D. Costa, Joana B. Pereira, et al. in Nature Communications 4 (October 8, 2013): article number 2543.

Ferragut et al. 2020 = "Middle Eastern genetic legacy in the paternal and maternal gene pools of Chuetas" by Joana F. Ferragut, Cristian Ramon, et al. in Scientific Reports 10 (December 8, 2020): article number 21428.

Fregel et al. 2015 = "Isolation and prominent aboriginal maternal legacy in the present-day population of La Gomera (Canary Islands)" by Rosa Fregel, Vicente M. Cabrera, et al. in European Journal of Human Genetics 23 (September 2015): pages 1236-1243.

Marelli et al. 2005 = "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians" by Daniele Ghezzi, Cecilia Marelli, et al. in European Journal of Human Genetics 13:6 (April 13, 2005): pages 748-752.

Modi et al. 2020 = "The mitogenome portrait of Umbria in Central Italy as depicted by contemporary inhabitants and pre-Roman remains" by Alessandra Modi, Hovirag Lancioni, et al. in Scientific Reports 10 (July 1, 2020): article number 10700.

Pereira et al. 2007 = "No Evidence for an mtDNA Role in Sperm Motility: Data from Complete Sequencing of Asthenozoospermic Males" by Luísa Pereira, João Gonçalves, et al. in Molecular Biology and Evolution 24:3 (March 2007): pages 868-874.

Rendon 2017 = "2017 MtDNA Annual Report: An ongoing Citizen Science Genetic Genealogy Study Project for people with roots from the Mexican States of Coahuila, Nuevo Leon and Tamaulipas" by Crispin D. Rendon,

Saenz Ruales 2021 = "Etude paléogénétique de deux sépultures collectives du Néolithique (mont Aimé, Bassin parisien, 3500-3000 av. J.C.)" by Nancy Saenz Ruales (thesis, Université Toulouse III - Paul Sabatier, 2021) - 2021TOU30029 (tel-03285957)

Saupe et al. 2021 = "Ancient genomes reveal structural shifts after the arrival of Steppe-related ancestry in the Italian Peninsula" by Tina Saupe, Francesco Montinaro, et al. in Current Biology 31:12 (June 21, 2021): pages 2576-2591.e12.