Haplogroup L0 (mtDNA)

Haplogroup L0
Possible time of origin	112,200 to 188,000 YBP
Possible place of origin	East Africa
Ancestor	Mitochondrial Eve
Descendants	L0a'b'f'k, L0d
Defining mutations	263!, 1048, 3516A, 5442, 6185, 9042, 9347, 10589, 12007, 12720

In human mitochondrial genetics, Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.

Origin

File:InitialExpansionMitogenome.PNG

The region in Africa where Tishkoff found the greatest level of mitochondrial diversity (green) and the region Behar et al. postulated the most ancient division in the human population began to occur (light brown)

L0 is one of two branches from the most recent common ancestor, MRCA, for the shared human maternal lineage. This ancestor is estimated to have lived in East Africa approximately 150,000 to 170,000 years ago. Haplogroup L0 consists of five main branches (L0a, L0b, L0d, L0f, L0k). Four of them were originally classified into haplogroup L1 as L1a, L1d, L1f, and L1k

MRCA (mtDNA)	L0             L0a  L0b  L0f  L0k  L0d  L1-6    L1  L2-6

Distribution

It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%. Some of the higher frequencies are: Namibia (!Xun) 79%, South Africa (Khwe/!Xun) 83% and Botswana (!Kung) 100%.

Haplogroup L0d is the most divergent ("ancient") haplogroup of global mitochondrial DNA haplogroups. It is found at highest frequencies in the Khoisan groups of Southern Africa. L0d is also commonly found in the Coloured population of South Africa and frequencies range from 60% to 71%. This illustrates the massive maternal contribution of Khoisan people to the Coloured population of South Africa.

Haplogroups L0k is the second most common haplogroup in the Khoisan groups (following L0d) and is largely restricted to the Khoisan. Interestingly, while the Khoisan associated L0d haplogroup were found in high frequencies in the Coloured population of South Africa, L0k were not observed in two studies involving large groups of Coloured individuals.

Haplogroup L0f is present in relatively small frequencies in Tanzania, East Africa.

Haplogroup L0a is most prevalent in South-East African populations (25% in Mozambique). Among Guineans, it has a frequency between 1% and 5%, with the Balanta group showing increased frequency of about 11%. Haplogroup L0a has a Paleolithic time depth of about 33,000 years and likely reached Guinea between 10,000 and 4,000 years ago. It also is often seen in the Mbuti and Biaka-pygmies. L0a is found in almost 25% in Hadramawt (Yemen).

Haplogroup L0b Ethiopia.

Drug and Disease Interactions

In patients who are given the drug stavudine to treat HIV, Haplogroup L0a2 is associated with a higher likelihood of peripheral neuropathy as a side effect.

Subclades

Tree

This phylogenetic tree of haplogroup L0 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation and subsequent published research.

• Most Recent Common Ancestor (MRCA)
  • L0
    • L0d
      • L0d3
      • L0d1'2
        • L0d1
          • L0d1a
          • L0d1b
          • L0d1c
            • L0d1c1
        • L0d2
          • L0d2a'b
            • L0d2a
              • L0d2a1
            • L0d2b
          • L0d2c
            • L0d2c1c
    • L0a'b'f'k
      • L0k
        • L0k1
        • L0k2
      • L0a'b'f
        • L0f
          • L0f1
          • L0f2
            • L0f2a
            • L0f2b
        • L0a'b
          • L0a
            • L0a1
              • L0a1a
                • L0a1a2
              • L0a1b
                • L0a1b1
                  • L0a1b1a
                • L0a1b2
              • L0a1c
              • L0a1d
            • L0a2
              • L0a2a
                • L0a2a1
                  • L0a2a1a
                    • L0a2a1a1
                    • L0a2a1a2
                • L0a2a2
                  • L0a2a2a
              • L0a2b
                • L0a2ba
              • L0a2c
              • L0a2d
            • L0a3
            • L0a4
          • L0b

See also

• Genealogical DNA test
• Genetic Genealogy
• Human mitochondrial genetics
• Population Genetics
• Human mitochondrial DNA haplogroups

Evolutionary tree of human mitochondrial DNA (mtDNA) haplogroups

Mitochondrial Eve (L)

L0

L1–6

L1

L2

L3

L4

L5

L6

M

N

CZ

D

E

G

Q

O

A

S

R

I

W

X

Y

C

Z

B

F

R0

pre-JT

P

U

HV

JT

K

H

V

J

T

External links

• General
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's Phylotree
• Haplogroup L0

• Kampira E, Kumwenda J, van Oosterhout JJ, Dandara C. Mitochondrial DNA subhaplogroups L0a2 and L2a modify susceptibility to peripheral neuropathy in malawian adults on stavudine containing highly active antiretroviral therapy., J Acquir Immune Defic Syndr. 2013 Aug 15; 63(5):647-52. doi: 10.1097/QAI.0b013e3182968ea5
• First Ancient Mitochondrial Human Genome from a Pre-Pastoralist Southern African