U9 mtDNA

  • 8 members

About us

Haplogroup U9 is a rare clade found stretching from Europe to India. It is found in Ethiopia [1], Yemen [1], Pakistan [1], Saudi Arabia [2],  India [3], Austria [6], England [6], Hungary [6]. Since it is a new Haplogroup discovered recently, more research is required to learn more.

Scientific Research Papers:

Haplogroup U9 is a rare clade in mtDNA phylogeny, characterized only recently in a few populations of Pakistan (Quintana-Murci et al. 2004). Its presence in Ethiopia and Yemen, together with some Indian-specific M lineages in the Yemeni sample, points to gene flow along the coast of the Arabian Sea. Haplogroups U9 and U4 share two common mutations at the root of their phylogeny. It is interesting that, in Pakistan, U9 occurs frequently only among the so-called “negroid Makrani” population. In this particular population, lineages specific to sub-Saharan Africans occur as frequently as 39%, which suggests that U9 lineages in Pakistan may have an African origin (Quintana-Murci et al. 2004). Regardless of which coast of the Arabian Sea may have been the origin of U9, its Ethiopian–southern Arabian–Indus Basin distribution hints that its diversification from U4 may have occurred in regions far away from the current area of the highest diversity and frequency of haplogroup U4—East Europe and western Siberia [1].

The rare haplogroup U9 was present in our sample (see reference) with a frequency of 3%. This haplogroup was first defined by RFLP-6383 HaeIII and observed only in South Pakistan. It was later proven to be a sister branch of haplogroup U4 on the basis of two complete U9 sequences (one Ethiopian and one Pakistani), both of which shared the 499–5999 motif. In addition to 6386, transitions at 3531, 3834, and 14094 defined the basal motif of U9. The Ethiopian sequence was considered representative of sub-cluster U9a and the Pakistani sequence as representative of sub-cluster U9b. The three Saudi U9 sequences belonged to U9a because all of them shared the HVSI 16051–16278 motif with the Ethiopian sequence while none of them shared any HVSI or HVSII mutations with the U9b Pakistani sequence. These three U9a sequences may be different occurrences of an old implantation of this haplogroup in the Arabian Peninsula [2].

U9 is a rare haplogroup previously observed in Pakistan, Yemen and Ethiopia. Interestingly, the U9 mtDNA that we found in Andhra Pradesh, together with an Ethiopian mtDNA, defines the new U9a sub-group, thus confirming the ancient genetic links between East Africa, Southwest Asia and India [3].

The European clade U2e and the rare clade U9 could have reached the Arabian Peninsula from northern areas [4]. 

HVI sequence analysis of 34 Gujarati samples from North-western India revealed equal predominance of U2a and U7 sub-haplogroups (8.8%) followed by U2b (5.9%) and U2c (2.9%). Other sub-haplogroups of U: U1, U2e, U3, U4, U5, U8b, U9 and K, were completely absent in the studied populations [5].

mtDNA U9 Tree
  • U9 G3531A  G3834A  C6386T  T14094C 
    • U9a C195T!!  A16051G  C16278T! 
      • U9a1 T3290C  G15077A  C16193T  T16357C 
    • U9b A12615G 
      • U9b1 573.XC  A9299G  A11350G  T13111C 

  1. Kivisild, Toomas, Maere Reidla, Ene Metspalu, Alexandra Rosa, Antonio Brehm, Erwan Pennarun, Jüri Parik, Tarekegn Geberhiwot, Esien Usanga, and Richard Villems. "Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears." The American Journal of Human Genetics 75, no. 5 (2004): 752-770.
  2. Khaled, Abu-Amero, González Ana, Larruga Jose, Bosley Thomas, and Cabrera Vicente. "Eurasian and African mitochondrial DNA influences in the Saudi Arabian population." BMC Evolutionary Biology 7.
  3. Simona, Fornarino, Pala Maria, Battaglia Vincenza, Maranta Ramona, Achilli Alessandro, Modiano Guido, Torroni Antonio, Semino Ornella, and Santachiara-Benerecetti Silvana. "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation." BMC Evolutionary Biology 9.
  4. Khaled, Abu-Amero, Cabrera Vicente, and González Ana. "Mitochondrial DNA structure in the Arabian Peninsula." BMC Evolutionary Biology 8.
  5. Maji, Suvendu, S. Krithika, and T. S. Vasulu. "Distribution of mitochondrial DNA macrohaplogroup N in India with special reference to haplogroup R and its sub-haplogroup U." International Journal of Human Genetics 8, no. 1/2 (2008): 85.