Tibetan people retained the gene which was present in Denisovan an ancient specie closely resemble anatomically to modern Humans which lived 400,000 to 30,000 years ago on the earth. The state of Tibet is now broken into many regions and countries. Baltistan region of Pakistan was one of the key estates of Tibet till 1200 AD, and the gene of Balti peoples are 400,000 years old. Which clearly shows the existence of human in this mountainous region a long time ago.
An article in The American Journal of Human Genetics show that Tibetan people retained the gene which was present in Denisovan an ancient specie closely resemble anatomically to modern Humans which lived 400,000 to 30,000 years ago on the earth by the researchers in Tibetan population on chromosome number 2 some genes have extremely different alleles and are different between Chinese and Tibetan. Another research showed that Chinese and Tibetan share a common ancestor somewhat before 2750 to 3000 years ago but Chinese don’t retain this gene Tibetan have; this bring about some questions that Have this gene got mutated? Or are this introgressed from Denisovan or Denisovan like another human species in the Tibet? If this gene on chromosome number 2 got mutated then it will be the fastest human mutation which got in just 3000 years. But if it introgressed from Denisovan which have this gene then why Chinese have not because Tibetan and Chinese share common ancestor? Are there any other human like specie lived in Tibet after their extinction from other areas of world from them Tibetan got this gene after divergence and migration to this plateau more researches are need to know this.
EPAS1 gene or hypoxia inducible factor 2 alpha (HIF-2α) is a transcription factor involved in body response to hypoxia and is regulator of hormone erythropoietin which control red cell production. Any lowland resident who travel to highland due to low oxygen level may face polycythemia, hypertension, restlessness, tachycardia and tachypnea like symptoms but Tibetan population due to mutation in this gene can’t show this type of symptoms because this mutated gene help to maintain blood and hemoglobin level at high altitude.
Another research conducted by many well-known research institutes of China, Pakistan and Tajikistan show that Balti people in Baltistan region of Pakistan have their genetic makeup of 22.6 to 26% similar to that of Tibetan rest of them similar to Kashmiris, Central Asian, West Eurasians and Persians like genetics. Upon that genetic makeup similar to Tibetan they retrieved the selective genes for high altitude adaptation in Balti population similar to that of Tibetan. Another research on mitochondria DNA analysis of Balti people revealed that in Balti population have major halogroups are south Asian rest of them are center Asian and East Asian some halogroups in Balti population are specific to Chinese and Tibetan and are only present in Balti population of Pakistan no other Population in Pakistan. This reveales the fact that Balti people are ethnically mixture of South Asian, central Asian, Tibetan and East Asian peoples. By presence of mutated EPAS1 gene Balti people are unique people in Pakistan and Tibetan people in the world with an ancient gene specific to Denisovans which help them to maintain their blood level normal at high altitude without facing complications faced by others populations.
Written by a medical student; Anayatullah (Hamdard Medical University, Karachi)