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High altitude adaptations in Tibet - Coggle Diagram
High altitude adaptations in Tibet
Current Tibet population descended from people who occupied tibeten plateau 7000 - 5000 years ago.
Exhibet phenotypic adaptations to high altitudes
lack of hypoxic pulmonary vasoconstriction
reduced hemoglobin (Hb) concentration
to compensate for the hypoxic
high-altitude environment
lower incidence of reduced birth weight
increased resting ventilation
decreased arterial oxygen content
Genes related to Adaptation still unknown
priori candidates for adaptation to high-altitude hypoxia were chosen based on known function.
N=10 candidates
A genome wide scan was done to identify regions show strong evidence of local positive selection
in high-altitude Tibetans.
Notee: No admixture
XP-EHH Candidates
genes in the top 1% of empirical distribution
iHS Candidates
excluded the genes with positive selection in neighboring populations
Functional candidates
Genes with physiological traits for hypoxia
Results
Genes found
6 identified by XP-EHH and 5 identified by IHS
EGLN1, EPASI, EDNRA, PTEN, PPARA, CYP17A1, CYP2E1, HMOX2, CAMK2D, AND ANDPTL4
MULTIPLE localization signals near or bracketing gene. this means that high altitude adaptations in Tibetans are the result of positive selection on several genes,
Randomization test
On average, the XP-EHH and iHS intersections contained 2.7 and 1.4 genes respectfully. Which is fewer than the genes observed (six and five)
EGLN1 and PPARA, which have undergone positive selection and are associated with Hb levels in this Tibetan sample,