Genes involved in High-Altitude Adaptation in Tibetan. - Coggle Diagram
Genes involved in High-Altitude Adaptation in Tibetan.
Intersecting criteria to help with identification.
Having priori candidates for adaptation to high-altitude hypoxia.
Have a genome wide scan conducted to identify different regions with evidence of local positive selection in high-altitude Tibetans.
Distinct physiologic traits from high-altitude conditions in Tibetans.
Lack of hypoxic pulmonary vasoconstriction.
Lower incidence of reduced birth weight.
Increased resting ventilation.
Reduced hemoglobin concentration.
Decreased arterial oxygen content.
What alleles were tested.
Cross-population extended haplotype homozygosity (XP-EHH)
Integrated haplotype score (iHS)
Single-nucleotide polymorphisms (SNPs)
Purpose for testing allele.
To find traits that support elevated circulating NO levels which help increase vasodilation and blood flow, and when combined, increase oxygen cells.
XP-EHH and iHS can find natural selection using the SNP genotype.
Regional candidate results.
10 of 240 genes found in functional group.
Six of the genes were found to be XP-EHH.
Five genes were found to be iHS.
Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR, Xing J, Jorde LB, et al. 2010. Genetic Evidence for High-Altitude Adaptation in Tibet. Science. 329(5987):72–75. doi:10.1126/science.1189406.
Both five 200-kb regions found the core selected haplotype which contained the three SNP alleles found in iHS.
EGLNI and PPARA show negative correlations with hemoglobin (Hb)
High-altitude adaptation in Tibetans has resulted from local positive
selection on several distinct gene
Genes and Loci identified.
Angiopoietin-like 4 (ANGPTL4)
kinase II delta (CamK2D)
Cytochrome P450, family 2, subfamily E,
polypeptide 1 (CYP2E1)
Egl nine homolog 1 (EGLN1)
Endothelial PAS domain protein 1 (EPAS1)
Heme oxygenase (decycling) 2 (HMOX2)
Cytochrome P450, family 17, subfamily A,
polypeptide 1 (CYP17A1)
Phosphatase and tensin homolog (PTEN)
receptor alpha (PPARA)
Endothelin receptor type A (EDNRA)
Divide genomes into nonoverlapping 200-kb regions
Additional testing analysis of multiple localization signals close to the gene bracket.
247 functional candidate loci