A Positive Correlation between Elevated Altitude and Frequency of Mutant Alleles at the EPAS1 and HBB Loci in Chinese Indigenous Dogs

Journal of Genetics and Genomics

Volumn 42, Issue 4, 2015, Pages 173-177

  Fan, Ruoxi ^a   Liu, Fei ^b   Wu, Hong ^a   Wu, Shifang ^b   Zhu, Chunling ^b   Li, Yan ^b   Wang, Guodong ^b   Zhang, Yaping ^a,b  

^a YUNNAN UNIVERSITY   (China)

^b KUNMING INSTITUTE OF ZOOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ENDOTHELIAL PAS DOMAIN PROTEIN 1; HEMOGLOBIN BETA; HYPOXIA INDUCIBLE FACTOR; PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HIF 2 ALPHA; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; ENDOTHELIAL PAS DOMAIN-CONTAINING PROTEIN 1; HEMOGLOBIN BETA CHAIN;

ALLELE; ALTITUDE; ALTITUDE DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTERIAL OXYGEN TENSION; BETA SHEET; CHINESE; CONTROLLED STUDY; DOG; ECOLOGICAL NICHE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; LETTER; MORPHOLOGICAL ADAPTATION; NONHUMAN; POLYMERASE CHAIN REACTION; POPULATION; POPULATION DIFFERENTIATION; POPULATION SIZE; PROTEIN DOMAIN; PROTEIN FUNCTION; SEA LEVEL; SELECTIVE SWEEP; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SUBSTITUTION; ANIMAL; CHINA; GENETICS; MUTATION; STATISTICS;

CANIS FAMILIARIS;

ALLELES; ALTITUDE; AMINO ACID SUBSTITUTION; ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BETA-GLOBINS; CHINA; DOGS; GENE FREQUENCY; GENOTYPE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; STATISTICS AS TOPIC;

EID: 84928826624     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2015.02.006     Document Type: Letter

References (20)

1. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
2. Akey J.M., Zhang G., Zhang K., Jin L., Shriver M.D. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 2002, 12:1805-1814.
3. Beall C.M., Cavalleri G.L., Deng L., Elston R.C., Gao Y., Knight J., Li C., Li J.C., Liang Y., McCormack M., Montgomery H.E., Pan H., Robbins P.A., Shianna K.V., Tam S.C., Tsering N., Veeramah K.R., Wang W., Wangdui P., Weale M.E., Xu Y., Xu Z., Yang L., Zaman M.J., Zeng C., Zhang L., Zhang X., Zhaxi P., Zheng Y.T. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc. Natl. Acad. Sci. USA 2010, 107:11459-11464.
4. Bigham A., Bauchet M., Pinto D., Mao X., Akey J.M., Mei R., Scherer S.W., Julian C.G., Wilson M.J., Lopez Herraez D., Brutsaert T., Parra E.J., Moore L.G., Shriver M.D. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet. 2010, 6:e1001116.
5. Gou X., Wang Z., Li N., Qiu F., Xu Z., Yan D., Yang S., Jia J., Kong X., Wei Z., Lu S., Lian L., Wu C., Wang X., Li G., Ma T., Jiang Q., Zhao X., Yang J., Liu B., Wei D., Li H., Yang J., Yan Y., Zhao G., Dong X., Li M., Deng W., Leng J., Wei C., Wang C., Mao H., Zhang H., Ding G., Li Y. Whole-genome sequencing of six dog breeds from continuous altitudes reveals adaptation to high-altitude hypoxia. Genome Res. 2014, 24:1308-1315.
6. Ji L.D., Qiu Y.Q., Xu J., Irwin D.M., Tam S.C., Tang N.L., Zhang Y.P. Genetic adaptation of the hypoxia-inducible factor pathway to oxygen pressure among eurasian human populations. Mol. Biol. Evol. 2012, 29:3359-3370.
7. Key J., Scheuermann T.H., Anderson P.C., Daggett V., Gardner K.H. Principles of ligand binding within a completely buried cavity in HIF2alpha PAS-B. J. Am. Chem. Soc. 2009, 131:17647-17654.
8. Lee F.S., Percy M.J. The HIF pathway and erythrocytosis. Annu. Rev. Pathol. 2011, 6:165-192.
9. Mairbaurl H., Weber R.E. Oxygen transport by hemoglobin. Compr. Physiol. 2012, 2:1463-1489.
10. Natarajan C., Inoguchi N., Weber R.E., Fago A., Moriyama H., Storz J.F. Epistasis among adaptive mutations in deer mouse hemoglobin. Science 2013, 340:1324-1327.
11. Sabeti P.C., Reich D.E., Higgins J.M., Levine H.Z., Richter D.J., Schaffner S.F., Gabriel S.B., Platko J.V., Patterson N.J., McDonald G.J., Ackerman H.C., Campbell S.J., Altshuler D., Cooper R., Kwiatkowski D., Ward R., Lander E.S. Detecting recent positive selection in the human genome from haplotype structure. Nature 2002, 419:832-837.
12. Savolainen P., Zhang Y.P., Luo J., Lundeberg J., Leitner T. Genetic evidence for an East Asian origin of domestic dogs. Science 2002, 298:1610-1613.
13. Simonson T.S., Yang Y., Huff C.D., Yun H., Qin G., Witherspoon D.J., Bai Z., Lorenzo F.R., Xing J., Jorde L.B., Prchal J.T., Ge R. Genetic evidence for high-altitude adaptation in Tibet. Science 2010, 329:72-75.
14. Storz J.F., Moriyama H. Mechanisms of hemoglobin adaptation to high altitude hypoxia. High Alt. Med. Biol. 2008, 9:148-157.
15. Tang K., Thornton K.R., Stoneking M. A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol. 2007, 5:e171.
16. Wang G.D., Fan R.X., Zhai W., Liu F., Wang L., Zhong L., Wu H., Yang H.C., Wu S.F., Zhu C.L., Li Y., Gao Y., Ge R.L., Wu C.I., Zhang Y.P. Genetic convergence in the adaptation of dogs and humans to the high-altitude environment of the tibetan plateau. Genome Biol. Evol. 2014, 6:2122-2128.
17. Wang G.D., Zhai W., Yang H.C., Fan R.X., Cao X., Zhong L., Wang L., Liu F., Wu H., Cheng L.G., Poyarkov A.D., Poyarkov N.A., Tang S.S., Zhao W.M., Gao Y., Lv X.M., Irwin D.M., Savolainen P., Wu C.I., Zhang Y.P. The genomics of selection in dogs and the parallel evolution between dogs and humans. Nat. Commun. 2013, 4:1860.
18. Weir B.S., Cockerham C.C. Estimating F-statistics for the analysis of population structure. Evolution 1984, 38:1358-1370.
19. Yi X., Liang Y., Huerta-Sanchez E., Jin X., Cuo Z.X., Pool J.E., Xu X., Jiang H., Vinckenbosch N., Korneliussen T.S., Zheng H., Liu T., He W., Li K., Luo R., Nie X., Wu H., Zhao M., Cao H., Zou J., Shan Y., Li S., Yang Q., Asan, Ni P., Tian G., Xu J., Liu X., Jiang T., Wu R., Zhou G., Tang M., Qin J., Wang T., Feng S., Li G., Huasang, Luosang J., Wang W., Chen F., Wang Y., Zheng X., Li Z., Bianba Z., Yang G., Wang X., Tang S., Gao G., Chen Y., Luo Z., Gusang L., Cao Z., Zhang Q., Ouyang W., Ren X., Liang H., Zheng H., Huang Y., Li J., Bolund L., Kristiansen K., Li Y., Zhang Y., Zhang X., Li R., Li S., Yang H., Nielsen R., Wang J., Wang J. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 2010, 329:75-78.
20. Zhao M., Kong Q.P., Wang H.W., Peng M.S., Xie X.D., Wang W.Z., Jiayang, Duan J.G., Cai M.C., Zhao S.N., Cidanpingcuo, Tu Y.Q., Wu S.F., Yao Y.G., Bandelt H.J., Zhang Y.P. Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc. Natl. Acad. Sci. USA 2009, 106:21230-21235.