高原民族和动物低氧适应血液生理特征及相关基因研究进展

摘要/Abstract

摘要： 高原环境主要的生态因子为低氧分压,高原民族和动物定居高原的时间和海拔不同,受到不同程度和不同时间的低氧选择。血液生理特征是机体适应低氧环境的一个重要表现,血液生理指标能直接反应机体对低氧环境的适应性。同时,低氧适应相关基因在机体低氧适应的调控过程中起着非常重要的作用。高原民族和动物低氧适应研究的热点集中于血液生理及其形成的分子机制领域,而随着分子生物学技术的发展,越来越多参与低氧适应调控通路的基因被发现,作者就低氧适应血液生理特征和相关基因的研究进展进行综述。

关键词: 低氧适应; 血液生理; 候选基因; 高原民族; 高原动物

Abstract: Plateau environment is characterized by low oxygen partial pressure, plateau nation and animals settled in highlands at different time and levels height, subject to different degrees and different times of hypoxia selection. Physiological characteristic of blood is an important performance of hypoxia adaptation, and blood physiological parameters can directly reflect organism’s adaptability to hypoxic environment. At the same time, genes related hypoxia adaptation play very important roles in the regulation process of body hypoxia adaptation. The researchs on hypoxia adaptation of plateau nation and animals are concentrated in blood physiology and its molecular mechanism, more and more genes that involve in regulation pathways of hypoxia adaptation are found with developing of molecular biology techniques. In this paper, we review the progress of research on blood physiological characteristics and related genes of hypoxia adaptation.

Key words: hypoxia adaptation; blood physiology; candidate gene; plateau nation; plateau animal

中图分类号:

Q494

江炎庭, 苟潇, 李明丽, 严达伟, 李继中, 鲁绍雄. 高原民族和动物低氧适应血液生理特征及相关基因研究进展[J]. , 2012, 39(10): 149-153.

JIANG Yan-ting, GOU Xiao, LI Ming-li, YAN Da-wei, LI Ji-zhong, LU Shao-xiong. Physiological Characteristics of Blood and Research Progress on Hypoxia Candidate Genes in Plateau Nation and Animals[J]. , 2012, 39(10): 149-153.

参考文献

1 马兰,格日力.高原鼠兔低氧适应分子机制的研究进展[J].生理科学进展,2007,38(2):143~146.
2 王晓君,魏登邦,魏莲,等.高原鼢鼠和高原鼠兔红细胞低氧适应特征[J].四川动物,2008,27(2):1100~1103.
3 李月明. 甘肃鼢鼠低氧适应研究.西安:陕西师范大学,2007.
4 杨会强. 藏猪β-珠蛋白基因与其低氧遗传适应的关系.北京:中国农业科学院,2010.
5 陈雪梅,金双,钟金城,等.牦牛EPO基因PCR-SSCP多态性研究[J].河南农业科学,2008,7:104~107.
6 袁青研,张庆波,黄治国,等.中国牦牛β-珠蛋白基因的克隆和序列分析[J].西北农林科技大学学报,2007,34(1):100~104.
7 顾为望,刘运忠,唐小江,等.西藏小型猪血液生理生化指标的初步研究[J].中国实验动物学报,2007,15(1):60~63.
8 韩树鑫,苟潇,杨舒黎. 动物低氧适应的生理与分子机制[J].中国畜牧兽医, 2010, 37(9): 29~33.
9 韩树鑫. 藏猪低氧适应的血红蛋白机制.昆明:云南农业大学,2010.
10 蔡全林. 西藏绵羊、山羊、黄牛、牦牛生理指标测定[J].中国兽医杂志,1980(2):44~46.
11 Aldenderfer M. Moving up in the world[J].Am Sci,2003,91:542~549.
12 Arai H, Hori S, Aramori I, et al. Cloning and expression of a cDNA encoding an endothelin receptor[J].Nature,1990,348: 730~732.
13 Beall C M, Decker M J, Brittenham G M,et al. An ethiopian pattern of human adaptation to high-altitude hypoxia[J].Proc Natl Acad Sci USA, 2002,26:17215~17218.
14 Beall C M,Cavalleri G L,Deng L,et al. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders[J].Proc Natl Acad Sci USA, 2010,107(25):11459~11464.
15 Beall C.Two routes to functional adaptation: Tibetan and Andean high-altitude natives[J].Proc Natl Acad Sci USA, 2007,104(Suppl1):8655~8660.
16 Benyamin B,Ferreira M A R,Willemsen G,et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume[J].Nature Genetics, 2009,41:1173~1175.
17 Bigham A,Bauchet M,Pinto D,et al. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data[J].PLoS Genet, 2010,6(9):e1001116.
18 Bigham A W,Mao X Y,Mei R,et al. Identifying positive selection candidate loci for high-altitude adaptation in Andean populations[J].Hum Genomics, 2009,4(2):79~90.
19 Chambers J C, Zhang W, Li Y,et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels[J].Nature Genetics,2009,41(11):1170~1172.
20 Du X,She E,Gelbart T,et al. The serine protease TMPRSS6 is required to sense iron deficiency[J].Science, 2008,5879(320):1088~1092.
21 Flamant F, Gauthier K, Samarut J. Thyroid hormones signaling is getting more complex: Storms are coming [J].Mol Endocrinol, 2007,21(2):321~333.
22 Hiebl I, Weber R E, Schneeganss D, et al. High-altitude respiration of falconiformes. The primary structures and functional properties of the major and minor hemoglobin components of the adult white-headed vulture(Trigonoceps occipitalis, Aegypiinae)[J].Bio Chem Hoppe Seyler, 1989,370(7):699~706.
23 Jessen T H, Weber R E, Fermi G, et al. Adaptation of bird haemoglobin to high altitudes: Demonstration of molecular mechanism by protein engineering[J].Proc Natl Acad Sci USA, 1991,88:6519~6522.
24 Kemp B E, Stapleton D, Campbell D J,et al. AMP-activated protein kinase, super metabolic regulator[J].Biochem Soc Trans, 2003,31:162~168.
25 Lakhal S, Schodel J, Townsend A R, et al. Regulation of type Ⅱ transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors[J].Biological Chemistry, 2011,285:4090~4097.
26 Lee F S. Genetic causes of erythrocytosis and the oxygen-sensing pathway[J].Blood Reviews, 2008,22:321~332.
27 Maurer E,Gutschow M,Stirnberg M. Matriptase-2(TMPRSS6) is directly up-regulated by hypoxia inducible factor-1: Indentification of a hypoxia responsive element in the TMPRSS6 promoter region[J].Biological Chemistry, 2012, Doi:10.1515/bchm-11-221.
28 Moseley M. The incas and their ancestors[M].Thames and Hudson,London,UK,2001.
29 Peng Y, Yang Z H, Zhang H, et al. Genetic variations in Tibetan populations and high altitude adaptation at the himalayas[J]. Mol Biol Evol, 2011,28(2):1075~1081.
30 Perocchi F, Gohil V M, Girgis H S, et al. MICU1 encodes a mitochondrial EF hand protein required for Ca²⁺ uptake[J]. Nature, 2010,467:291~296.
31 Perutz M F. Species adaptation in a protein molecule[J]. Mol Biol Evo, 1983,1(1):1~28.
32 Quevedo C, Sauzeau V, Menacho-Márquez M, et al. VAV3-deficient mice exhibit a transient delay in cerebellar development[J]. Mol Biol Cell, 2010,21:1125~1139.
33 Ramsay A J, Reid J C, Velasco G, et al. The typeⅡtransmembrane serine protease matriptase-2 -identification, structural features, enzymology, expression pattern and potential roles[J]. Frontiers in Bioscience, 2008,13(1):569~579.
34 Scheinfeldt L B, Soi S, Thompson S, et al. Genetic adaptation to high altitude in the Ethiopian highlands[J]. Genome Biology, 2012, doi:10.1186/gb-2012-12-1-r1
35 Semenza G L. HIF-1: Mediator of physiological and pathophysiological responses to hypoxia[J]. J Appl Physiol, 2000,88:1474~1480.
36 Simonson T S, Yang Y Z, Huff C D, et al. Genetic evidence for high-altitude adaptation in Tibet[J]. Science, 2010,329(5987): 72~75.
37 Stora J F, Runck A M, Sabatino S J, et al. Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer mouse hemoglobin[J]. Proc Natl Acad Sci USA,2009,106(34):14450~14455.
38 Storz J. Genes for high altitudes[J]. Science, 2010,329:40~41.
39 Weber R E, Lalthantluanga R, Braunitzer G. Functional characterization of fetal and adult yak hemoglobin: An oxygen binding cascade and its molecular basis[J]. Archives of Biochemistry and Biophysics, 1988,263(1):199~203.
40 Xu S, Li S L, Yang Y J, et al. A genome-wide search for sinals of high altitude adaptation in Tibetans[J]. Mol Biol Evol, 2011,28(2):1003~1011.
41 Yi X, Liang Y, Huerta-Sanchez E, et al. Sequencing of 50 human exomes reveals adaptation to high altitude[J]. Science, 2010,329(5987):75~78.
42 Zhao M, Kong Q P, Wang H W, et al. Mitochondrial genome evidence reveals successful late paleolithic settlement on the Tibetan plateau[J]. Proc Natl Acad Sci USA, 2009,106(50):21230~21235.

[1]	唐碧徽, 潘璐, 李海英, 赵晓钰, 吴盈萍, 蒋腾, 丁雅文, 吴利楠, 曹妍, 梅志勇. 鹅产蛋性状全基因组选择信号分析[J]. 中国畜牧兽医, 2022, 49(8): 3015-3025.
[2]	邵燕弟, 蒋秋斐, 封元, 王瑜, 张娟, 周子航, 王卫振, 禹保军, 冯小芳, 陈亚飞, 顾亚玲. 牛繁殖性状候选基因研究进展[J]. 中国畜牧兽医, 2022, 49(6): 2270-2278.
[3]	于思梦, 郭占宝, 胡健, 周正奎, 侯水生. 中畜草原白羽肉鸭与樱桃谷鸭的遗传差异分析[J]. 中国畜牧兽医, 2022, 49(3): 801-808.
[4]	徐盼, 仲德, 马政, 刘林雨, 王怡晖, 赵旭庭. 基于全基因组差异甲基化分析鉴别影响苏姜猪体重的候选基因[J]. 中国畜牧兽医, 2021, 48(8): 2889-2900.
[5]	赵丽玲, 向超, 王会, 钟金城, 柴志欣, 王吉坤, 王嘉博, 武志娟, 信金伟, 姬秋梅. 牦牛EPO、PPARα基因SNP与高原低氧适应的相关性分析[J]. 中国畜牧兽医, 2021, 48(5): 1633-1646.
[6]	李倩文, 杨榛, 杨雅楠, 王正文, 文禹粱, 蔡原, 赵生国. 冬夏两季环境温度对藏猪生理特征及相关基因表达的影响[J]. 中国畜牧兽医, 2021, 48(3): 873-881.
[7]	孙凌翥, 冉雪琴, 刘畅, 牛熙, 黄世会, 王嘉福. 香猪基因组外显子SNPs检测及繁殖和体型性状候选基因分析[J]. 中国畜牧兽医, 2021, 48(2): 537-553.
[8]	刘海霞, 朱爱文, 王步忠, 耿昕之, 郑安康. 黑色素形成调控机理及乌骨绵羊黑色素沉积候选基因研究进展[J]. 中国畜牧兽医, 2021, 48(12): 4588-4596.
[9]	刘明美, 戴乐军, 何丛丛, 郑强强, 常艳, 王伟伟. 妊娠母羊饲喂竹酢粉对羔羊生长性能、血液生理生化指标、免疫与抗氧化能力的影响[J]. 中国畜牧兽医, 2020, 47(6): 1759-1764.
[10]	莫家远, 高九昱, 奉玲丽, 李月月, 田威龙, 刘笑笑, 程锋, 梁靓, 雷树桥, 文蔚, 梁晶, 兰干球. 巴马香猪产活仔数性状全基因组关联分析[J]. 中国畜牧兽医, 2020, 47(12): 3965-3975.
[11]	吕世杰, 陈付英, 张子敬, 施巧婷, 辛晓玲, 楚秋霞, 李文军, 柏中林, 王二耀, 徐照学. 南阳牛生长性状相关基因组区域全基因组关联分析[J]. 中国畜牧兽医, 2020, 47(1): 74-82.
[12]	施会彬, 王玉琴, 何翁潭, 吴至博, 田志龙, 余祖华, 丁轲, 赵战勤. 萨杜湖杂交羊生长性能、羊毛品质及血液生理生化指标测定[J]. 《中国畜牧兽医》, 2019, 46(2): 404-413.
[13]	徐盼, 何鑫鑫, 倪黎纲, 唐子雪, 杨持, 朱淑斌, 季鸿鸣, 周春宝. 基于RNA-seq数据鉴定苏姜猪肉质性状相关基因[J]. 中国畜牧兽医, 2019, 46(10): 2813-2822.
[14]	孙宏宇, 索朗斯珠, 徐业芬, 牛家强, 姚一龙, 张入丹, 王冬经. 牛主要抗病候选基因的研究进展[J]. 《中国畜牧兽医》, 2018, 45(7): 1912-1918.
[15]	雷蕾, 包鹏甲, 吴晓云, 褚敏, 梁春年, 阎萍. 不同海拔地区牦牛血液生化指标的比较研究[J]. 《中国畜牧兽医》, 2018, 45(11): 3160-3166.