TPI缺乏症斑马鱼模型的构建及分析

doi:10.16288/j.yczz.23-316

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Hereditas(Beijing) ›› 2024, Vol. 46 ›› Issue (3): 232-241.doi: 10.16288/j.yczz.23-316

• Research Article • Previous Articles Next Articles

Generation and analysis of TPI deficiency zebrafish model

Piao Sun¹(), Ying Li¹(), Fan Liu¹, Lu Wang¹^,²()

1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China
2. Tianjin Institutes of Health Science, Tianjin 301600, China

Received:2023-12-22 Revised:2024-02-05 Online:2024-03-20 Published:2024-02-22
Contact: Lu Wang E-mail:sunpiao@ihcams.ac.cn;liying3@ihcams.ac.cn;wanglu1@ihcams.ac.cn
Supported by:
National Natural Science Foundation of China(32222027);National Natural Science Foundation of China(32170838);Science Fund for Distinguished Young Scholars of Tianjin Municipality(21JCJQJC00120)

Abstract

Abstract:

Triosephosphate isomerase deficiency (TPI DF) is a severe multisystem degenerative disease, manifested clinically as hemolytic anemia, neuromuscular abnormalities, and susceptibility to infection, frequently leading to death within 5 years of onset. There is a lack of effective clinical treatment as the pathogenesis underlying TPI DF remains largely unknown. In this study, we generate a transgenic zebrafish line [Tg(Ubi:TPI1^E105D-eGFP)] with the human TPI1^E105D (hTPI1^E105D) mutation, which is the most recurrent mutation in TPI DF patients. Overexpression of hTPI1^E105D affects the development of erythroid and myeloid cells and leads to impaired neural and muscular development. In conclusion, we create a TPI DF zebrafish model to recapitulate the majority clinical features of TPI DF patients, providing a new animal model for pathogenesis study and drug screening of TPI DF.

Key words: triosephosphate isomerase deficiency (TPI DF), TPI1^E105D, zebrafish, disease model

Piao Sun, Ying Li, Fan Liu, Lu Wang. Generation and analysis of TPI deficiency zebrafish model[J]. Hereditas(Beijing), 2024, 46(3): 232-241.

Figures/Tables 5

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Table 1

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References 23

[1]	Schneider AS. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillieres Best Pract Res Clin Haematol, 2000, 13(1): 119-140. doi: 10.1053/beha.2000.0061 pmid: 10916682
[2]	Rieder SV, Rose IA. The mechanism of the triosephosphate isomerase reaction. J Biol Chem, 1959, 234(5): 1007-1010. pmid: 13654309
[3]	Wierenga RK, Kapetaniou EG, Venkatesan R. Triosephosphate isomerase: a highly evolved biocatalyst. Cell Mol Life Sci, 2010, 67(23): 3961-3982. doi: 10.1007/s00018-010-0473-9 pmid: 20694739
[4]	Schneider AS, Valentine WN, Hattori M, Heins HL. Hereditary hemolytic anemia with triosephosphate isomerase deficiency. N Engl J Med, 1965, 272: 229-235. doi: 10.1056/NEJM196502042720503
[5]	Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta, 2009, 1792(12): 1168-1174. doi: 10.1016/j.bbadis.2009.09.012 pmid: 19786097
[6]	Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life, 2006, 58(12): 703-715. doi: 10.1080/15216540601115960 pmid: 17424909
[7]	Daar IO, Artymiuk PJ, Phillips DC, Maquat LE. Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc Natl Acad Sci USA, 1986, 83(20): 7903-7907. pmid: 2876430
[8]	Schneider A, Cohen-Solal M. Hematologically important mutations: triosephosphate isomerase. Blood Cells Mol Dis, 1996, 22(1): 82-84. doi: 10.1006/bcmd.1996.0011
[9]	Oliver C, Timson DJ. In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: towards a predictive framework for TPI deficiency. Eur J Med Genet, 2017, 60(6): 289-298. doi: S1769-7212(16)30217-8 pmid: 28341520
[10]	Ralser M, Heeren G, Breitenbach M, Lehrach H, Krobitsch S. Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity-- of the mutant enzymes. PLoS One, 2006, 1(1): e30. doi: 10.1371/journal.pone.0000030
[11]	Zhang CX, Liu F. A brief protocol for high-resolution whole mount in situ hybridization in zebrafish. Hereditas(Beijing), 2013, 35(4): 522-528.
	张春霞, 刘峰. 斑马鱼高分辨率整胚原位杂交实验方法与流程. 遗传, 2013, 35(4): 522-528.
[12]	Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, Preibisch S, Rueden C, Saalfeld S, Schmid B, Tinevez JY, White DJ, Hartenstein V, Eliceiri K, Tomancak P, Cardona A. Fiji: an open-source platform for biological-image analysis. Nat Methods, 2012, 9(7): 676-682. doi: 10.1038/nmeth.2019 pmid: 22743772
[13]	Roland BP, Zeccola AM, Larsen SB, Amrich CG, Talsma AD, Stuchul KA, Heroux A, Levitan ES, Vandemark AP, Palladino MJ. Structural and genetic studies demonstrate neurologic dysfunction in triosephosphate isomerase deficiency is associated with impaired synaptic vesicle dynamics. PLoS Genet, 2016, 12(3): e1005941. doi: 10.1371/journal.pgen.1005941
[14]	Selamioğlu A, Karaca M, Balcı MC, Körbeyli HK, Durmuş A, Yıldız EP, Karaman S, Gökçay GF. Triosephosphate isomerase deficiency: E105D mutation in unrelated patients and review of the literature. Mol Syndromol, 2023, 14(3): 231-238.
[15]	Li XX, Li Y, Zhao X, Peng GX, Li JP, Ye L, Yang WR, Zhou K, Fan HH, Yang Y, Xiong YZ, Li Y, Song L, Jing LP, Zhang L, Zhang FK. Characteristics of bone marrow compensatory erythropoiesis in hereditary spherocytosis. Chin J Hematol, 2022, 43(2): 115-119. doi: 10.3760/cma.j.issn.0253-2727.2022.02.005 pmid: 35381671
	李小霞, 李园, 赵馨, 彭广新, 李建平, 叶蕾, 杨文睿, 周康, 樊慧慧, 杨洋, 熊佑祯, 李洋, 宋琳, 井丽萍, 张莉, 张凤奎. 遗传性球形红细胞增多症骨髓红系造血代偿特征. 中华血液学杂志, 2022, 43(2): 115-119.
[16]	Beguin Y, Clemons GK, Pootrakul P, Fillet G. Quantitative assessment of erythropoiesis and functional classification of anemia based on measurements of serum transferrin receptor and erythropoietin. Blood, 1993, 81(4): 1067-1076. pmid: 8427988
[17]	Horwood NJ. Macrophage polarization and bone formation: a review. Clin Rev Allergy Immunol, 2016, 51(1): 79-86. doi: 10.1007/s12016-015-8519-2
[18]	Segal AW. How neutrophils kill microbes. Annu Rev Immunol, 2005, 23: 197-223. pmid: 15771570
[19]	Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-Mcgreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, de Angelis MH, Schrewe H, Yuneva M, Ralser M. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. J Inherit Metab Dis, 2019, 42(5): 839-849. doi: 10.1002/jimd.12105 pmid: 31111503
[20]	Myers TD, Ferguson C, Gliniak E, Homanics GE, Palladino MJ. Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction. Curr Res Neurobiol, 2022, 3: 100062. doi: 10.1016/j.crneur.2022.100062
[21]	Hrizo SL, Eicher SL, Myers TD, Mcgrath I, Wodrich APK, Venkatesh H, Manjooran D, Swoger S, Gagnon K, Bruskin M, Lebedev MV, Zheng S, Vitantonio A, Kim S, Lamb ZJ, Vogt A, Ruzhnikov MRZ, Palladino MJ. Identification of protein quality control regulators using a Drosophila model of TPI deficiency. Neurobiol Dis, 2021, 152: 105299. doi: 10.1016/j.nbd.2021.105299
[22]	Mainfroid V, Terpstra P, Beauregard M, Frère JM, Mande SC, Hol WG, Martial JA, Goraj K. Three hTIM mutants that provide new insights on why TIM is a dimer. J Mol Biol, 1996, 257(2): 441-456. pmid: 8609635
[23]	Orosz F, Wágner G, Liliom K, Kovács J, Baróti K, Horányi M, Farkas T, Hollán S, Ovádi J. Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules. Proc Natl Acad Sci USA, 2000, 97(3): 1026-1031. pmid: 10655478

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突变位点	与功能域的关系	功能
M1K	二聚化位点	影响催化活性
C42Y	靠近底物结合位点和二聚化位点	影响催化活性和分子稳定性
A63D	靠近二聚化位点	影响分子稳定性
G73A	底物结合位点，靠近二聚化位点	影响催化活性和分子稳定性
E105D	靠近二聚化位点	影响分子稳定性
G123R	不影响功能域	无异常
G146*	TPI翻译提前终止	不明
V155M	不影响功能域	无异常
I171V	位于底物结合位点和柔性环内	影响催化活性和分子稳定性
R190*	TPI翻译提前终止	不明
V232M	底物结合位点，靠近二聚化位点	影响催化活性和分子稳定性
F241L	底物结合位点	影响催化活性
F241S	底物结合位点	影响催化活性

Generation and analysis of TPI deficiency zebrafish model

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