ORIGINAL ARTICLE
Gene expression profile and presentation of novel gene variants of COX7B and COX7C in a cohort of patients with chronic myeloid leukemia
 
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Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University, Dammam, SAUDI ARABIA
 
 
Online publication date: 2023-02-05
 
 
Publication date: 2023-05-01
 
 
Electron J Gen Med 2023;20(3):em468
 
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ABSTRACT
Chronic myeloid leukemia (CML) is a common blood malignancy awaiting decisive cure. Understanding the genomic nature of the disease could help to improve treatment strategies and introduce novel therapeutic targets. The purpose of this study was to sequence the entire transcriptome of a cohort of CML patients to understand differences in gene expression profiles and gene variants compared to healthy controls. RNA was extracted from 10 CML and four healthy control subjects and sequenced by the DNBSEQ platform. Differential gene expression was evaluated and confirmed by the q-RT-PCR technique. Gene variants were also analyzed. The results showed that COX7B and COX7C were upregulated in CML patients than in controls; this was confirmed by quantitative PCR. In addition, novel single nucleotide and insertion/deletion variants were also found in both genes. In conclusion, the results of this study recommend further exploration of COX7B and COX7C and their novel variants in myeloid leukemogenesis.
 
REFERENCES (29)
1.
Zhou T, Medeiros LJ, Hu S. Chronic myeloid leukemia: Beyond BCR-ABL1. Curr Hematol Malig Rep. 2018;13(6):435-45. https://doi.org/10.1007/s11899... PMid:30370478.
 
2.
Zhang X, Subrahmanyam R, Wong R, Gross AW, Ren R. The NH(2)-terminal coiled-coil domain and tyrosine 177 play important roles in induction of a myeloproliferative disease in mice by Bcr-Abl. Mol Cell Biol. 2001;21(3):840-53. https://doi.org/10.1128/mcb.21... PMid:11154271 PMCid:PMC86675.
 
3.
Cilloni D, Saglio G. Molecular pathways: BCR-ABL. Clin Cancer Res. 2012;18(4):930. https://doi.org/10.1158/1078-0... PMid:22156549.
 
4.
Mu Q, Ma Q, Wang Y, et al. Cytogenetic profile of 1,863 Ph/BCR-ABL-positive chronic myelogenous leukemia patients from the Chinese population. Ann Hematol. 2012;91(7):1065-72. https://doi.org/10.1007/s00277... PMid:22349721.
 
5.
Baccarani M, Deininger MW, Rosti G, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood. 2013;122(6):872-84. https://doi.org/10.1182/blood-... PMid:23803709 PMCid:PMC4915804.
 
6.
Soverini S, Branford S, Nicolini FE, et al. Implications of BCR-ABL1 kinase domain-mediated resistance in chronic myeloid leukemia. Leuk Res. 2014;38(1):10-20. https://doi.org/10.1016/j.leuk... PMid:24131888.
 
7.
Zhang W, Yang B, Weng L, et al. Single cell sequencing reveals cell populations that predict primary resistance to imatinib in chronic myeloid leukemia. Aging. 2020;12(24):25337-55. https://doi.org/10.18632/aging... PMid:33226961 PMCid:PMC7803567.
 
8.
Warfvinge R, Geironson L, Sommarin MNE, et al. Single-cell molecular analysis defines therapy response and immunophenotype of stem cell subpopulations in CML. Blood. 2017;129(17):2384-94. https://doi.org/10.1182/blood-... PMid:28122740 PMCid:PMC5484462.
 
9.
Langmead B, Salzberg SL. Fast gapped-read alignment with Bowtie 2. Nat Methods. 2012;9(4):357-9. https://doi.org/10.1038/nmeth.... PMid:22388286 PMCid:PMC3322381.
 
10.
Li B, Dewey CN. RSEM: Accurate transcript quantification from RNA-Seq data with or without a reference genome. BMC Bioinformatics. 2011;12(1):323. https://doi.org/10.1186/1471-2... PMid:21816040 PMCid:PMC3163565.
 
11.
Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 2014;15(12):550. https://doi.org/10.1186/s13059... PMid:25516281 PMCid:PMC4302049.
 
12.
Kim D, Langmead B, Salzberg SL. HISAT: A fast spliced aligner with low memory requirements. Nat Methods. 2015;12(4):357-60. https://doi.org/10.1038/nmeth.... PMid:25751142 PMCid:PMC4655817.
 
13.
McKenna A, Hanna M, Banks E, et al. The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-303. https://doi.org/10.1101/gr.107... PMid:20644199 PMCid:PMC2928508.
 
14.
Hannemann J, Oosterkamp HM, Bosch CA, et al. Changes in gene expression associated with response to neoadjuvant chemotherapy in breast cancer. J Clin Oncol. 2005;23(15):3331-42. https://doi.org/10.1200/jco.20... PMid:15908647.
 
15.
Indrieri A, van Rahden VA, Tiranti V, et al. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012;91(5):942-9. https://doi.org/10.1016/j.ajhg... PMid:23122588 PMCid:PMC3487127.
 
16.
van Rahden VA, Fernandez-Vizarra E, Alawi M, et al. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2015;96(4):640-50. https://doi.org/10.1016/j.ajhg... PMid:25772934 PMCid:PMC4385192.
 
17.
Tanaka N, Katayama S, Reddy A, et al. Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63. Cancer Med. 2018;7(12):6193-204. https://doi.org/10.1002/cam4.1... PMid:30367559 PMCid:PMC6308066.
 
18.
Blackman MCNM, Capeloa T, Rondeau JD, et al. Mitochondrial protein Cox7b is a metabolic sensor driving brain-specific metastasis of human breast cancer cells. Cancers (Basel). 2022;14(18):4371. https://doi.org/10.3390/cancer... PMid:36139533 PMCid:PMC9497206.
 
19.
Xiong S, Wang Q, Zheng L, Gao F, Li J. Identification of candidate molecular markers of nasopharyngeal carcinoma by tissue microarray and in situ hybridization. Med Oncol. 2011;28 Suppl 1:S341-8. https://doi.org/10.1007/s12032... PMid:21057896.
 
20.
Liang H, Chen H, Shen Y, et al. A rare polymorphism of the COX7B2 gene in a cantonese family with nasopharyngeal carcinoma. Sci China C Life Sci. 2004;47(5):449-53. https://doi.org/10.1360/03yc00... PMid:15623157.
 
21.
Čunátová K, Reguera DP, Houštěk J, Mráček T, Pecina P. Role of cytochrome c oxidase nuclear-encoded subunits in health and disease. Physiol Res. 2020;69(6):947-65. https://doi.org/10.33549/physi... PMid:33129245 PMCid:PMC8549878.
 
22.
Song K, Gu B, Ma C, et al. Epithelial-mesenchymal transition gene signature is associated with neoadjuvant chemoradiotherapy resistance and prognosis of esophageal squamous cell carcinoma. Dis Markers. 2022;2022:3534433. https://doi.org/10.1155/2022/3... PMid:36072903 PMCid:PMC9442501.
 
23.
Dang C, Gottschling M, Manning K, et al. Identification of dysregulated genes in cutaneous squamous cell carcinoma. Oncol Rep. 2006;16(3):513-9. https://doi.org/10.3892/or.16.... PMid:16865251.
 
24.
De Angelis PM, Svendsrud DH, Kravik KL, Stokke T. Cellular response to 5-fluorouracil (5-FU) in 5-FU-resistant colon cancer cell lines during treatment and recovery. Mol Cancer. 2006;5:20. https://doi.org/10.1186/1476-4... PMid:16709241 PMCid:PMC1524802.
 
25.
Wu B, Chen S, Zhuang L, Zeng J. The expression level of COX7C associates with venous thromboembolism in colon cancer patients. Clin Exp Med. 2020;20(4):527-33. https://doi.org/10.1007/s10238... PMid:32653968.
 
26.
Lan HT, Tong ZJ, Ma Y, Han HT, Zhong M, Wang ZH. Integrated bioinformatics analysis identifies microRNA-200a-5p as a new plasma marker in patients with venous thromboembolism. Ann Vasc Surg. 2022;84:354-70. https://doi.org/10.1016/j.avsg... PMid:35276351.
 
27.
Wang X, Wang LT, Yu B. UBE2D1 and COX7C as potential biomarkers of diabetes-related sepsis. Biomed Res Int. 2022;2022:9463717. https://doi.org/10.1155/2022/9... PMid:35445133 PMCid:PMC9015863.
 
28.
Chen Y-C, Chen C-M, Lee Y-S, Chang K-H. Associations of oxidative phosphorylation-related genes with deep intracerebral hemorrhage in Taiwan. J Exp Neurosci. 2018;12:1179069518794517. https://doi.org/10.1177/117906... PMid:30150875 PMCid:PMC6104204.
 
29.
Bi R, Zhang W, Zhang DF, et al. Genetic association of the cytochrome c oxidase-related genes with Alzheimer’s disease in Han Chinese. Neuropsychopharmacology. 2018;43(11):2264-76. https://doi.org/10.1038/s41386... PMid:30054583 PMCid:PMC6135758.
 
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