Abstract

Treacle ribosome biogenesis factor 1 (TCOF1) plays a crucial role in multiple processes, including ribosome biogenesis, DNA damage response (DDR), mitotic regulation, and telomere integrity. However, its role in cancers remains unclear. We aimed to visualize the expression, prognostic, and mutational landscapes of TCOF1 across cancers and to explore its association with immune infiltration. In this work, we integrated information from TCGA and GEO to explore the differential expression and prognostic value of TCOF1. Then, the mutational profiles of TCOF1 in cancers were investigated. We further determined the correlation between TCOF1 and immune cell infiltration levels. Additionally, we determined correlations among certain immune checkpoints, microsatellite instability, tumor mutational burden (TMB), and TCOF1. Potential pathways of TCOF1 in tumorigenesis were analyzed as well. In general, tumor tissue had a higher expression level of TCOF1 than normal tissue. The prognostic value of TCOF1 was multifaceted, depending on type of cancer. TCOF1 was correlated with tumor purity, CD8+ T cells, CD4+ T cells, B cells, neutrophils, macrophages, and dendritic cells (DCs) in 6, 14, 16, 12, 20, 13, and 17 cancer types, respectively. TCOF1 might act on ATPase activity, microtubule binding, tubulin binding, and catalytic activity (on DNA), and participate in tumorigenesis through “cell cycle” and “cellular-senescence” pathways. TCOF1 could affect pan-cancer prognosis and was correlated with immune cell infiltration. “Cell cycle” and “cellular-senescence” pathways were involved in the functional mechanisms of TCOF1, a finding that awaits further experimental validation.

Highlights

  • The treacle ribosome biogenesis factor 1 (TCOF1) gene is located on the long arm of chromosome 5 at the 5q32-33.3 locus and encodes treacle phosphoprotein [1, 2]

  • The results showed that TCOF1 expression in tumors was significantly higher than in normal tissues in many cancers, including bladder, breast, cervical, colorectal, esophageal, gastric, head and neck, liver, lung, and ovarian, as well as in melanoma and lymphoma

  • Www.aging‐us.com expression was significantly higher in bladder urothelial carcinoma (BLCA), breast invasive carcinoma (BRCA), cervical squamous-cell carcinoma (CESC), endocervical adenocarcinoma (ECA), cholangiocarcinoma (CHOL), colon adenocarcinoma (COAD), esophageal carcinoma (ESCA), head and neck squamous-cell carcinoma (HNSC), clear-cell renal-cell carcinoma (CCRCC), papillary renal-cell carcinoma (PRCC), liver hepatocellular carcinoma (LIHC), lung adenocarcinoma (LUAD), lung squamous-cell carcinoma (LUSC), pheochromocytoma and paraganglioma (PCPG), rectal adenocarcinoma (READ), stomach adenocarcinoma (STAD), thyroid carcinoma (THCA), and uterine corpus endometrial carcinoma (UCEC)

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Summary

Introduction

The treacle ribosome biogenesis factor 1 (TCOF1) gene is located on the long arm of chromosome 5 at the 5q32-33.3 locus and encodes treacle phosphoprotein [1, 2]. TCOF1 was initially found as a gene related to Treacher Collins syndrome (TCS), a rare genetic disorder characterized by severe craniofacial defects, external ear deformation, and hearing impairment [3, 4]. TCOF1 has been reported to play crucial roles in multiple processes, including ribosome biogenesis [10], deoxyribonucleic acid (DNA) damage response (DDR) [11, 12], mitotic regulation [13], and telomere integrity [14, 15]. Given that TCOF1 participates in several key cellular processes, in this study we aimed to investigate the part it plays in human cancers

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