Promoter Mutation Analysis of Long-Non-coding RNA RMRP Gene in Solid Tumors
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LETTER TO THE EDITOR
Promoter Mutation Analysis of Long-Non-coding RNA RMRP Gene in Solid Tumors Hyun Ji Son 1 & Ha Yoon Mo 1 & Eun Ji Choi 1 & Nam Jin Yoo 1 & Sug Hyung Lee 1 Received: 24 June 2019 / Accepted: 13 August 2019 # Arányi Lajos Foundation 2019
To the Editor: A recent study analyzed genome-wide non-coding sequences in breast cancers and found several promoter mutations in coding and non-coding genes [1]. Long noncoding RNAs (lncRNAs) are minimum transcript length of 200 bps and play important roles in many biological processes [2]. Dysregulation of lncRNAs has been found in many cancers and known to be related to cancer pathogenesis [2]. RNA component of mitochondrial RNA (RMRP) is an lncRNA that regulates both mitochondrial and ribosomal RNA processing [3]. Alterations of RMRP are involved in the development of a genetic disorder cartilage-hair dysplasia [3]. RMRP overexpression has been identified in many tumors and considered to have oncogenic functions [4, 5]. Also, somatic RMRP mutations in its promoter have been reported in breast cancers [1]. Functionally, RMRP expression in cells promotes cell proliferation and invasion, and inhibits cell death [4, 5]. RMRP promoter mutations in breast cancers increased RMRP expression and its enhanced recruitment of transcriptional activators, suggesting possible gain-of-function (oncogenic) activities [1]. To date, however, presence of RMRP promoter mutations in other solid tumors besides breast cancers remains unknown.
* Sug Hyung Lee [email protected] 1
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, Korea
In this study, human cancer tissues from 1366 patients from origins were analyzed (Table 1). Approval for this study was obtained from the Catholic University of Korea, College of Medicine’s institutional review board. Because RMRP promoter mutations in breast cancers have been focused on two regions (chromosome 9: 35658025–63 and 35,658,224) [1], we amplified them with two primer pairs by polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP) assay [6]. Overall, we detected RMRP somatic promoter mutations in 4 cases: two (Chr9:35,658,037dupA, Chr9: 35,658,174dupT) in gastric carcinomas, one (Chr9:35,658,167G > T) in a colon carcinoma and the other one (Chr9.35,658,015_35,658,031 dupCACGTCCTCAGCTTCAC) in a sarcoma (malignant fibrous histiocytoma). Neither of them (Table 1) overlapped with the mutations previously detected in breast cancers [1]. The mutations consisted of 3 duplication mutations and one point mutation. To confirm the mutation data, we repeated the DNA sequencing twice and found them to be consistent. There were no significant clinicopathologic parameters associated with the mutations including demographic and prognostic data. Although RMRP promoter mutation was found in breast cancers [1], its mutation in solid cancers remained undetermined. We identified RMRP promoter mutations in 3 different cancer types, indicating the mutations
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