Azken urteetan gertatu den genomen ikerketarako teknologien garapen ikaragarriak zientzialariek genoma, transkriptoma eta proteomaren inguruan zuten ikuspegia errotik aldatzea eragin du. DNAren eta RNAren sekuentziazio masiboei esker, ordura arte “DNA zabor” bezala ezagututako guneetatik transkribatutako proteinarik kodetzen ez duten milaka RNA ez-kodetzaile (ncRNA) detektatu dira, genomen inguruko ikuspegi proteozentrikoa alboratuz eta RNA ez-kodetzaileak, bereziki luzeak (long non-coding RNA, lncRNA), ikertzaileen fokuan jarriz. Era berean, azken ikerketek geneen adierazpenerako ezinbestekoak diren transkripzio- eta itzulpen-prozesuen erregulazioak duen garrantzia ere agerian jarri dute. Erregulazio-mekanismo nagusietako bat DNAn, RNAn eta proteinetan aurkitu diren marka biokimiko itzulgarriek osatzen dute; eta horien ikerketak epigenomika, epitranskriptomika eta epiproteomika izeneko biologiaren atal berrien sorrera ekarri du. Hala ere, ikerketa gehienak epigenoma eta epiproteomaren inguruan egin direnez, marka horien ezarpenak RNAn duen eraginak ezezaguna izaten jarraitzen du. Emaitza hauek tarteko, zalantzarik gabe RNAren biologiaren esparruan galdera asko dago oraindik erantzuteko. Hori dela-eta, berrikuspen honetan aipatutako RNAren biologiaren bi esparru berrietan fokuratu gara, horien inguruan ezaguna dena jasoz eta giza gaixotasunekin, zehazki leuzemia mieloide akutuarekin (Acute myeloid leukemia-AML), duten harremana laburbilduz. Oraindik alor ezezagunak izanik, ikertzaileek tamaina eta konplexutasun handiko erronka dute aurrean RNAren biologiaren mundu ilun hau argitu ahal izateko eta emaitza hauek arlo klinikora bideratzeko.

Gako-hitzak: RNA, lncRNA, Epitranskriptoma, AML

The development of Next Generation Sequencing (NGS) technologies has made scientists radically change their vision about the genome, transcriptome and proteome. Massive DNA and RNA sequencing analyses have detected thousands of novel non-coding RNAs (ncRNAs) transcribed from genome regions known earlier as “junk DNA”. These results have led scientists to put aside the proteocentric view of genomics and have highlighted the relevance of non-coding transcripts, especially of long non-coding RNAs (lncRNAs). Besides, recent research reveals the importance of regulation of transcription and translation processes, which are essential to gene expression. One of these principal regulatory mechanisms is based on the reversible biochemical modifications found in DNA, RNA and proteins and their research have led to new biological mechanisms called epigenomics, epitranscriptomics or epiproteomics. However, most of this research has been conducted on DNA and proteins, and thus, the biological effect of these modifications in RNA remains unknown. Considering this, there are many questions to be answered in the context of RNA biology. In this review we will focus on the knowledge about the biology of lncRNAs and epitranscriptome, as well as their link to human diseases, in particular with Acute Myeloid Leukemia (AML). Undoubtedly, scientists have a great challenge to decipher the mysterious world of RNA biology and be able to transfer the results obtained in this area to the clinical practice of human tumors and diseases.

Keywords: RNA, lncRNA, epitranscriptome and AML