Evidence map›Paper›PMID 24655352›Full record

ArticleBMC genomics2014

Cis-regulatory elements are harbored in Intron5 of the RUNX1 gene.

Boris Rebolledo-Jaramillo, Ricardo A Alarcon, Valentina I Fernandez, Soraya E Gutierrez

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Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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4 authors.

Boris Rebolledo-Jaramillo
Ricardo A Alarcon
Valentina I Fernandez
Soraya E GutierrezDepartamento de Bioquimica y Biologia Molecular, Facultad de Ciencias Biologicas, Universidad de Concepcion, Concepcion, Chile. sgutierr@udec.cl.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHuman RUNX1 gene is one of the most frequent target for chromosomal translocations associated with acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). The highest prevalence in AML is noted with (8; 21) translocation; which represents 12 to 15% of all AML cases. Interestingly, all the breakpoints mapped to date in t(8;21) are clustered in intron 5 of the RUNX1 gene and intron 1 of the ETO gene. No homologous sequences have been found at the recombination regions; but DNase I hypersensitive sites (DHS) have been mapped to the areas of the genes involved in t(8;21). Presence of DHS sites is commonly associated with regulatory elements such as promoters, enhancers and silencers, among others.

resultsIn this study we used a combination of comparative genomics, cloning and transfection assays to evaluate potential regulatory elements located in intron 5 of the RUNX1 gene. Our genomic analysis identified nine conserved non-coding sequences that are evolutionarily conserved among rat, mouse and human. We cloned two of these regions in pGL-3 Promoter plasmid in order to analyze their transcriptional regulatory activity. Our results demonstrate that the identified regions can indeed regulate transcription of a reporter gene in a distance and position independent manner; moreover, their transcriptional effect is cell type specific.

conclusionsWe have identified nine conserved non coding sequence that are harbored in intron 5 of the RUNX1 gene. We have also demonstrated that two of these regions can regulate transcriptional activity in vitro. Taken together our results suggest that intron 5 of the RUNX1 gene contains multiple potential cis-regulatory elements.

Indexed as

AnimalsChromosomes, Human, Pair 21Chromosomes, Human, Pair 8Core Binding Factor Alpha 2 SubunitDeoxyribonuclease IHeLa CellsHep G2 CellsHL-60 CellsHumansIntronsJurkat CellsMicePromoter Regions, GeneticRatsRegulatory Sequences, Nucleic AcidTranslocation, GeneticCore Binding Factor Alpha 2 SubunitDeoxyribonuclease I

Identifiers

PMID24655352
PMCPMC3984029

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.