title: [The functional analysis of polymorphic insertions of Alu retroelements at acute lymphoblastic leukemia].
abstract: Human genome variability observed within patient cohorts is considered as a goal of functional genomics essential for personalized medicine progress. In the current research we implement functional analysis of 31 polymorphic Alu insertions located within gene introns for individual genomes of patients with acute lymphoblastic leukemia (ALL). As a result we demonstrated a decrease of the primary transcripts content for 21 Alu-containing alleles. The most strong inhibitory effect of 10 Alu insertions was observed in both mononuclear blood cells of healthy donors and B-lymphoblasts of ALL patients. Allele frequencies of three Alu insertions that are located in MEF2C (two of them) and TAX1BP1 genes significantly differ (p-value 0.027. 0.052. 0.014 accordingly) between cohorts of healthy donors and ALL patients. Prolong influence of the Alu insertions on intracellular content of mature mRNA was studied for corresponding allele of TARBP1 gene.
authors.forename: A Iu
authors.initials: AIu
authors.lastname: Komkov
authors.forename: M A
authors.initials: MA
authors.lastname: Maschan
authors.forename: V I
authors.initials: VI
authors.lastname: Shvets
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Lebedev
mesh_terms: D000328:Adult; D000483:Alleles; D020087:Alu Elements / Q000235:genetics*; D001854:Bone Marrow Cells / Q000737:chemistry; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007438:Introns / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000737:chemistry; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008297:Male; D016254:Mutagenesis, Insertional; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics; D012426:Russia / Q000208:ethnology; D014158:Transcription, Genetic; D000099253:Trans-Activation Responsive RNA-Binding Protein
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; C578040:MEF2C protein, human; C071598:TARBP1 protein, human; D000099253:Trans-Activation Responsive RNA-Binding Protein; C120635:TAX1BP1 protein, human