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1.
Bioorg Khim ; 39(4): 466-76, 2013.
Artigo em Russo | MEDLINE | ID: mdl-24707728

RESUMO

The activity of retroelements is one of the factors leading to genetic variability of the modern humans. Insertions of retroelements may result in alteration of gene expression and functional diversity between cells. In recent years an increasing amount of data indicating an elevated level of retroelements' mobilisation in some human and animal tissues has been reported. Therefore, the development of a system for the detection of somatic retroposition events is required. Here we describe a novel approach to the whole-genome identification of somatic retroelemts' insertions in human genome. The developed approach was applied for the comparisons of somatic mosaicism levels in two tissues of the investigated individual. A total of 3410 insertions of retroelements belonging to AluYa5 subfamily were identified.


Assuntos
Elementos Alu/genética , Elementos de DNA Transponíveis/genética , Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
2.
Bioorg Khim ; 38(3): 351-64, 2012.
Artigo em Russo | MEDLINE | ID: mdl-22997707

RESUMO

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.


Assuntos
Elementos Alu/genética , Frequência do Gene/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Íntrons/genética , Proteínas de Domínio MADS/genética , Fatores de Regulação Miogênica/genética , Proteínas de Neoplasias/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adulto , Alelos , Células da Medula Óssea/química , Estudos de Casos e Controles , Criança , Pré-Escolar , Primers do DNA/química , Primers do DNA/genética , Feminino , Marcadores Genéticos/genética , Genoma Humano , Humanos , Lactente , Leucócitos Mononucleares/química , Fatores de Transcrição MEF2 , Masculino , Mutagênese Insercional , Proteínas Nucleares/genética , Polimorfismo Genético , Proteínas de Ligação a RNA/genética , Federação Russa/etnologia , Transcrição Gênica
3.
Bioorg Khim ; 35(6): 779-88, 2009.
Artigo em Russo | MEDLINE | ID: mdl-20208577

RESUMO

The ascertainment of the rates and driving forces of human genome evolution along with the genetic diversity of populations or separate population groups remains a topical problem of fundamental and applied genomics. According to the results of comparative analysis, the most numerous human genome structure peculiarities are connected with the distribution of mobile genetic retroelements - LTR, LINE1, SVA, and Alu repeats. Due to the wide distribution in different genome loci, conversed retropositional activity, and the retroelements regulatory potential, let us regard them as one of the significant evolutionary driving forces and the source of human genome variability. In the current review, we summarize published data and recent results of our research aimed at the analysis of the evolutionary impact of the young retroelements group on the function and variability of the human genome. We examine modern approaches of the polygenomic identification of polymorphic retroelements inserts. Using an original Internet resource, we analyze special features of the genomic polymorphic inserts of Alu repeats. We thoroughly characterize the strategy of large-scale functional analysis of polymorphic retroelement inserts. The presented results confirm the hypothesis of the roles of retroelements as active cis regulatory elements that are able to modulate surrounding genes.


Assuntos
Evolução Molecular , Regulação da Expressão Gênica/fisiologia , Genoma Humano/fisiologia , Retroelementos/fisiologia , Humanos
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