A Tissue-Specific Decrease in the Pre-mRNA Level of L1- and Alu-Containing Alleles of Human Genes

S. V. Ustyugova,# A. L. Amosova, Yu. B. Lebedev, and E. D. Sverdlov

# Phone: +7 (095) 330-6329; fax: +7 (095) 330-6538; e-mail: sveta@humgen.siobc.ras.ru

Shemyakin–Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, ul. Miklukho-Maklaya 16/10, Moscow, 117997 Russia

LINE1 and Alu retroelements occupy approximately 17 and 13% of the human genome, respectively. They include the evolutionarily youngest element groups Ta-L1, AluYa5, and AluYb8, many inserts of which are polymorphous in the Homo sapiens population. Despite the data on the ability of L1 and Alu elements to cause various modifications of the genome, the effects of these retroelements on gene expression have not yet been studied. Using the RT PCR method, we analyzed the pre-mRNA (heterogeneous nuclear RNA) content of allele pairs of four genes in five human cell lines heterozygous with respect to intronic inserts of L1 and Alu elements. We showed for the first time a tissue-specific decrease in the pre-mRNA content of the gene allele bearing L1 or Alu inserts relative to the other allele of the same gene lacking the retroelement.

Key words: human cell lines, human genome, polymorphous inserts , retroelements LINE1 and Alu

Received July 27, 2005; in final form, July 28, 2005

Russian Journal of Bioorganic Chemistry 2006, 32 (1):93-95