Vorechovsky, Igor - University of Southampton

个人简介

Having graduated in medicine from the Purkynje University Brno, he was trained in general Paediatrics and specialised in Clinical Genetics. He completed his PhD 1989 in molecular genetics. He held clinical or research positions in the Institute of Child Health, Paterson Institute, Karolinska Institute and academic positions in UCL and Southampton University. Dr Vorechovsky leads a group that investigates molecular mechanisms of predisposition to genetic disease at the level of RNA processing and their repair using non-genetic means. His past achievements include, for example, isolation of the gene for the first described immunodeficiency X-linked agammaglobulinaemia (Nature 361:226-233, Science 261:355-368) and identification of genes and critical mutations underlying several cancer-predisposing genetic disorders (Cell 85: 841-851, Nature Genetics 17:96-99). He is a co-author of >100 peer-reviewed articles, cited altogether >5,000x. Potential students, post-doctoral scientists or clinician scientists who are interested in joining his group are encouraged to contact Dr Vorechovsky.

研究领域

Eukaryotic genes contain intervening sequences or introns that must be removed from precursor messenger RNA (pre-mRNA) to ensure correct gene expression. This process is known as pre-mRNA splicing and is mediated by conserved sequences at the 5’ and 3’ splice sites. These signals do not contain sufficient information to accurately identify gene coding sequences and many additional sequence features exist in the pre-mRNA that navigate the splicing machinery to the appropriate location. These features include exonic and intronic enhancer and silencer elements, which activate and repress inclusion of coding sequences in mRNA and are involved in numerous structural interactions and ligand binding. Our group is interested in identifying molecular mechanisms responsible for genetic susceptibility to complex genetic diseases at the level of pre-mRNA splicing. DNA variants in the human genome often influence efficiency of intron removal and downstream gene expression pathways, such as transcription and translation. Understanding how disease-predisposing variants interact with gene expression machinery is likely to be a prerequisite for future preventive and therapeutic approaches, such as antisense strategies that efficiently repair incorrectly spliced gene segments in vitro (Nucleic Acids Res. 2011 May 23) and in vivo (Genes Dev. 24:1634-1644, 2010).

近期论文

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A birth of bipartite exon by intragenic deletion - Nozu, Kandai, Iijima, Kazumoto, Igarashi, Toru, Yamada, Shiro, Kralovicova, Jana, Nozu, Yoshimi, Yamamura, Tomohiko, Minamikawa, Shogo, Morioka, Ichiro, Ninchoji, Takeshi, Kaito, Hiroshi, Nakanishi, Koichi and Vorechovsky, Igor Published:2017Publication:Molecular Genetics and Genomic MedicinePage Range:1-21 Antisense oligonucleotides modulating activation of a nonsense-mediated mRNA decay switch exon in the ATM gene - Kralovicova, Jana, Moreno, Pedro M.D., Cross, Nicholas, Pego, Ana Paula and Vorechovsky, Igor Published:2016Publication:Nucleic Acid TherapeuticsVolume:26, (6)Page Range:392-400doi:10.1089/nat.2016.0635 Cryptic exon activation in SLC12A3 in Gitelman syndrome - Nozu, Kandai, Nozu, Yoshimi, Nakanishi, Keita, Konomoto, Takao, Horinouchi, Tomoko, Shono, Akemi, Morisada, Naoya , Minamikawa, Shogo, Yamamura, Tomohiko, Fujimura, Junya, Nakanishi, Koichi, Ninchoji, Takeshi, Kaito, Hiroshi, Morioka, Ichiro, Taniguchi-Ikeda, Mariko , Vorechovsky, Igor and Iijima, Kazumoto Published:2016Publication:Journal of Human GeneticsVolume:62, (2)Page Range:335-337doi:10.1038/jhg.2016.129 Stoichiometries of U2AF35, U2AF65 and U2 snRNP reveal new early spliceosome assembly pathways - Chen, Li, Weinmeister, Robert, Kralovicova, Jana, Eperon, Lucy P., Vorechovsky, Igor, Hudson, Andrew J. and Eperon, Ian C. Published:2016Publication:Nucleic Acids ResearchPage Range:1-17doi:10.1093/nar/gkw860 Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons - Kralovicova, Jana and Vorechovsky, Igor Published:2016Publication:Nucleic Acids ResearchVolume:45, (1)Page Range:417-434doi:10.1093/nar/gkw733PMID:27566151