Sequence conservation and variability of imprinting in the Beckwith–Wiedemann syndrome gene cluster in human and mouse

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dc.contributor.author El-Maarri, Osman
dc.contributor.author Paulsen, Martina
dc.contributor.author Engemann, Sabine
dc.contributor.author Strodicke, Martin
dc.contributor.author Franck, Olivia
dc.contributor.author Davies, Karen
dc.contributor.author Reinhardt, Richard
dc.contributor.author Reik, Wollf
dc.contributor.author Walter, Jorn
dc.date.accessioned 2017-11-23T10:30:59Z
dc.date.available 2017-11-23T10:30:59Z
dc.date.copyright 2000 en_US
dc.date.issued 2017-11-23
dc.identifier.issn 1460-2083 en_US
dc.identifier.uri http://hdl.handle.net/10725/6655
dc.description.abstract In human and mouse most imprinted genes are arranged in chromosomal clusters. This linked organization suggests coordinated mechanisms controlling imprinted expression. We have sequenced 250 kb in the centre of the mouse imprinting cluster on distal chromosome 7 and compared it with the orthologous Beckwith–Wiedemann gene cluster on human chromosome 11p15.5. This first comparative imprinting cluster analysis revealed a high structural and functional conservation of the six orthologous genes identified. However, several striking differences were also discovered. First, compared with the mouse the human sequence is ∼40% longer, mostly due to insertions of two large repetitive clusters. One of these clusters encompasses an additional gene coding for a homologue of the ribosomal protein L26. Second, pronounced blocks of unique direct repeats characteristic of imprinted genes were only found in the human sequence. Third, two of the orthologous gene pairs Tssc4/TSSC4 and Ltrpc5/LTRPC5 showed apparent differences in imprinting between human and mouse, whereas others like Tssc6/TSSC6 were not imprinted in either organism. Together these results suggest a significant functional and structural variability in the centre of the imprinting cluster. Some genes escape imprinting in both organisms whereas others exhibit tissue- and species-specific imprinting. Hence the control of imprinting in the cluster appears to be a highly dynamic process under fast evolutionary adaptation. Intriguingly, whereas imprinted genes within the cluster contain CpG islands the non-imprinted Ltrpc5 and Tssc6/TSSC6 do not. This and additional comparisons with other imprinted and non-imprinted regions suggest that CpG islands are key features of imprinted domains. en_US
dc.language.iso en en_US
dc.title Sequence conservation and variability of imprinting in the Beckwith–Wiedemann syndrome gene cluster in human and mouse en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal Human Molecular Genetics en_US
dc.journal.volume 9 en_US
dc.journal.issue 2 en_US
dc.article.pages 1829-1841 en_US
dc.keywords Cpg islands en_US
dc.keywords Genes en_US
dc.keywords Imprinting (psychology) en_US
dc.keywords Mice en_US
dc.keywords Gene cluster en_US
dc.keywords Pan-hematopoietic expression protein en_US
dc.identifier.doi https://doi.org/10.1093/hmg/9.12.1829 en_US
dc.identifier.ctation Paulsen, M., El-Maarri, O., Engemann, S., Strödicke, M., Franck, O., Davies, K., ... & Walter, J. (2000). Sequence conservation and variability of imprinting in the Beckwith–Wiedemann syndrome gene cluster in human and mouse. Human molecular genetics, 9(12), 1829-1841. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://academic.oup.com/hmg/article/9/12/1829/578321 en_US
dc.author.affiliation Lebanese American University en_US

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