Schertzer, Michael Jouravleva, Karina Perderiset, Mylene Dingli, Florent Loew, Damarys Le Guen, Tangui Bardoni, Barbara Jean-Pierre de Villartay Patrick Revy Londoño-Vallejo, Arturo
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Published in
Nucleic Acids Research
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase first identified in Mus musculus as being responsibl...
Coumoul, Xavier Shukla, Vivek Li, Cuiling Wang, Rui-Hong Deng, Chu-Xia
Published in
Nucleic Acids Research
RNA interference (RNAi)-mediated gene knockdown is a potent approach for studying gene function. We have previously reported a plasmid-based, tamoxifen-inducible gene knockdown system in cultured cells using a combined RNAi and Cre-LoxP system. Here, we validate this system in mouse and show that it can be used to suppress the expression of an endo...
Thomassin, Hélène Kress, Clémence Grange, Thierry
Published in
J Endod
Here we present MethylQuant, a novel method that allows accurate quantification of the methylation level of a specific cytosine within a complex genome. This method relies on the well-established treatment of genomic DNA with sodium bisulfite, which converts cytosine into uracil without modifying 5-methyl cytosine. The region of interest is then PC...
Gattiker, Alexandre Niederhauser-Wiederkehr, Christa Moore, James Hermida, Leandro Primig, Michael
Published in
J Endod
We report a novel release of the GermOnline knowledgebase covering genes relevant for the cell cycle, gametogenesis and fertility. GermOnline was extended into a cross-species systems browser including information on DNA sequence annotation, gene expression and the function of gene products. The database covers eight model organisms and Homo sapien...
Karicheva, O. Z. Kolesnikova, O. A. Schirtz, T. Vysokikh, M. Y. Mager-Heckel, A.-M. Anne Lombes Boucheham, A. Krasheninnikov, I. A. Martin, R. P. Entelis, N.
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Published in
Nucleic Acids Research
Mutations in human mitochondrial DNA are often associated with incurable human neuromuscular diseases. Among these mutations, an important number have been identified in tRNA genes, including 29 in the gene MT-TL1 coding for the tRNA(Leu(UUR)). The m.3243A>G mutation was described as the major cause of the MELAS syndrome (mitochondrial encephalomyo...
Komarova, Anastassia V Real, Eléonore Borman, Andrew M Brocard, Michèle England, Patrick Tordo, Noël Hershey, John W B Kean, Katherine M Jacob, Yves
Published in
Nucleic Acids Research
Viral proteins are frequently multifunctional to accommodate the high density of information encoded in viral genomes. Matrix (M) protein of negative-stranded RNA viruses such as Rhabdoviridae is one such example. Its primary function is virus assembly/budding but it is also involved in the switch from viral transcription to replication and the con...
Marilley, Monique Milani, Pascale Thimonier, Jean Rocca-Serra, José
Published in
J Endod
The replication origins (ORIs) of Schizosaccharomyces pombe, like those in most eukaryotes, are long chromosomal regions localized within A+T-rich domains. Although there is no consensus sequence, the interacting proteins are strongly conserved, suggesting that DNA structure is important for ORI function. We used atomic force microscopy in solution...
Shestakova, Elena A Mansuroglu, Zeyni Mokrani, Houda Ghinea, Nicolae Bonnefoy, Eliette
Published in
J Endod
Pericentromeric gamma-satellite DNA is organized in constitutive heterochromatin structures. It comprises a 234 bp sequence repeated several thousands times surrounding the centromeric sequence of all murine chromosomes. Potential binding sites for transcription factor Yin Yang 1 (YY1), a repressor or activator of several cellular and viral genes, ...
Wang, Gary P Garrigue, Alexandrine Ciuffi, Angela Ronen, Keshet Leipzig, Jeremy Berry, Charles Lagresle-Peyrou, Chantal Benjelloun, Fatine Hacein-Bey-Abina, Salima Fischer, Alain
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Published in
J Endod
Gene transfer has been used to correct inherited immunodeficiencies, but in several patients integration of therapeutic retroviral vectors activated proto-oncogenes and caused leukemia. Here, we describe improved methods for characterizing integration site populations from gene transfer studies using DNA bar coding and pyrosequencing. We characteri...
Landers, Miguel Bancescu, Daria L Le Meur, Elodie Rougeulle, Claire Glatt-Deeley, Heather Brannan, Camilynn Muscatelli, Françoise Lalande, Marc
Published in
J Endod
Most cases of Angelman syndrome (AS) result from loss or inactivation of ubiquitin protein ligase 3A (UBE3A), a gene displaying maternal-specific expression in brain. Epigenetic silencing of the paternal UBE3A allele in brain appears to be mediated by a non-coding UBE3A antisense (UBE3A-ATS). In human, UBE3A-ATS extends approximately 450 kb to UBE3...
