Enzymatic approaches and bisulfite sequencing cannot distinguish between 5-methylcytosine and 5-hydroxymethylcytosine in DNA

Autor: Colm Nestor, Alexey Ruzov, Richard R. Meehan, Donncha S. Dunican

Publikováno v: BioTechniques, Vol 48, Iss 4, Pp 317-319 (2010)

DNA cytosine methylation (5mC) is highly abundant in mammalian cells and is associated with transcriptional repression. Recently, hydroxymethylcytosine (hmC) has been detected at high levels in certain human cell types; however, its roles are unknown

Externí odkaz: https://doaj.org/article/2a328ae8babc4a748dff5428917b33c5

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Autor: Margaret F. Lippincott, Diane Lucente, Catarina M. Seabra, Shelagh Joss, Hemant Bengani, Angela Lek, Klaus W. Ruprecht, Jenny Jing, Nicholas Katsanis, Joe Rainger, Tammy Kammin, Cynthia C. Morton, Ravikumar Balasubramanian, Chie Hee Cho, Peter L. Jones, Alexandra Silva, Ianina Scheer, Jennifer R. Law, Nobuhiko Okamoto, Stephanie B. Seminara, William F. Crowley, Joseph A. Marsh, Jeanie B. Tryggestad, Markus Zweier, Benjamin Currall, Veronica van Heyningen, Serkan Erdin, Natalie D. Shaw, Michael E. Talkowski, John Graham, Daniel G. MacArthur, Kathleen A. Williamson, Morad Ansari, Angela M. Kaindl, Nirav J. Patel, Jacqueline K. Rainger, Zachary A. Kupchinsky, Koh-ichiro Yoshiura, Kaitlin E. Samocha, Angela E. Lin, Daisuke Sato, Bart Loeys, Malik Nassan, Sylvia S. Singh, Takako I. Jones, Eric C. Liao, Donncha S. Dunican, Claudia Cesaretti, Lisa A. Schimmenti, Janet E. Hall, Christina Jacobsen, Ryan L. Collins, Jill Clayton Smith, Alexei Stortchevoi, Erica E. Davis, Tatiana Pineda Buitrago, Shahrin Pereira, Masato Shino, Steven A. Moore, Wolfgang Mühlbauer, Anita Rauch, James F. Gusella, Colby Chiang, Nalton F. Ferraro, José Elías García-Ortiz, David R. FitzPatrick, Alain Verloes, Katharina Steindl, Jodi D. Hoffman, Yu An, Lacey Plummer, Benjamin Brasseur, Monkol Lek, Richard R. Meehan, Orlando Perez Silva, Harrison Brand, Steven D. Chernausek, Jason R. Willer

Publikováno v: Nature Genetics, 49, 2, pp. 238-248
Nature genetics
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K, Gusella, J F, Marsh, J A, Graham Jr, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley Jr, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743
Nature Genetics, 49, 238-248
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K-I, Gusella, J F, Marsh, J A, Graham, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68d8df63ca8f32d22441b77159f6e8f
https://hdl.handle.net/2066/175555

Promoter DNA methylation couples genome-defence mechanisms to epigenetic reprogramming in the mouse germline

Autor: Ian R. Adams, M. Azim Surani, Judith Reichmann, Richard R. Meehan, James P. Reddington, Colm E. Nestor, Wolf Reik, Donncha S. Dunican, Jamie A. Hackett, Miguel R. Branco

Publikováno v: Development. 139:3623-3632

Mouse primordial germ cells (PGCs) erase global DNA methylation (5mC) as part of the comprehensive epigenetic reprogramming that occurs during PGC development. 5mC plays an important role in maintaining stable gene silencing and repression of transpo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec6a66ab29dd73824a55287d63be838
https://doi.org/10.1242/dev.081661

Lsh Is Essential for Maintaining Global DNA Methylation Levels in Amphibia and Fish and Interacts Directly with Dnmt1

Autor: Donncha S. Dunican, Sari Pennings, Richard R. Meehan

Publikováno v: BioMed Research International, Vol 2015 (2015)
Dunican, D S, Pennings, S & Meehan, R R 2015, ' Lsh is essential for maintaining global DNA methylation levels in amphibia and fish and interacts directly with Dnmt1 ', BioMed Research International . https://doi.org/10.1155/2015/740637
BioMed Research International

Eukaryotic genomes are methylated at cytosine bases in the context of CpG dinucleotides, a pattern which is maintained through cell division by the DNA methyltransferase Dnmt1. Dramatic methylation losses are observed in plant and mouse cells lacking

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b88da989523b0d2c5870db6861b91
https://doaj.org/article/9fd7e1d7f0c64b66b1c7e3a794b5fd6b

Rapid reprogramming of epigenetic and transcriptional profiles in mammalian culture systems

Autor: Colm E, Nestor, Raffaele, Ottaviano, Diana, Reinhardt, Hazel A, Cruickshanks, Heidi K, Mjoseng, Rhoanne C, McPherson, Antonio, Lentini, John P, Thomson, Donncha S, Dunican, Sari, Pennings, Stephen M, Anderton, Mikael, Benson, Richard R, Meehan

Publikováno v: Genome Biology

Background The DNA methylation profiles of mammalian cell lines differ from those of the primary tissues from which they were derived, exhibiting increasing divergence from the in vivo methylation profile with extended time in culture. Few studies ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bca42bb5ef8a51cef37dd00cbdde200c
https://pubmed.ncbi.nlm.nih.gov/25648825