Genomic imprinting in mouse blastocysts is predominantly associated with H3K27me3

Autor: Laura Santini, Florian Halbritter, Fabian Titz-Teixeira, Toru Suzuki, Maki Asami, Xiaoyan Ma, Julia Ramesmayer, Andreas Lackner, Nick Warr, Florian Pauler, Simon Hippenmeyer, Ernest Laue, Matthias Farlik, Christoph Bock, Andreas Beyer, Anthony C. F. Perry, Martin Leeb

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

In most mammals, imprinted genes contain epigenetic marks that differ in each parental genome and control their parent-of-origin-specific expression. Here, the authors map imprinted genes in mouse preimplantation embryos and find that imprinted gene

Externí odkaz: https://doaj.org/article/80a4a9c1e8f242dab49a92d2bed3b3ac

Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1.

Autor: Nick Warr, Debora Bogani, Pam Siggers, Rachel Brixey, Hilda Tateossian, Asha Dopplapudi, Sara Wells, Michael Cheeseman, Ying Xia, Harry Ostrer, Andy Greenfield

Publikováno v: PLoS ONE, Vol 6, Iss 5, p e19572 (2011)

In mammals, the Y chromosome is a dominant male determinant, causing the bipotential gonad to develop as a testis. Recently, cases of familial and spontaneous 46,XY disorders of sex development (DSD) have been attributed to mutations in the human gen

Externí odkaz: https://doaj.org/article/90c4c456a12b4bcdaab8107f57443116

The Maestro (Mro) gene is dispensable for normal sexual development and fertility in mice.

Autor: Lee Smith, John Willan, Nick Warr, Frances A Brook, Michael Cheeseman, Richard Sharpe, Pam Siggers, Andy Greenfield

Publikováno v: PLoS ONE, Vol 3, Iss 12, p e4091 (2008)

The mammalian gonad arises as a bipotential primordium from which a testis or ovary develops depending on the chromosomal sex of the individual. We have previously used DNA microarrays to screen for novel genes controlling the developmental fate of t

Externí odkaz: https://doaj.org/article/874626d44c6a47d0ab62ac88e316edf9

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

Autor: Michelle Simon, Matthew Mackenzie, Sare Betul Kaygusuz, Zehra Yavas Abali, Busra Gurpinar Tosun, Hatice Kocak Eker, Nihal Hatipoglu, Sukran Poyrazoglu, Didem Helvacioglu, Mehmet Eltan, Firdevs Bas, Gozde Yesil, Gul Direk, Tuba Seven Menevse, Abdullah Bereket, Andy Greenfield, Lydia Teboul, Dilek Çiçek, Tulay Guran, Richard Reeves, Serap Turan, Nick Warr, Feyza Darendeliler

Publikováno v: European Journal of Endocrinology

Context Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa57bd6bd3a6729eeb372c3600715ed
https://avesis.kayseri.edu.tr/publication/details/58cbde97-66b0-4e72-970c-81619c50e2ea/oai

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Autor: Tiphanie Merel, Matthieu Peycelon, Serge Nef, Daisylyn Senna Tan, Evgenia Globa, Rita Bertalan, Inas Mazen, John C. Achermann, Andy Greenfield, Romain Le Ru, Jean-Pierre Siffroi, Anne Jorgensen, Ken McElreavey, Ágnes Sallai, Brigitte Mignot, Ralf Jauch, Laetitia Martinerie, Raissa G. G. Kay, Gerard S. Conway, Joelle Bignon-Topalovic, Juliane Léger, Nick Warr, Denis Houzelstein, Federica Buonocore, Anu Bashamboo, Raja Brauner, Caroline Eozenou, Lionel Van Maldergem, Yuliya Shcherbak, Jean-Claude Carel

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-019-0606-y⟩
Genetics in Medicine (2019)
Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩

International audience; PURPOSE:XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b8f7f93f0dd958aeec82a17aa535799
https://hal-pasteur.archives-ouvertes.fr/pasteur-02376177