Imprinted X chromosome inactivation in marsupials : The paternal X arrives at the egg with a silent DNA methylation profile
Milton, Ashley M. (The University of New South Wales)
Marin Gual, Laia (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Lister, Nicholas (The University of New South Wales)
McIntyre, Kim L. (The University of New South Wales)
Grady, Patrick G. S. (University of Connecticut)
Laird, Melanie K. (University of Otago)
Bond, Donna M. (University of Otago)
Hore, Timothy A. (University of Otago)
O'Neill, Rachel J. (University of Connecticut)
Pask, Andrew J. (The University of Melbourne)
Renfree, Marilyn B (The University of Melbourne)
Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Waters, Paul D (The University of New South Wales)

Data:	2024
Resum:	This research examines the contrasting mechanisms of eutherian and marsupial X chromosome inactivation (XCI) by investigating one of the key differences: paternal imprinting in marsupials. Analysis of DNA methylation patterns on the marsupial X chromosome during spermatogenesis revealed that genes on the paternal X chromosome exhibit a DNA methylation profile akin to the "silent" profile of genes on inactive X chromosomes in female somatic cells. This observation suggests a preexisting, silent DNA methylation landscape on the paternal X chromosome upon fertilization, which we hypothesize is the long sought-after imprint governing paternal XCI in marsupials. X chromosome inactivation (XCI) is an epigenetic process that results in the transcriptional silencing of one X chromosome in the somatic cells of females. This phenomenon is common to both eutherian and marsupial mammals, but there are fundamental differences. In eutherians, the X chosen for silencing is random. DNA methylation on the eutherian inactive X is high at transcription start sites (TSSs) and their flanking regions, resulting in universally high DNA methylation. This contrasts XCI in marsupials where the paternally derived X is always silenced, and in which DNA methylation is low at TSSs and flanking regions. Here, we examined the DNA methylation status of the tammar wallaby X chromosome during spermatogenesis to determine the DNA methylation profile of the paternal X prior to and at fertilization. Whole genome enzymatic methylation sequencing was carried out on enriched flow-sorted populations of premeiotic, meiotic, and postmeiotic cells. We observed that the X displayed a pattern of DNA methylation from spermatogonia to mature sperm that reflected the inactive X in female somatic tissue. Therefore, the paternal X chromosome arrives at the egg with a DNA methylation profile that reflects the transcriptionally silent X in adult female somatic tissue. We present this epigenetic signature as a candidate for the long sought-after imprint for paternal XCI in marsupials.
Ajuts:	Agencia Estatal de Investigación PID2020-112557GB-I00 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-00122
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	DNA methylation ; Marsupial ; Imprinting ; X chromosome inactivation ; Spermatogenesis
Publicat a:	Proceedings of the National Academy of Sciences of the United States of America, Vol. 121, Num. 36 (August 2024) , art. e2412185121, ISSN 1091-6490

DOI: 10.1073/pnas.2412185121
PMID: 39190362

6 p, 721.8 KB

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