Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrains telomerase activity.

Guardado en:

Detalles Bibliográficos
Autores principales:	Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/fcda6dd35e9949f888622bfe0a813011
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:fcda6dd35e9949f888622bfe0a813011
record_format	dspace
spelling	oai:doaj.org-article:fcda6dd35e9949f888622bfe0a8130112021-12-02T11:36:20ZBi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening10.1038/s41467-021-21878-x2041-1723https://doaj.org/article/fcda6dd35e9949f888622bfe0a8130112021-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21878-xhttps://doaj.org/toc/2041-1723Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrains telomerase activity.Ryan M. BaxleyWendy LeungMegan M. SchmitJacob Peter MatsonLulu YinMarissa K. OramLiangjun WangJohn TaylorJack HedbergColette B. RogersAdam J. HarveyDebashree BasuJenny C. TaylorAlistair T. PagnamentaHelene DreauJude CraftElizabeth OrmondroydHugh WatkinsEric A. HendricksonEmily M. MaceJordan S. OrangeHideki AiharaGrant S. StewartEdward BlairJeanette Gowen CookAnja-Katrin BielinskyNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Ryan M. Baxley Wendy Leung Megan M. Schmit Jacob Peter Matson Lulu Yin Marissa K. Oram Liangjun Wang John Taylor Jack Hedberg Colette B. Rogers Adam J. Harvey Debashree Basu Jenny C. Taylor Alistair T. Pagnamenta Helene Dreau Jude Craft Elizabeth Ormondroyd Hugh Watkins Eric A. Hendrickson Emily M. Mace Jordan S. Orange Hideki Aihara Grant S. Stewart Edward Blair Jeanette Gowen Cook Anja-Katrin Bielinsky Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
description	Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrains telomerase activity.
format	article
author	Ryan M. Baxley Wendy Leung Megan M. Schmit Jacob Peter Matson Lulu Yin Marissa K. Oram Liangjun Wang John Taylor Jack Hedberg Colette B. Rogers Adam J. Harvey Debashree Basu Jenny C. Taylor Alistair T. Pagnamenta Helene Dreau Jude Craft Elizabeth Ormondroyd Hugh Watkins Eric A. Hendrickson Emily M. Mace Jordan S. Orange Hideki Aihara Grant S. Stewart Edward Blair Jeanette Gowen Cook Anja-Katrin Bielinsky
author_facet	Ryan M. Baxley Wendy Leung Megan M. Schmit Jacob Peter Matson Lulu Yin Marissa K. Oram Liangjun Wang John Taylor Jack Hedberg Colette B. Rogers Adam J. Harvey Debashree Basu Jenny C. Taylor Alistair T. Pagnamenta Helene Dreau Jude Craft Elizabeth Ormondroyd Hugh Watkins Eric A. Hendrickson Emily M. Mace Jordan S. Orange Hideki Aihara Grant S. Stewart Edward Blair Jeanette Gowen Cook Anja-Katrin Bielinsky
author_sort	Ryan M. Baxley
title	Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
title_short	Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
title_full	Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
title_fullStr	Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
title_full_unstemmed	Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
title_sort	bi-allelic mcm10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/fcda6dd35e9949f888622bfe0a813011
work_keys_str_mv	AT ryanmbaxley biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT wendyleung biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT meganmschmit biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT jacobpetermatson biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT luluyin biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT marissakoram biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT liangjunwang biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT johntaylor biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT jackhedberg biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT colettebrogers biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT adamjharvey biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT debashreebasu biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT jennyctaylor biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT alistairtpagnamenta biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT helenedreau biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT judecraft biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT elizabethormondroyd biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT hughwatkins biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT ericahendrickson biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT emilymmace biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT jordansorange biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT hidekiaihara biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT grantsstewart biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT edwardblair biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT jeanettegowencook biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening AT anjakatrinbielinsky biallelicmcm10variantsassociatedwithimmunedysfunctionandcardiomyopathycausetelomereshortening
_version_	1718395799651483648

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Ejemplares similares