Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

Proper meiotic chromosome segregation requires mismatch repair genes MLH1 and MLH3, of which variants occur in the human population. Here, the authors use computational predictions and yeast assays to select human MLH1/3 variants for modelling in mice, observing reproductive defects from abnormal le...

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Autores principales:	Priti Singh, Robert Fragoza, Cecilia S. Blengini, Tina N. Tran, Gianno Pannafino, Najla Al-Sweel, Kerry J. Schimenti, Karen Schindler, Eric A. Alani, Haiyuan Yu, John C. Schimenti
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/ea5df12e8dcb4fb3a1ae13ed6a79b628
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spelling	oai:doaj.org-article:ea5df12e8dcb4fb3a1ae13ed6a79b6282021-12-02T16:46:36ZHuman MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging10.1038/s41467-021-25028-12041-1723https://doaj.org/article/ea5df12e8dcb4fb3a1ae13ed6a79b6282021-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-25028-1https://doaj.org/toc/2041-1723Proper meiotic chromosome segregation requires mismatch repair genes MLH1 and MLH3, of which variants occur in the human population. Here, the authors use computational predictions and yeast assays to select human MLH1/3 variants for modelling in mice, observing reproductive defects from abnormal levels of crossing over.Priti SinghRobert FragozaCecilia S. BlenginiTina N. TranGianno PannafinoNajla Al-SweelKerry J. SchimentiKaren SchindlerEric A. AlaniHaiyuan YuJohn C. SchimentiNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Priti Singh Robert Fragoza Cecilia S. Blengini Tina N. Tran Gianno Pannafino Najla Al-Sweel Kerry J. Schimenti Karen Schindler Eric A. Alani Haiyuan Yu John C. Schimenti Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
description	Proper meiotic chromosome segregation requires mismatch repair genes MLH1 and MLH3, of which variants occur in the human population. Here, the authors use computational predictions and yeast assays to select human MLH1/3 variants for modelling in mice, observing reproductive defects from abnormal levels of crossing over.
format	article
author	Priti Singh Robert Fragoza Cecilia S. Blengini Tina N. Tran Gianno Pannafino Najla Al-Sweel Kerry J. Schimenti Karen Schindler Eric A. Alani Haiyuan Yu John C. Schimenti
author_facet	Priti Singh Robert Fragoza Cecilia S. Blengini Tina N. Tran Gianno Pannafino Najla Al-Sweel Kerry J. Schimenti Karen Schindler Eric A. Alani Haiyuan Yu John C. Schimenti
author_sort	Priti Singh
title	Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
title_short	Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
title_full	Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
title_fullStr	Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
title_full_unstemmed	Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
title_sort	human mlh1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ea5df12e8dcb4fb3a1ae13ed6a79b628
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Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

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