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Open Access 01-12-2016 | Review

Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research

Authors: Mary G. Dandulakis, Kesavan Meganathan, Kristen L. Kroll, Azad Bonni, John N. Constantino

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2016

Abstract

Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual’s genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e.g., autism spectrum disorders), there are significant complexities in the course and status of X chromosome inactivation (XCI) that are crucial to consider in establishing the validity of cellular models. There are major gaps and inconsistencies in the existing literature regarding XCI status during the derivation and maintenance of hiPSCs and their differentiation into neurons. Here, we briefly describe the importance of the problem, review the findings and inconsistencies of the existing literature, delineate options for specifying XCI status in clonal populations, and develop recommendations for future studies.

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Title: Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research
Authors: Mary G. Dandulakis
Kesavan Meganathan
Kristen L. Kroll
Azad Bonni
John N. Constantino
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Neurodevelopmental Disorders / Issue 1/2016
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI: https://doi.org/10.1186/s11689-016-9155-8

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Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research

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