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

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

Research output: Contribution to journalReview article

11 Scopus citations

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.

Original languageEnglish
Article number22
JournalJournal of neurodevelopmental disorders
Volume8
Issue number1
DOIs
StatePublished - Jun 9 2016

Keywords

  • ASD
  • Autism
  • Developmental disorders
  • Female protective effect
  • X chromosome
  • X-inactivation
  • X-linked ASD
  • X-reactivation
  • iPSC

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