Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities
Dayne Martinez,
Evan Jiang,
Zhaolan Zhou
Abstract:X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting … Show more
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