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Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.


ABSTRACT: Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stere

SUBMITTER: Miyake K 

PROVIDER: S-EPMC3689680 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature