• central nervous system disease

This report describes neurodevelopmental disorders, MECP2-related, which includes multiple neurological diseases and syndromes caused by mutation or incorrect dosage of the gene encoding methyl-CpG binding protein 2 (MECP2); see MIM:300005. Since MECP2 is X-linked, the impact of modifications of the gene differs significantly in females (see Rett syndrome, FBhh0000358) and males (see mental retardation, X-linked, syndromic 13, FBhh0000359; mental retardation, X-linked syndromic, Lubs type, FBhh0000360; encephalopathy, neonatal severe, MECP2-related, FBhh0000361). MECP2 is a chromatin-associated protein that can both activate and repress transcription; it is required for normal maturation of neurons. There is no orthologous gene in Drosophila.

Multiple UAS constructs of Hsap\MECP2 have been introduced into flies, including wild-type and mutant variants. Overexpression of wild-type Hsap\MECP2 in motor neurons results in defects in dendritic structure and adult motor behavior. Using several different assays, genetic interactions have been characterized. Variant(s) implicated in human disease tested (as transgenic human gene, MECP2): the R294* (R306*) variant form has been introduced into flies; this variant is implicated in Rett syndrome (FBhh0000358).

[updated Jul. 2017 by FlyBase; FBrf0222196]