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Chunk #10 — INTRODUCTION — The ADNP gene

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
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embryonic development (Fig. 2). Bioinformatic analysis also identified PxVxL as a potential heterochromatin protein 1α (HP1α) binding motif, together with an ARKS motif in the homeobox domain [Mosch et al., 2011]. Indeed, HP1α is found in co-immunoprecipitates from P19 nuclear protein extracts with ADNP antibodies and vice versa. Additional proteins in the precipitates with ADNP antibodies were BRG1, BAF250A, and BAF170, all members of the mating-type switching/sucrose non-fermenting (SWI/SNF) remodeling complex. Despite the presence of a bipartite nuclear localization signal (NLS), the protein is predominantly, but not exclusively, cytoplasmatic in neuronal cells, though in non-neural cells it is mostly located in the nucleus [Gennet et al., 2008; Mandel et al., 2008]. The protein also contains signals involved in cellular secretion and uptake and ADNP has been found in the extracellular space of VIP stimulated astrocytes [Furman et al., 2004]. Finally, ADNP exhibits a strong neuroprotective function that can be attributed in its entirety to an octapeptide Asn-Ala-Pro-Val-Ser-Ile-Pro-Alaor NAPVSPIQ domain called NAP [Bassan et al., 1999; Magen and Gozes, 2014]. The mechanism of action is believed to involve P53, a key regulator of cellular apoptosis, as silencing of ADNP results in an increase of p53 [Zamostiano et al., 2001]. Subsequently, it