The DMAP1 gene encodes a protein that regulates the repression and activation of transcription by forming several distinct complexes. It forms a subunit of the NuA4 histone acetyltransferase (HAT) complex, which is responsible for carrying out the acetylation of the nucleosomal histones H2A and H4. This modification helps activate the transcription of certain genes, presumably by altering nucleosome-DNA interactions and promoting the association of the modified histones with other transcription-regulating proteins. DMAP1 also forms a repressive transcription complex with DNA methyltransferase 1 (DNMT1) and histone deacetylase 1 (HDAC1). Further, it interacts with DAXX to repress glucocorticoid-receptor mediated transcription. DMAP1 can also function independently to repress transcription.
The DMAP1 gene, located on the short arm of chromosome 1, spans a length of just 7.2 kb of DNA. Its coding sequence is contained within 12 exons and it encodes a 52.9 kDa protein product comprised of 467 amino acids. Alternatively spliced transcript variants encoding the same protein have been identified. While DMAP1 is widely expressed, overexpression of the gene is seen in peripheral blood mononuclear cells and CD8 T-cells.
Monies et al. (2017) depicted the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 2-year-old male from a consanguineous family, presented with developmental delay and dysmorphic features such as hypertelorism, a long philtrum, low-set ears and ear tags. Using whole exome sequencing, a heterozygous mutation (c.1175G>A, p.R392Q) was identified in exon 9 of the patient’s DMAP1 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the zebrafish dmap1 gene had been implicated in neural migration and differentiation. The authors noted that further studies are required to independently confirm this association.
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