Relevance to Autism

Zhang et al., 2024 reported the discovery of a de novo nonsense variant in the NASP gene (p.Gln289Ter) in a Chinese ASD proband who also presented with comorbid asthma; the authors of this study further demonstrated that NASP knockout or NASP with the p.Gln289Ter variant increased chromatin accessibility, promoted the active promotor state of genes enriched in synaptic signalling, and increased the expression of genes in the neural signalling and immune signalling pathways. Additional ASD-associated variants in the NASP gene, including two de novo missense variants, a de novo deletion encompassing the gene, and a maternally-inherited nonsense variant, have been reported (Yuen et al., 2017; Cirnigliaro et al., 2023; Zhang et al., 2024).

Molecular Function

This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa.

External Links

References