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Updated: Oct 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene
L Villard1, M Fontès, J J Ewbank
1INSERM U491, Faculté de Médecine La Timone, 27 Bd. Jean Moulin, 13385, Marseille Cedex 5, France. villard@medecine.univ-mrs.fr
Abstract:
We report the characterization of a new Caenorhabditis elegans gene, xnp-1, that encodes the closest known non-mammalian relative of the human XNP/ATR-X protein. Mutations in the corresponding gene lead to mental retardation in humans. The nematode gene is composed of 10 exons, and we show that a 4.3kb transcript is produced from the xnp-1 locus. The 1359 residue XNP-1 protein is 33.6% identical and 52.2% similar to the human XNP/ATR-X protein. In two regions of more than 250 amino acids, the proteins display 70% identity. The human and nematode proteins are putative DNA helicases and contain the seven characteristic domains of this family of proteins. In addition to the fact that similar proteins are encoded by the nematode and human gene, they share a partially identical genomic structure. These data indicate that xnp-1 and XNP/ATR-X have diverged from the same ancestral DNA helicase gene and may therefore have conserved similar functions at the cellular level.
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