DAW1

Cilia effects upon perturbation of DAW1

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, flagella

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Also known as ODA16. Adaptor between intraflagellar transport proteins and outer arm dynein during ciliary assembly, needed for efficient dynein transport from the cytoplasm to the flagellar compartment. (20568242, 18852297, 28298440). We identify compound heterozygous variants in DAW1, a dynein arm assembly factor, in a proband with HTX and complex congenital heart disease but no clinical signs of PCD. Whole-genome sequencing revealed a maternally inherited canonical splice-site variant (c.648 + 1G > A) and a paternally inherited missense variant (c.341G > A; p.Arg114Gln), both classified as variants of uncertain significance under ACMG/AMP guidelines. Using Xenopus tropicalis, we show that Daw1 depletion disrupts left–right patterning, cardiac looping, and mucociliary flow, all of which are rescued by wild-type human DAW1. Functional testing of patient alleles showed notable tissue specificity: p.Arg114Gln fully rescued mucociliary flow but did not restore left–right patterning, while the splice-site variant resulted in a complete loss of function in both contexts(PMID: 41727625).

Model organism evidence