Dynein axonemal light chain 1 (DNAL1) is a protein that plays a crucial role in the function and structure of cilia and flagella. These hair-like structures are essential for cell movement and fluid transport across cell surfaces. DNAL1 is a component of the outer dynein arms complex, which acts as the molecular motor providing the force to move cilia in an ATP-dependent manner .
The DNAL1 gene encodes an axonemal dynein light chain, which is expressed in tissues with motile cilia or flagella. This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28 . The murine dynein axonemal light intermediate chain 1 (Dnali1) gene is localized on chromosome 4 and consists of six exons . It is enriched in spermatocytes, spermatids, and sperm flagella, indicating a potential function in spermatogenesis .
DNAL1 is involved in the movement of sperm flagella and is crucial for sperm motility and male fertility in mice . The protein functions as a component of the outer dynein arms complex, which provides the force to move cilia in an ATP-dependent manner . This movement is essential for various physiological processes, including respiratory function and reproductive health.
Mutations in the DNAL1 gene have been associated with primary ciliary dyskinesia (PCD), a rare genetic disorder characterized by dysfunctional and structurally abnormal cilia . PCD has a serious impact on the respiratory system, leading to repeated respiratory infections, pneumonia, and infertility. In severe cases, patients with PCD often develop respiratory failure and even death . The estimated prevalence of PCD is around one in 10,000–20,000 live births .
Accurate quantitation of DNAL1 in lung tissue is crucial for understanding its involvement in PCD and developing potential therapies . Recent studies have developed quantitative methods combining immunoprecipitation with nanoLC-MS/MS to measure the expression level of human wild-type DNAL1 protein in lung tissue . These methods have shown high sensitivity and accuracy, indicating their potential use in drug development for PCD therapy .