Ask about this productRelated genes to: DNALI1 antibody
- Gene:
- DNALI1 NIH gene
- Name:
- dynein axonemal light intermediate chain 1
- Previous symbol:
- -
- Synonyms:
- P28, hp28, dJ423B22.5
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-06-12
- Date modifiied:
- 2016-10-05
Related products to: DNALI1 antibody
Related articles to: DNALI1 antibody
- Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous disorder leading to destructive airway disease with severe bronchiectasis and chronic lung failure in adulthood. Pathogenic variants in CCDC40 are associated with more severe reduction of lung function compared to most other PCD types. Currently, no therapies correcting the underlying disease mechanism are available. Here we investigate the efficacy of lipidoid nanoparticle-formulated mRNA encoding human CCDC40 (LNP-CCDC40-mRNA) as a corrective measure for structural and functional defects in vitro (human cells) and in vivo (zebrafish). Human nasal respiratory epithelial cells cultured at air-liquid-interface from five CCDC40-deficient individuals and a newly generated vertebrate animal model (ccdc40-/- zebrafish) were treated with LNP-CCDC40-mRNA. CCDC40-deficient cells were analyzed by high-speed video microscopy and immunofluorescence microscopy. ccdc40-/- zebrafish olfactory pit cilia were analyzed by high-speed video microscopy and fluid flow assays. Topical application of exogenous LNP-CCDC40-mRNA to CCDC40-deficient cells results in endogenous CCDC40 expression (10-74% of ciliated cells), enabling axonemal integration of CCDC40-associated proteins (CCDC39, GAS8/DRC4, DNALI1). Consistently, ciliary beat frequencies were significantly increased in treated CCDC40-deficient cells and comparable to healthy control cells. Further, we showed improved ciliary transport of fluorescent particles. Injection or topical application of human LNP-CCDC40-mRNA to ccdc40-/- zebrafish significantly increased ciliary motility and established directional flow in olfactory pits. We provide structural and functional evidence in vitro and in vivo for the biological efficacy of LNP-CCDC40-mRNA in CCDC40-deficient respiratory cells and zebrafish. Based on our results, an in vivo human study (Phase 1 trial) is planned in individuals with pathogenic variants in CCDC40. - Source: PubMed
Publication date: 2026/03/30
Wohlgemuth KaiRasteiro MargaridaAneja ManishBota CatarinaCindric SandraFreischem StefanieGeorge SebastianGünsel Gizem GünesIshola SeunKoenig JuliaKubisch-Dohmen RebekkaLangenickel ThomasLoges Niki TomasLopes MiguelMummert VerenaOlbrich HeikePennekamp PetraPereira TelmoPinto Andreia LRaidt JohannaRudolph CarstenTer Steege AdrianValecha DrishtiLopes Susana SOmran Heymut - This study investigated the impact of benzo[a]pyrene (BaP) exposure on male reproductive health, revealing a dose-dependent decline in sperm count, density, and serum testosterone levels. BaP exposure significantly impaired sperm motility, as evidenced by reduced kinematic parameters (VSL, VCL, VAP, LIN, STR, WOB). Molecular analysis demonstrated that BaP downregulated the expression of key genes, including ZMYND10 and its associated motility protein DNALI1, and the spermiogenesis regulator ZMYND15 along with its downstream targets (DPY19L2, AKAP4, AKAP3, SPEM1, PRM1, CATSPER3). These alterations in gene expression are linked to structural and functional deficits in sperm, such as abnormal morphology (coiled tails, folded heads) and impaired flagellar development. Our research infers that Bap diminishes sperm quality in male rats and induces reproductive harm by downregulating ZMYND15 and ZMYND10, hence influencing the expression of their associated genes. This study elucidates a novel mechanism for BaP-induced impairment of sperm quality. - Source: PubMed
Publication date: 2026/03/17
Zhao XinruiDong XiuxiaFu PengjuanChen YongkangLiu NaWang BoheFeng XiaojuanLi Xiangli - The inner dynein arm (IDA) plays a crucial role in regulating ciliary and flagellar beating; however, the molecular mechanisms underlying IDA regulation remain largely unclear. - Source: PubMed
Publication date: 2026/02/23
Yue QiulingZhang HaoqiangXu BoChen MinMa AoLi JunyiYan DiJiang YifanQian BaomeiLi MingWu LiminZhao XiaozhiJiang XiaohuaBai Shun - Nasopharyngeal carcinoma (NPC) is the most prevalent type of head- and -neck cancer, and its diagnosis and treatment are currently facing significant challenges. This study aimed to identify biomarkers associated with NPC by performing bioinformatic analysis on the GSE12452, GSE53819, and GSE64634 datasets from the GEO database. First, differentially expressed genes (DEGs) between NPC and normal nasopharyngeal tissues were screened. Then, these DEGs were subjected to RobustRank Aggregation analysis. Through Receiver Operating Characteristic (ROC) analysis and three machine-learning models, biomarkers such as DNAH5, ZMYND10, LRRC6, ARMC4, DNAI2, and DNALI1 were identified. Enrichment analysis was performed to uncover the common pathways of these biomarkers. Using the Comparative Toxicogenomics Database (CTD), target drugs for NPC were predicted based on these biomarkers. Additionally, immune infiltration analysis was carried out to study the relationship between these biomarkers and immune cells. A regulatory network was also constructed. It was found that these biomarkers are mainly involved in cytokine-cytokine receptor interaction, and some are part of common cancer-related signaling pathways. In addition, quantitative real time polymerase chain reaction (qRT-PCR) results showed that the expression levels of all biomarkers were significantly elevated in normal cell samples. DNAH5 and ZMYND10 were significantly higher in normal surrounding tissues. These findings provided potential support for the early clinical diagnosis and treatment of nasopharyngeal carcinoma patients. - Source: PubMed
Publication date: 2025/07/01
Fu CongSun LinZhang LiliZhou TongBi Yanzhi - The syndrome of multiple morphological abnormalities of the sperm flagella (MMAF) is one of the most serious kinds of sperm defects, leading to asthenoteratozoospermia and male infertility. In this study, we use whole-exome sequencing to identify genetic factors that account for male infertility in a patient born from a consanguineous Pakistani couple. A homozygous frameshift mutation (c.1399_1402del; p.Gln468ArgfsTer2) in axonemal dynein light chain domain containing 1 ( AXDND1 ) was identified in the patient. Sanger sequencing data showed that the mutation was cosegregated recessively with male infertility in this family. Papanicolaou staining and scanning electron microscopy analysis of the sperm revealed severely abnormal flagellar morphology in the patient. Immunofluorescence and western blot showed undetectable AXDND1 expression in the sperm of the patient. Transmission electron microscopy analysis showed disorganized sperm axonemal structure in the patient, particularly missing the central pair of microtubules. Immunofluorescence staining showed the absence of sperm-associated antigen 6 (SPAG6) and dynein axonemal light intermediate chain 1 (DNALI1) signals in the sperm flagella of the patient. These findings indicate that AXDND1 is essential for the organization of flagellar axoneme and provide direct evidence that AXDND1 is a MMAF gene in humans, thus expanding the phenotypic spectrum of AXDND1 frameshift mutations. - Source: PubMed
Publication date: 2025/06/03
Ali ImtiazYang Meng-LeiRahim FazalAli HaiderZeb AurangAhmad NisarRaza YousafYue WangShoaib MuhammadAbbas TanveerShah WasimMa HuiZhang HuanYin HaoShi Qing-Hua