Ask about this productRelated genes to: LRRC50 antibody
- Gene:
- DNAAF1 NIH gene
- Name:
- dynein axonemal assembly factor 1
- Previous symbol:
- LRRC50
- Synonyms:
- FLJ25330, ODA7, CILD13, swt
- Chromosome:
- 16q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-26
- Date modifiied:
- 2016-09-30
Related products to: LRRC50 antibody
Related articles to: LRRC50 antibody
- Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal recessive pattern. Pseudo-dominant inheritance is exceptionally uncommon and remains poorly characterized in PCD. - Source: PubMed
Guo ZhuoyaoLi PingJiang GaoliChen Weicheng - The overall goal of this study was to reveal the genetic basis of semen production and quality traits in Italian Brown Swiss dairy cattle. Data consisted of 15,037 ejaculates from a total of 1,591 bulls. Semen traits evaluated were volume, concentration, number of spermatozoa, total motility, and progressive motility. A subset of 1,102 bulls also had records for sire conception rate, as a measure of reproductive success. We estimated the heritability and repeatability of semen traits and their genetic correlations with sire conception rate using univariate and bivariate animal models. We also identified candidate genes for semen traits using single-step genomic scans with 438k SNP markers and revealed gene networks and biological pathways through functional gene-set analyses. Heritabilities ranged from 0.04 for progressive motility to 0.23 for volume, indicating the possibility of improving these traits through selective breeding. Repeatabilities were considerably higher than the heritabilities, especially for sperm motility, indicating that both non-additive effects and the permanent environment significantly affect bull fertility. We found low to moderate genetic correlations among sperm traits, and of particular interest, high genetic correlations between sperm motility and sire conception rate, indicating the predictive values of these traits for sire reproductive success. Genomic scans revealed regions on BTA4 and BTA11 highly associated with total and progressive motility. These regions harbor genes, such as RPS27A, CCDC88A, CFAP36, SPMIP4, and DNAAF1, that are all directly implicated in sperm motility. The gene-set analyses revealed functional terms related to sperm biology, male fertility, fertilization, and the immune system, among others. Overall, our study contributes to a better understanding of the genetic basis of dairy bull fertility. In addition, our findings may guide the development and deployment of novel strategies for improving service sire fertility in Brown Swiss cattle. - Source: PubMed
Publication date: 2026/06/12
Sani Na'imatuCavani LigiaKawu MohammedKabir MohammedRossoni AttilioPeñagaricano Francisco - Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disorder caused by impaired cilia and flagella function. Despite advances in molecular diagnostics, pathogenic variants remain to be detected in a subset of clinically diagnosed individuals. In the present case, abdominal ultrasonography revealed situs inversus of the liver and spleen, and chest X-ray demonstrated dextrocardia. Semen analysis showed markedly reduced sperm motility, consistent with ciliary dysfunction, and the patient exhibited additional clinical features characteristic of PCD. Exome sequencing (ES) revealed biallelic variants in dynein axonemal assembly factor 1 (DNAAF1) (NM_178452.6), including a missense variant, c.524T>C (p.Leu175Pro), and a nonsense variant, c.1462C>T (p.Arg488*). Segregation analysis was performed in the available family members and confirmed that each parent carried one of the variants in a heterozygous state. Bioinformatic predictions supported the pathogenic potential of identified variants, suggesting that they likely underlie the ciliary defects observed in the affected individual. Taken together, these findings implicate previously reported variant c.1462C>T and newly identified variant c.524T>C in PCD associated with male infertility. The predicted structural perturbation in protein structure is likely to impair dynein arm assembly, leading to loss of ciliary motility and the resultant clinical phenotype. - Source: PubMed
Publication date: 2026/04/21
Liao BaoqiongXie WumingShuai MeiXiao LinHuang JungaoHe YingHe Shuwen - Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defective ciliary motility, leading to recurrent respiratory infections and chronic airway damage. Gene therapy holds promise for treating PCD, but its effectiveness in patient-derived models remains uncertain. This study aimed to evaluate the therapeutic potential of lentiviral gene delivery in restoring ciliary function in patient-derived nasal apical-out airway organoids. Using nasal epithelial cells from both healthy individuals and PCD patients with mutations in , , or , we established organoid models to assess gene therapy efficacy. Lentiviral vectors successfully restored the expression and proper localization of DNAAF proteins in mutant organoids, significantly improving ciliary beating frequency and the proportion of organoids with functional cilia. These findings provide proof-of-concept evidence supporting gene therapy as a viable approach to correct ciliary defects in PCD, paving the way for targeted treatments. - Source: PubMed
Publication date: 2025/09/15
Huo ChunxiaoLuo TingWu LeiYang FengXu ZhangqiTao XiaofenXia JunhuaZhou TianhuaJiang YuanXie Shanshan
- Source: PubMed