Ask about this productRelated genes to: WDR34 antibody
- Gene:
- WDR34 NIH gene
- Name:
- WD repeat domain 34
- Previous symbol:
- -
- Synonyms:
- DIC5, MGC20486, bA216B9.3, FAP133
- Chromosome:
- 9q34.11
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-17
- Date modifiied:
- 2014-11-18
Related products to: WDR34 antibody
Related articles to: WDR34 antibody
- The photoreceptor outer segment is a highly specialized ciliary structure essential for phototransduction, rendering photoreceptors especially vulnerable to ciliary dysfunction. WDR34, a key component of the retrograde intraflagellar transport machinery, has been implicated in rod-cone dystrophy. However, the pathogenic mechanisms linking WDR34 deficiency to photoreceptor degeneration remain elusive. In this study we aim to investigate the in vivo function of Wdr34 in the photoreceptor cells using conditional knockout allele of Wdr34. - Source: PubMed
Zou RongCai JinruiFan LinLiu LuningChen CanChen GuangyiYang XianSun KuanxiangZhu Xianjun - Flagella and cilia are widely conserved motile structures, in mammalian, sperm possess flagella. Large protein complexes called dynein, including cytoplasmic dynein 2 and axonemal dynein, play a role in the formation of cilia and flagella. The function of each subunit component of dynein complexes in sperm flagellum formation remains unclear. One such subunit is TCTEX1D2. Co-immunoprecipitation studies showed that TCTEX1D2 interacted with cytoplasmic dynein 2 subunits WDR34, WDR60, and DYNLT1 in the testes. Furthermore, TCTEX1D2 also interacted with WDR63 and WDR78, subunits of inner dynein arm, which is axonemal dynein. Tctex1d2 mice generated in this study exhibited male infertility due to flagellar dysplasia, and the axonemal structures were disrupted inside the flagella. Further, the localization of cytoplasmic dynein 2 subunits was abnormal in in Tctex1d2 mice. In contrast, the motile cilia of Tctex1d2 mice were normal. Overall, we revealed that TCTEX1D2 is important for the assembly of cytoplasmic dynein 2 and inner dynein arm and functions in two distinct dynein complexes during mouse sperm flagellum formation. This is only in sperm flagellum formation, not in cilia formation. - Source: PubMed
Publication date: 2025/01/18
Harima RyuaHara KenshiroTanemura Kentaro - Dynein-2 is a large multiprotein complex that powers retrograde intraflagellar transport (IFT) of cargoes within cilia/flagella, but the molecular mechanism underlying this function is still emerging. Distinctively, dynein-2 contains two identical force-generating heavy chains that interact with two different intermediate chains (WDR34 and WDR60). Here, we dissect regulation of dynein-2 function by WDR34 and WDR60 using an integrative approach including cryo-electron microscopy and CRISPR/Cas9-enabled cell biology. A 3.9 Å resolution structure shows how WDR34 and WDR60 use surprisingly different interactions to engage equivalent sites of the two heavy chains. We show that cilia can assemble in the absence of either WDR34 or WDR60 individually, but not both subunits. Dynein-2-dependent distribution of cargoes depends more strongly on WDR60, because the unique N-terminal extension of WDR60 facilitates dynein-2 targeting to cilia. Strikingly, this N-terminal extension can be transplanted onto WDR34 and retain function, suggesting it acts as a flexible tether to the IFT "trains" that assemble at the ciliary base. We discuss how use of unstructured tethers represents an emerging theme in IFT train interactions. - Source: PubMed
Publication date: 2024/03/07
Mukhopadhyay Aakash GToropova KaterinaDaly LydiaWells Jennifer NVuolo LauraMladenov MiroslavSeda MarianJenkins DaganStephens David JRoberts Anthony J - NK cells play a role in various cancers, but their role in head and neck squamous cell carcinoma (HNSCC) still needs to be explored. All public data are obtained from the Cancer Genome Atlas Program (TCGA) database. All analysis was performed using specific packages in R software. In our study, we quantified the immune microenvironment of HNSCC through multiple algorithms. Next, we identified NK cell-associated genes by quantifying NK cells, including SSNA1, TRIR, PAXX, DPP7, WDR34, EZR, PHLDA1 and ELOVL1. Then, we explored the single-cell expression pattern of these genes in the HNSCC microenvironment. Univariate Cox regression analysis indicated that the EZR, PHLDA1 and ELOVL1 were related to the prognosis of HNSCC patients. Following this, we selected EZR for further analysis. Our results showed that the patients with high EZR expression might have a poor prognosis and worse clinical features. Biological enrichment analysis showed that EZR is associated with many oncogenic pathways and a higher tumour stemness index. Meanwhile, we found that EZR can remodel the immune microenvironment of HNSCC. Moreover, we noticed that EZR could affect the immunotherapy and specific drug sensitivity, making it an underlying clinical target. In summary, our results can improve the understanding of NK cell in HNSCC. Meanwhile, we identified EZR as the underlying clinical target of HNSCC. - Source: PubMed
Publication date: 2023/11/27
Shao PengHu Wei-WeiShi Xin-LianShu Ming-YangLi Dong-YaZhou TingtingZhao Qi-Tao - This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole Exome Sequencing (WES) were performed in 17 individuals with OC-MAC. Clinical interpretation of molecular findings was based on data available at the BDCA and on re-examination. No copy number variants (CNVs) classified as likely pathogenic or pathogenic were detected by CMA. WES allowed a conclusive diagnosis in six individuals (35.29%), two of them with variants in the CHD7 gene, and the others with variants in the TFAP2A, POMT1, PTPN11, and TP63 genes with the following syndromes: CHARGE, CHD7-spectrum, Branchiooculofacial, POMT1-spectrum, LEOPARD, and ADULT. Variants of uncertain significance (VUS) possibly associated to the phenotypes were found in six other individuals. Among the individuals with VUSes, three individuals presented variants in genes associated to defects of cilia structure and/or function, including DYNC2H1, KIAA0586, WDR34, INTU, RPGRIP1L, KIF7, and LMNA. These results show that WES was the most effective molecular approach for OC-MAC in this cohort. This study also reinforces the genetic heterogeneity of OC-MAC, and the importance of genes related to ciliopathies in this phenotype. - Source: PubMed
Publication date: 2023/11/06
Atique Tacla Milenade Mello Copelli MatheusPairet EleonoreMonlleó Isabella LopesRibeiro Erlane MarquesLustosa Mendes ElaineHelaers RaphaëlVieira Tarsis PaivaVikkula MiikkaGil-da-Silva-Lopes Vera Lúcia