Ask about this productRelated genes to: SPATA7 Blocking Peptide
- Gene:
- SPATA7 NIH gene
- Name:
- spermatogenesis associated 7
- Previous symbol:
- LCA3
- Synonyms:
- HSD3
- Chromosome:
- 14q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-07
- Date modifiied:
- 2014-11-19
Related products to: SPATA7 Blocking Peptide
Related articles to: SPATA7 Blocking Peptide
- - Source: PubMed
Publication date: 2026/03/16
Sharma ManuHasan ShadabKatoch Deeksha
- Source: PubMed
- Inherited retinal diseases (IRDs) are a diverse group of disorders that share common vision deficits ranging from early onset blindness to severe and progressive later-onset disease. We report a form of early-onset day-vision loss, cone-rod dystrophy, in the Standard poodle. Through GWAS and homozygosity mapping, a large deletion on CFA8:NC_049229.1:g.60,022,583_60,040,453del was found which removes 3' portions of two different genes, PTPN21 and SPATA7, presenting a challenge for assessing the actual causative gene in a multi-gene large deletion. All affected dogs were homozygous for the mutant allele, which segregated perfectly with the phenotype within the breed. The variant was absent in 1879 dogs from the Dog10K database. While the role of SPATA7 for retinal disease has been established in human patients and genetically engineered mice, the role of PTPN21 in the retina is unclear even though it is expressed in rod and cone photoreceptors. Expression of whole and truncated transcripts for both genes was detected in skin fibroblasts from controls and cases. Retinal RNA analysis of PTPN21 splicing suggests that at least one unmodified transcript is still present in mutants. Ptpn21-/- knockout mice did not have an ocular phenotype, and IHC for rod- and cone-specific opsins detected no cone or rod abnormalities suggesting that PTPN21 loss has minimal to no contributory role towards the retinal phenotype in mutants. The variant leads to a deletion of the 3'-end of the SPATA7 transcript: XM_038545497.1:r.1,314_1,629delins[g.60,018,954-60,018,990], p.(XP_038401425.1: Asp361GlufsTer2), reducing the predicted protein from 595 to 361 AA. Ultrastructure expansion microscopy (U-ExM) enabled the detection of a distinct SPATA7 signal around the transition zone of the primary cilium in photoreceptors and fibroblasts of WT dogs, which was absent in affected dog. We posit that SPATA7 deficiency is the main cause of the condition, and propose this disease as a model for the SPATA7-related form of cone-rod dystrophy in humans. Our work shows an example of functional refinement of a multi-gene deletion variant using a multi-technique approach. - Source: PubMed
Publication date: 2025/12/01
Murgiano LeonardoNiggel Jessica KTakahashi KeiDufour Valérie LGrubaugh Catharina RSudharsan RaghaviKwok Jennifer CBecker DoreenBanerjee EshaYu Wen-MeiLeeb TossoQu Cheng-KuiBeltran William AAguirre Gustavo D - To retrospectively analyze 11 Chinese pedigrees affected with Leber congenital amaurosis (LCA) and summarize the clinical manifestations and genetic characteristics of patients. - Source: PubMed
Bai ZhouxianShao JingzhiKong Xiangdong - The heterogeneity of pre-eclampsia (PE) complicates its pathogenesis, which remains incompletely understood. Emerging evidence indicates a significant role of metabolism in the pathophysiology of PE. We procured the PE dataset from the Gene Expression Omnibus database and sourced a published compilation of metabolism-related genes, then employed consensus clustering to classify PE subtypes. Subsequently, we examined the relationships of these subtypes with metabolic features and immune infiltration. Feature genes were identified using weighted gene co-expression network analysis (WGCNA) and further scrutinized through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses. To refine the selection of feature genes, we applied two machine learning algorithms. Additionally, we assessed the expression profiles of RAG1, RBBP7, RFTN2, SPATA7, and ZNF16 at the single-cell RNA sequencing (scRNA-seq) level. Finally, we validated the diagnostic value and expression of these genes using PE datasets and quantitative reverse transcription-PCR (qRT-PCR) analysis. We identified three PE subtypes on the basis of the number of distinct metabolic characteristics, namely Metabolism Correlated (MC) A (MCA), MCB, and MCC subclasses. Through WGCNA, we pinpointed 101 metabolic genes that were strongly associated with PE progression. Machine learning algorithms helped to narrow the list to five key signature genes, which were then used to construct a predictive model offering significant clinical benefits for PE patients. qRT-PCR analysis confirmed that these genes are closely linked to PE progression, while scRNA-seq data revealed high expression of RBBP7 in trophoblast cells. In conclusion, the five genes identified here-RAG1, RBBP7, RFTN2, SPATA7, and ZNF16-were found to be strongly associated with PE progression. - Source: PubMed
Publication date: 2025/02/10
Xiong ZhihuiGuan HailianPei ShupingWang Caijiao