Ask about this productRelated genes to: SEPSECS antibody
- Gene:
- SEPSECS NIH gene
- Name:
- Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
- Previous symbol:
- -
- Synonyms:
- SLA/LP, SLA
- Chromosome:
- 4p15.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-05-01
- Date modifiied:
- 2018-07-30
Related products to: SEPSECS antibody
Related articles to: SEPSECS antibody
- Pontocerebellar hypoplasia (PCH) comprises a group of rare neurodevelopmental disorders characterized by prenatal-onset cerebellar and pontine atrophy, often leading to severe motor and cognitive impairments. While advances in genetic diagnostics have improved our understanding, the full spectrum of causative mutations remains unclear, particularly in underrepresented populations. This study aims to delineate the clinical and genetic characteristics of Iranian patients with PCH. We conducted comprehensive clinical evaluations, brain imaging, and laboratory tests, followed by whole-exome sequencing (WES) in Iranian patients with PCH to establish genotype-phenotype correlations. In silico structural and modeling analyses were performed to assess the impact of novel variants on protein function. Ten unrelated patients were diagnosed with different PCH subtypes. Microcephaly and spasticity were observed in 80% of cases, while hypotonia, psychomotor retardation, and speech problems were present in all patients. Additional features included nystagmus (40%), ataxia (20%), decreased deep tendon reflexes (50%), respiratory insufficiency (10%), feeding difficulties (30%), scoliosis (10%), cognitive deficits (20%), seizures (40%), and vision problems (10%). Genetic analysis identified eight pathogenic variants, including four reported mutations in RARS2, EXOSC3, and TSEN54, and four novel mutations in SEPSECS, and RARS2. A recurrent missense variant (EXOSC3: c.395 A > C) was detected in 40% of cases. This study expands the mutational spectrum of PCH by identifying novel variants and underscores the disorder's genetic heterogeneity. The clinical manifestations ranged from mild developmental delay to severe neurodevelopmental decline with respiratory insufficiency and seizures. Our findings provide valuable insights into genotype-phenotype correlations, facilitating early diagnosis and personalized management strategies. Additionally, these results contribute to genetic counseling and future functional studies to elucidate disease mechanisms. - Source: PubMed
Publication date: 2026/03/11
Rezaei ZahraEmami FarnooshHeidari MortezaMohammadi MahmoudYousefian MiladBadv Reza ShervinKowkabi SafouraMahdieh NejatAshrafi Mahmoud Reza - To explore the genetic etiology of Pontocerebellar Hypoplasia Type 2D (PCH2D) due to compound heterozygous variants of the SEPSECS gene and to conduct a literature review. - Source: PubMed
Xuan XiaoyanZhao XiaokeZhang Ling - The study explored the transcriptional regulation of selenoprotein synthesis-relevant genes, such as selenocysteine insertion sequence element binding protein 2 (sbp2), eukaryotic elongation factor (eefsec) and o-phosphoserine selenocysteine tRNA synthase (sepsecs), and their selenium-mediated regulation in yellow catfish Pelteobagrus fulvidraco, an important fish with ecological and economic importance in several Asian countries. We cloned the sequences of sbp2, eefsec and sepsecs promoters, spanning from -2060 bp to +61 bp, -1910 bp to +53 bp and - 1456 bp to +51 bp relative to the TSS, respectively. Through sequential deletion and mutation analysis of their promoters, we identified several functional binding sites: the signal transducer and activator of transcription 1 (STAT1) binding site (-1308 bp to -1322 bp) and the forkhead box protein O1 (FOXO1) binding site (-1778 bp to -1788 bp) in the sbp2 promoter; the FOXO1 binding site (-1070 bp to -1080 bp) and the STAT3 binding site (-428 bp to -436 bp) in the eefsec promoter; and the FOXO1 binding site (-721 bp to -731 bp) in the sepsecs promoter. The activity of these binding sites was regulated by selenomethionine (Se-Met) incubation. Furthermore, electrophoretic mobility shift assay and chromatin immunoprecipitation experiments confirmed that these binding sites interact with their corresponding transcription factors above. For the first time, we demonstrated that STAT1 and FOXO1 regulate transcriptional activity of sbp2 promoter; STAT3 and FOXO1 regulate transcriptional activity of eefsec promoter; and FOXO1 regulates transcriptional activity of sepsecs promoter. These findings provide novel insights into regulatory mechanisms of selenoprotein synthesis in yellow catfish. - Source: PubMed
Publication date: 2025/07/04
Zhang KaiYu An-GenZheng HuaLi Pei-JiaLuo Zhi - Complex gene-environment interaction (GXE) for inflammatory bowel disease (IBD) remains elusive. This systematic review aims to summarize the current evidence of GXE in IBD. - Source: PubMed
Bai JingjingBouwknegt Dianne GelienWeersma Rinse KarelDijkstra Gerardvan der Sloot Kimberley Wilhelmina JohannaFesten Eleonora Anna Margaretha - Growth traits are crucial for the economic viability in broiler production, as they significantly contribute to the cost of rearing. Maximizing body weight (BW) while minimizing feed intake is key to enhancing the efficiency of broiler breeding. Identifying the genetic architecture associated with BW trait is therefore a critical step in enhancing breeding strategies. - Source: PubMed
Publication date: 2025/05/20
Luo NaCai KeqiWei LiminCui HuanxianWen JieAn BingxingZhao Guiping