Ask about this productRelated genes to: SPATA5 Blocking Peptide
- Gene:
- SPATA5 NIH gene
- Name:
- spermatogenesis associated 5
- Previous symbol:
- -
- Synonyms:
- SPAF, AFG2
- Chromosome:
- 4q28.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-04
- Date modifiied:
- 2018-07-16
Related products to: SPATA5 Blocking Peptide
Related articles to: SPATA5 Blocking Peptide
- To expand the clinical features, epilepsy phenotype, and genotype in individuals with AFG2A-related encephalopathy (AFG2A-RE), previously known SPATA5-related encephalopathy, and to explore potential associations between genotype and epilepsy manifestations. - Source: PubMed
Publication date: 2026/04/03
Nou-Fontanet LaiaCantalupo GaetanoBraun FrederikCamacho Alia RamírezÁlvarez Verónica GonzálezChilavert Verónica DelgadilloInsuga Víctor SotoFernández Luisa ArrabalAlonso-Colmenero ItziarArzimanoglou AlexisFons Carmen - To investigate the genetic etiology of ventriculomegaly (VM) in fetuses by analyzing chromosomal aberrations and genetic variations through high-throughput sequencing. Clinical data and samples (amniotic fluid or miscarriage tissue) were collected from fetuses with ventricular width >10 mm, diagnosed at Shanxi Children's Hospital between 2020 and 2023. All samples underwent copy number variation sequencing (CNV-seq), and those with negative CNV-seq result were further analyzed by whole exome sequencing (WES) to identify single-gene variants. Chromosomal abnormalities and monogenic variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analysis was performed using SPSS 26.0, and pregnancy outcomes were tracked. Among 73 VM fetuses, 23 (31.5%) cases exhibited chromosomal aberrations via CNV-seq, including 4 aneuploidies, 12 pathogenic CNVs, 2 likely pathogenic CNVs, and 8 variants of unknown significance. The incidence of chromosomal abnormalities was significantly higher in non-isolated VM fetuses compared to isolated VM (p < 0.05). WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including SPATA5, PDHA1, TRIM71, PIK3R2, TUBB, CRB2, PIDD1, RTTN, FGFR3, AIMP1, POGZ, MYH7, CNOT3, MACF1, and PURA gene, with 10 novel variants reported. Fetal VM is associated with heterogeneous neurodevelopmental outcomes, and genetic etiology plays an important role in its pathogenesis. WES enhances the efficiency of diagnosis, particularly for VM fetuses without detectable aneuploidy or CNVs. Identifying the genetic etiology of fetal VM is is crucial for informing birth defect prevention strategies and improving the overall health of the newborn population. - Source: PubMed
Publication date: 2025/07/02
Chenyue ZhaoHuiqin XueJingbo GaoMin GuoHao YueRong GuoGuizhi CaoXiayu SunJianrui Wu - Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including , , , and which are critical for synaptic signaling imbalance, and for ciliopathies, for spectrins structure, , , and for neuronal organelles trafficking and integrity, , , , , and for gene expression, for cell cycle control, , , and for mitochondrial function, and , , and WDR45 for neuron homeostasis. Novel single nucleotide variants in the , , , , , and genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches. - Source: PubMed
Publication date: 2025/06/17
Belenska-Todorova LyudmilaZamfirov MilenTodorov TihomirAtemin SlavenaSleptsova MilaPavlova ZornitsaKadiyska TanyaMaver AlesPeterlin BorutTodorova Albena - Eukaryotic ribosome biogenesis is an energy-consuming process involving many ATPase-driven steps. In yeast, AAA+ protein Drg1 releases an assembly factor Rlp24, a placeholder for Rpl24, from pre-60S particles just exported to cytosol. The equivalent process in human cells involves SPATA5 (Drg1 homolog) and additional factors. However, the mechanistic details remain unclear. Here we reveal that SPATA5 forms a 4:2:2:2 complex with SPATA5L1, C1orf109, and CINP. This complex features an N-terminal ring made of C1orf109, CINP and NTDs of SPATA5/SPATA5L1, and two hexameric AAA+ ATPase rings. Intriguingly, a conserved cysteine C672 in the P-loop of SPATA5 is sulfinylated, generating an inactive conformation incompatible with ATP binding. We also obtained a cryo-EM structure of pre-60S-bound SPATA5 complex. Different from yeast, the recognition of the pre-60S particle is mediated by human-specific factor CINP, through two distinct sets of interactions: one with GTPBP4 and the other with ES27A. Taken together, these data provide structural basis for understanding the cytoplasmic maturation of the pre-60S, and reveal human-specific features that might be harnessed for therapeutic purposes. - Source: PubMed
Publication date: 2025/04/23
Dai YuhaoWu DamuLi NingningMa ChengyingZhang YunyangGao Ning - The fundamental skills for motor coordination and motor control emerge through development. Neurodevelopmental disorders such as developmental coordination disorder (DCD) lead to impaired acquisition of motor skills. This study investigated motor behaviors that reflect the core symptoms of human DCD through the use of BXD recombinant inbred strains of mice that are known to have divergent phenotypes in many behavioral traits, including motor activity. We sought to correlate behavior in basic motor control tasks with the known genotypes of these reference populations of mice using quantitative trait locus (QTL) mapping. We used 12 BXD strains with an average of 16 mice per group to assess the onset of reflexes during the early neonatal stage of life and differences in motor coordination using the tests for open field, rotarod, and gait behaviors during the adolescent/young adulthood period. Results indicated significant variability between strains in when neonatal reflexes appeared and significant strain differences for all measures of motor coordination. Five strains (BXD15, BXD27, BXD28, BXD75, BXD86) struggled with sensorimotor coordination as seen in gait analysis, rotarod, and open field, similar to human presentation of DCD. We identified three significant quantitative trait loci for gait on proximal Chr 3, Chr 4, and distal Chr 6. Based on expression, function, and polymorphism within the mapped QTL intervals, seven candidate genes (Gpr63, Spata5, Trpc3, Cntn6, Chl1, Grm7, Ogg1) emerged. This study offers new insights into mouse motor behavior, which promises to be a first murine model to explore the genetics and neural correlates of DCD. - Source: PubMed
Rajan Jeffy Rajan SoundaraGill KamaldeepChow EricAshbrook David GWilliams Robert WZwicker Jill GGoldowitz Daniel