POGZ antibody - middle region (ARP32982_P050)
- Known as:
- POGZ (anti-) - middle region (ARP32982_P050)
- Catalog number:
- arp32982_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- POGZ antibody - middle region (ARP32982_P050)
Related genes to: POGZ antibody - middle region (ARP32982_P050)
- Gene:
- POGZ NIH gene
- Name:
- pogo transposable element derived with ZNF domain
- Previous symbol:
- -
- Synonyms:
- KIAA0461, ZNF635m, ZNF280E
- Chromosome:
- 1q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-08-29
- Date modifiied:
- 2017-03-30
Related products to: POGZ antibody - middle region (ARP32982_P050)
Related articles to: POGZ antibody - middle region (ARP32982_P050)
- POGO transposable element with ZNF domain () gene is one of the most recurrently mutated genes in patients with neurodevelopmental delay (NDD). The number of reported variants continues to increase, and phenotypic reporting likely varies between different series. - Source: PubMed
Publication date: 2026/02/26
Huang HongmeiYang ChenluMa JiangqiangLi HaitianLi Shijie - Sleep disturbance is a prevalent yet poorly understood comorbidity in autism spectrum disorders (ASD). Here, we uncover a bidirectional regulatory axis connecting the ASD risk gene POGZ to core circadian mechanisms. We demonstrate that Pogz is widely expressed in the suprachiasmatic nucleus (SCN), the central pacemaker of the circadian rhythms and exhibits circadian oscillations in both the hypothalamus and liver with its transcription directly regulated by the circadian molecule DBP through a D-box element in its proximal enhancer. Pogz-deficient mice exhibited prolonged circadian periodicity, impaired light-induced phase shift, delayed adaption to an 8-hour advance jet-lag, and reduced SCN c-Fos activation in response to light pulses. Mechanistically, POGZ interacts with and enhances the transcription activity of CREB, a key regulator of light-induced phase resetting. Notably, Pogz deletion leads to ASD-related deficits in social novelty and cognition, with cognitive impairments influenced by both photoperiod and behavioral paradigm. Our findings thus reveal a critical, previously unrecognized intersection between an ASD risk gene and circadian clock, offering new insights into the pathogenesis of core ASD symptoms and comorbid sleep disturbances. - Source: PubMed
Publication date: 2026/03/17
Wu TingHe JiaoXu Chu-JunLi Chi-YuZhang PingchuanWang YanfengZhu ShanshanZhang LusiZhu JingtanZhang JingLi Jia-DaLiu Huadie - Intellectual disability (ID) and autism spectrum disorders (ASD) are complex neurodevelopmental disorders (NDDs) with a strong genetic component, and recent studies have highlighted the POGZ gene on chromosome 1q21.3 as a significant contributor, particularly linked to White-Sutton syndrome (WHSUS). POGZ-associated disorders are most commonly caused by heterozygous loss-of-function (LOF) variants, frequently arising de novo. In this study, we aimed to further this understanding by exploring novel pathogenic variants in the POGZ gene and their impact on the molecular landscape of NDDs. We conducted whole-exome sequencing (WES) in four unrelated Chinese families, each with a member diagnosed with ID. Four heterozygous LOF variants in POGZ were identified, including two frameshift deletions, one canonical splice-site substitution, and one nonsense variant. Parental testing was partially available for three probands and, in each case, was consistent with a de novo origin; parental data were unavailable for the remaining proband. Three out of the four LOF variants identified in this study are novel. Additionally, we undertook RNA sequencing and cohort analysis to delve into the molecular implications of POGZ haploinsufficiency. Aberrant expression was observed in 484 genes across the patients, a subset of which are involved in synaptic formation and function, offering insights into the involved molecular mechanisms. This study broadens the mutational spectrum of POGZ-related NDDs and underscores the crucial role of heterozygous POGZ LOF variants in the pathogenesis of ID and related conditions. - Source: PubMed
Publication date: 2026/02/26
Wu YongLiang NaHe FengyuanTan Bo - Lens epithelium-derived growth factor (LEDGF), encoded by the Psip1 gene, exists in two splice variants, LEDGF/p75 and LEDGF/p52. Although little is known about its role in the brain, LEDGF has been proposed to play a role in neurogenesis. Since known LEDGF binding partners, such as PogZ, CDA7L, MLL1 and MeCP2 are implicated in neurological dysfunction, we investigated the role of LEDGF in mouse brain. We developed a conditional Psip1 knock-out (cKO) mouse model by crossbreeding Psip1 mice with Nestin mice, resulting in neuronal depletion of both isoforms in the central nervous system. In wild-type (WT) animals, brain region-dependent alternative splicing was evidenced, with more p75 over p52 in the cerebellum and more p52 over p75 in the hippocampus. Behavioral phenotyping revealed that already at a young age, Psip1 cKO mice show motor deficits. In cerebellar neurons, LEDGF depletion results in more and smaller MeCP2 condensates. Bulk and comparative RNA sequencing of cerebellar extracts revealed downregulation of genes involved in synaptic transmission. Moreover, transcription factor network analysis showed that the differentially expressed genes are mainly regulated by the Polycomb repressive complex 2 (PRC2). Since the LEDGF/p75 binding partner MLL1 is part of the Trithorax Complex, the counterpart of PRC2 in gene regulation, our data highlight the importance of LEDGF/p75-mediated regulation of synaptic gene expression in the cerebellum through Trithorax. - Source: PubMed
Publication date: 2026/01/23
Debusschere LauraBentea EduardIglesias-Herrero CeciliaPeredo NicolasVan Belle SiskaVan der Veken Nam JooBarber-Janer AnnaPlessers DieterPeelaerts WouterHannes WoutMichiels MartineVan den Haute ChrisBaekelandt VeerleDebyser Zeger - Epilepsy with myoclonic-atonic seizures, formerly myoclonic-astatic epilepsy or Doose syndrome, accounts for 1-2.2% of childhood-onset epilepsies. We investigated genetic determinants, long-term clinical outcomes and prognostic indicators in a large cohort using homogeneous inclusion criteria. We studied 60 patients (26.7% female), mean age 14.5 years (±9.1, range 3.2-41), followed between 1986 and 2024 at two paediatric neurology centres. Average follow-up was 11.7 years. Inclusion criteria were seizure onset between 6 months and 8 years, generalized 2-6 Hz spike-wave discharges and video-EEG documented myoclonic-atonic, myoclonic seizures or both. We analysed clinical, EEG, neuroimaging, neuropsychological and genetic data obtained with next-generation sequencing. We used χ² test, test, Log-rank test, Cox regression, population-averaged logistic models and Benjamini-Yekutieli procedure to identify predictors of seizure outcome, intellectual disability and other neurodevelopmental comorbidities. We observed myoclonic-atonic seizures in 55/60 (91.7%), tonic-vibratory seizures in 44/60 (73.4%), absence seizures in 30/60 (50%), myoclonic seizures without post-myoclonic atonia in 25/60 (42%) and non-convulsive status epilepticus in 13/60 (21.7%). A 'stormy' onset occurred in 26/60 patients (43.3%). The most effective drugs were valproate, ethosuximide, benzodiazepines and phenobarbital, used in different combinations, whereas the newer drugs offered no benefit. Long-term outcomes were variable. Thirty-seven patients (61.7%) achieved seizure freedom after 5.1 years on average. We observed drug resistance in 23/60 patients (38.3%) and intellectual disability in 35/60 (58.3%). One adult patient died (mortality rate 1.80/1000-person-years). Attention deficit hyperactivity disorder was the most common comorbidity (24/60, 40%). 'Stormy' onset did not predict a worse prognosis. Global developmental delay at epilepsy onset was associated with drug resistance ( = 0.004, = 0.064) and with intellectual disability ( = 0.003, = 0.048). We found pathogenic variants in 15/39 (38.5%) patients undergoing next-generation sequencing, including four genes novel for this syndrome (; ; ), with exome sequencing yielding higher diagnostic rates than gene panels. Epilepsy with myoclonic-atonic seizures is a complex syndrome with diverse genetic causes and variable seizure severity and outcomes. Our findings expand its genetic landscape and highlight the prognostic value of prompt overall neurodevelopmental assessment at clinical onset. Whole exome sequencing should be prioritized for early diagnosis and counselling. - Source: PubMed
Publication date: 2025/12/29
Pellacani SimonaBalestrini SimonaFino EdoardoBarba CarmenCavallin MaraPisano TizianaParrini ElenaFerrari Anna RitaMarzi ChiaraGrisotto LauraGuerrini Renzo