Ask about this productRelated genes to: SRGAP1 antibody
- Gene:
- SRGAP1 NIH gene
- Name:
- SLIT-ROBO Rho GTPase activating protein 1
- Previous symbol:
- -
- Synonyms:
- KIAA1304, ARHGAP13
- Chromosome:
- 12q14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2002-12-09
- Date modifiied:
- 2016-10-05
Related products to: SRGAP1 antibody
Related articles to: SRGAP1 antibody
- Chromosome 12q14.2 has been reported as a potential risk locus for epithelial ovarian cancer (EOC) in genome-wide association study (GWAS). We performed targeted sequencing around the rs11175194 at chromosome 12q14.2 and identified five potential risk variants. The association between these five variants and EOC risk was evaluated in 893 EOC cases and 1292 controls. We identified that rs11175195 (P = 1.94 × 10-6, OR = 1.36, 95% CI = 1.20-1.54) was significantly associated with EOC risk in validation study and after meta-analysis with previous GWAS data, rs11175195 reached genome-wide significant level (P < 5 × 10-8). Functional annotation and expression quantitative trait loci analysis prioritized rs11175194 as a causal variant at this locus. The presence of G-rs11175194 risk allele increased binding affinity of the transcription factor NR1H4 and upregulate SRGAP1 gene expression. Overexpression of SRGAP1 promotes the proliferation and invasion in ovarian cancer cell lines. In conclusion, we identified a novel susceptibility locus of ovarian cancer and revealed a potential molecular mechanism for ovarian cancer carcinogenesis. These results may provide a potential biomarker and therapeutic target for ovarian cancer. - Source: PubMed
Zhao YanruiGeng WeiLiu WeiLiu LeiTeng ChangcaiChen YuxinYang DongChai LinqingWang WeiChu XinleiHuang CaiyunLiu BenChen KexinZheng HongLi Lian - Copy Number Variants (CNVs) are structural variants affecting genetic diversity and phenotypic variability of populations. Different authors underlined the relevance of CNV in relation to the adaptation to environmental conditions (e.g., altitude, harsh farming environment). Aosta cattle (Aosta Red Pied - ARP; Aosta Black Pied/Chestnut - ABC and Mixed Chestnut-Héren - ACH) farmed in the Aosta Valley, and the Oropa Red Pied (ORO), farmed in the Piedmont region, are autochthonous dual-purpose breeds well adapted to the natural Alpine environment. In contrast, the Holstein (HOL) breed is a specialized dairy breed raised in intensive farming systems, representing an artificial environment. The aim of this study is to use CNVs to characterize these breeds and explore the relationship between structural genomic variability and adaptation to mountain farming systems (natural environment) vs. intensive farming systems (artificial environment). Using the GeneSeek Genomic Profiler Bovine 100K data, a total of 160,798 CNVs were identified across 5,610 individuals. Principal Component Analysis (PCA) using CNV Regions (CNVRs) revealed that Aosta breeds clustered into two separate groups, with one smaller cluster including part of ORO cows, while the Holstein formed a distinct cluster. These results suggest that CNVs may act as markers of adaptive selection, influencing both Aosta and ORO breeds, though to a different extent compared to the intensively farmed HOL breed. A total of 526 CNVRs were identified in at least 2% of the samples. Annotated genes and overlapping QTL were functionally associated with production, functional traits, and health-related characteristics. V analysis revealed candidate genes linked to environmental adaptation, reproduction, and metabolic efficiency in Aosta, ORO, and HOL cattle. Key findings include TCF12 and SRGAP1 deletions in Aosta, suggesting trade-offs between muscle growth and endurance, while ELF2 and ARID5B gains in Holstein indicate aptitude for milk protein synthesis and feed efficiency. Additionally, reproductive genes (RGS3, GSE1, MARCH10) showed distinct selection pressures between Dual-purpose and Holstein breeds, reflecting adaptation to different production systems. - Source: PubMed
Publication date: 2025/07/01
Strillacci Maria GiuseppinaBernini FrancescaVevey MarioBlanchet VeruskaBagnato Alessandro - Oligodendrocyte maturation arrest in hypoxia-induced white matter injury (WMI) results in long-term neurofunctional disabilities of preterm infants. Although neurons are closely linked to myelination regulation, how neurons respond to the above process remains elusive. Here, we identify a compensatory role of neuronal Slit1-dependent signaling in protecting against hypoxia-induced hypomyelination and ameliorating motor and cognitive disabilities. Conditional ablation of Slit1 in neurons exacerbates hypoxia-induced hypomyelination but is negligible for developmental myelination. Secreted Slit1 from hypoxic neurons directly targets oligodendrocyte, acting through Robo2-srGAP1-RhoA signaling. Pharmacological inhibition of RhoA restores myelination and promotes neurofunctional recovery in adolescent mice. Notably, natural selection analysis and functional validation indicate an adaptive variant with higher Slit1 gene expression in the Tibetan population, which has low oxygen availability. Collectively, these findings show a neuronal Slit1-dependent program of OL differentiation and suggest that targeting the Slit1-Robo2 signaling axis may have therapeutic potential for treatment of preterm infants with hypoxic WMI. - Source: PubMed
Publication date: 2025/03/20
Dai WenxiuNian XimingZhou ZhihaoDu AilianLiu QiJia ShufangLu YanLi DaopengLu XiaoyunZhu YanqinHuang QiuyingLu JiaquanXiao YunshanZheng LiangkaiLei WanyingSheng NengyinZang XiujuanHou YanqiangQiu ZilongXu RenXu ShuhuaZhang XueqinZhang Liang - - Source: PubMed
Publication date: 2024/12/03
Sherchan PrativaHuang LeiWang YuechunAkyol OnatTang JipingZhang John H - MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder caused by the gain of dose of at least the genes MECP2 and IRAK1 and is characterised by intellectual disability (ID), developmental delay, hypotonia, epilepsy and recurrent infections. It mainly affects males, and females can be affected or asymptomatic carriers. Rett syndrome (RTT) is mainly triggered by loss of function mutations in MECP2 and is a well described syndrome that presents ID, epilepsy, lack of purposeful hand use and impaired speech, among others. As a result of implementing omics technology, altered biological pathways in human RTT samples have been reported, but such molecular characterisation has not been performed in patients with MDS. We gathered human skin fibroblasts from 17 patients with MDS, 10 MECP2 duplication carrier mothers and 21 patients with RTT, and performed multi-omics (RNAseq and proteomics) analysis. Here, we provide a thorough description and compare the shared and specific dysregulated biological processes between the cohorts. We also highlight the genes TMOD2, SRGAP1, COPS2, CNPY2, IGF2BP1, MOB2, VASP, FZD7, ECSIT and KIF3B as biomarker and therapeutic target candidates due to their implication in neuronal functions. Defining the RNA and protein profiles has shown that our four cohorts are less alike than expected by their shared phenotypes. - Source: PubMed
Publication date: 2024/05/15
Pascual-Alonso AinhoaXiol ClaraSmirnov DmitriiKopajtich RoberProkisch HolgerArmstrong Judith