Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy

Luo, Zhongxin; Zhang, Mengqi; Long, Hongyu; Long, Lili; Xie, Yuanyuan; Liu, Zhao‐Qian; Kang, Jin Young; Chen, Qihua; Feng, Li; Xiao, Bo

doi:10.1016/j.jns.2015.09.363

Cited by 4 publications

(4 citation statements)

References 23 publications

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“…33 PRRT2, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1 are associated with neurological disorders and cancer among other diseases, but not with any GU defects. [34][35][36][37][38][39] All these finding suggest that KCTD13 and MAZ are most plausible to cause the range of different GU phenotypes observed in these patients.…”

Section: Discussionmentioning

confidence: 75%

“…From these genes, the two more highly expressed in the GU tract were KCTD13 and MAZ , with the expression of the other seven genes in the GU tract being moderate to low according to GUDMAP database 33 . PRRT2 , PAGR1 , MVP , CDIPT , CDIPT‐AS1 , SEZ6L2 , ASPHD1 are associated with neurological disorders and cancer among other diseases, but not with any GU defects 34–39 . All these finding suggest that KCTD13 and MAZ are most plausible to cause the range of different GU phenotypes observed in these patients.…”

Section: Discussionmentioning

confidence: 82%

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Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function

et al. 2022

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Despite the high prevalence of hypospadias and cryptorchidism, the genetic basis for these conditions is only beginning to be understood. Using array‐comparative‐genomic‐hybridization (aCGH), potassium‐channel‐tetramerization‐domain‐containing‐13 (KCTD13) encoded at 16p11.2 was identified as a candidate gene involved in hypospadias, cryptorchidism and other genitourinary (GU) tract anomalies. Copy number variants (CNVs) at 16p11.2 are among the most common syndromic genomic variants identified to date. Many patients with CNVs at this locus exhibit GU and/or neurodevelopmental phenotypes. KCTD13 encodes a substrate‐specific adapter of a BCR (BTB–CUL3–RBX1) E3–ubiquitin–protein–ligase complex (BCR (BTB–CUL3–RBX1) E3–ubiquitin–protein–ligase complex (B‐cell receptor (BCR) [BTB (the BTB domain is a conserved motif involved in protein‐protein interactions) Cullin3 complex RING protein Rbx1] E3‐ubiqutin‐protein‐ligase complex), which has essential roles in the regulation of cellular cytoskeleton, migration, proliferation, and neurodevelopment; yet its role in GU development is unknown. The prevalence of KCTD13 CNVs in patients with GU anomalies (2.58%) is significantly elevated when compared with patients without GU anomalies or in the general population (0.10%). KCTD13 is robustly expressed in the developing GU tract. Loss of KCTD13 in cell lines results in significantly decreased levels of nuclear androgen receptor (AR), suggesting that loss of KCTD13 affects AR sub‐cellular localization. Kctd13 haploinsufficiency and homozygous deletion in mice cause a significant increase in the incidence of cryptorchidism and micropenis. KCTD13‐deficient mice exhibit testicular and penile abnormalities together with significantly reduced levels of nuclear AR and SOX9. In conclusion, gene‐dosage changes of murine Kctd13 diminish nuclear AR sub‐cellular localization, as well as decrease SOX9 expression levels which likely contribute in part to the abnormal GU tract development in Kctd13 mouse models and in patients with CNVs in KCTD13.

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 82%

Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function

et al. 2022

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“…Previous studies of MVP focused on tumors, drug resistance, and epilepsy (29-31); however, the roles of MVP in alcohol dependence or depression have not been reported. Two studies of the rs4788186 polymorphism on drug resistance reported negative results (32,33), suggesting that the unitary effect of rs4788186 polymorphism might be insufficient to influence the severity of depression. However, with alcohol exposure, we found a significant effect of MVP rs4788186 on alcohol dependence and depression (β = −0.17, p < 0.05; Table 4).…”

Section: Discussionmentioning

confidence: 99%

The interaction between the major vault protein rs4788186 polymorphism, alcohol dependence, and depression among male Chinese problem drinkers

Zhao

Chen

et al. 2023

Front. Psychiatry

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ObjectiveAlcohol use disorder (AUD) is the second most prevalent mental disorder and might be related to depression. Major vault protein (MVP) is a cytoplasmic protein related to vesicle transport. The present study aimed to investigate the interaction between a genetic variant (MVP rs4788186) and depression in adult male Han Chinese with AUD during withdrawal.MethodsAll participants (N = 435) were diagnosed with AUD. Alcohol dependence level was measured using the Michigan Alcoholism Screening Test, and depression was measured using the self-rating depression scale. Genomic DNA was extracted from peripheral blood and genotyped.ResultsHierarchical regression analysis identified an interaction between MVP rs4788186 and alcohol dependence level for depression (β = −0.17, p < 0.05). Then, a region of significance test was performed to interpret the interaction effect. Re-parameterized regression models revealed that the interaction between MVP rs4788186 and alcohol problem severity fit the strong differential susceptibility model (R2 = 0.08, p < 0.001), suggesting that the AA homozygotes would be more likely subjects with the G allele to experience major depression symptoms.ConclusionCarriers of the AA homozygote of MVP rs4788186 may be more susceptible to severe alcohol problems and higher levels of depression during withdrawal.

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“…Therefore, in order for the primordial follicle transition into primary follicles to occur, regulation by cell proliferation factors is required. The major vault protein (MVP) is a vital component and marker of the vault [ 32 ], which plays an important role in follicle activation [ 33 ] probably through inhibition of the PTEN and the estrogen receptors [ 34 , 35 ]. In the present study, histological examination revealed that the primordial follicles transition to primary follicle begins at g90 which corresponds to the time-point when the levels of the MVP protein are increased, relative to the g55 stage.…”

Section: Discussionmentioning

confidence: 99%

Proteomic Analysis of Fetal Ovaries Reveals That Primordial Follicle Formation and Transition Are Differentially Regulated

Che

Yang

et al. 2017

BioMed Research International

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Primordial follicle formation represents a critical phase of the initiation of embryonic reproductive organ development, while the primordial follicle transition into primary follicle determines whether oestrus or ovulation will occur in female animals. To identify molecular mechanism of new proteins which are involved in ovarian development, we employed 2D-DIGE to compare the protein expression profiles of primordial follicles and primary follicles of fetal ovaries in pigs. Fetal ovaries were collected at distinct time-points of the gestation cycle (g55 and g90). The identified proteins at the g55 time-point are mainly involved in the development of anatomical structures [reticulocalbin-1 (RCN1), reticulocalbin-3 (RCN3)], cell differentiation (actin), and stress response [heterogeneous nuclear ribonucleoprotein K (HNRNPK)]. Meanwhile, at the g90 stage, the isolated proteins with altered expression levels were mainly associated with cell proliferation [major vault protein (MVP)] and stress response [heat shock-related 70 kDa protein 2 (HSPA2)]. In conclusion, our work revealed that primordial follicle formation is regulated by RCN1, RCN3, actin, and HNRNPK, while the primordial follicle transformation to primary follicle is regulated by MVP and HSPA2. Therefore, our results provide further information for the prospective understanding of the molecular mechanism(s) involved in the regulation of the ovarian follicle development.

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Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy

Cited by 4 publications

References 23 publications

Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function

Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function

The interaction between the major vault protein rs4788186 polymorphism, alcohol dependence, and depression among male Chinese problem drinkers

Proteomic Analysis of Fetal Ovaries Reveals That Primordial Follicle Formation and Transition Are Differentially Regulated

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