Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility...Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. Design: Institutional review board-approved observational case-co ntrol study. Setting: Infertility center and university hospital. Patient(s): Si xty-two fertile controls and seven subjects with unexplained infertility. Inter vention(s): BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and co mplementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresi s. Main Outcome Measure(s): Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs). Result(s): FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FM P allele frequencies between the controls and subjects. One patient was homozygo us for one FMP. Conclusion(s): The human FMN2 gene is conserved between evolutio narily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identifica tion of patients with meiosis I arrest is necessary to determine whether FMN2 mu tations are a cause of unexplained infertility.展开更多
[目的]探究食管癌中同源形成素样蛋白2(Formin-like 2,FMNL2)的表达及其与患者预后的关系,分析其在细胞中的生物学功能。[方法]使用免疫组化分析食管癌患者中FMNL2的表达;Kaplan-Meier分析FMNL2的表达与临床预后的关系,Cox回归模型分析F...[目的]探究食管癌中同源形成素样蛋白2(Formin-like 2,FMNL2)的表达及其与患者预后的关系,分析其在细胞中的生物学功能。[方法]使用免疫组化分析食管癌患者中FMNL2的表达;Kaplan-Meier分析FMNL2的表达与临床预后的关系,Cox回归模型分析FMNL2在预后中的价值。使用qRT-PCR和Western blot实验检测细胞中FMNL2的表达;使用CCK8和Transwell小室实验分析FMNL2对细胞增殖、侵袭与迁移的影响。[结果]FMNL2在食管癌组织中表达高于癌旁组织(124.395±18.422 vs 37.876±18.266,P<0.05);FMNL2表达与TNM分期有关(χ^2=6.411,P=0.011);Kaplan-Meier分析显示,与FMNL2低表达组相比,高表达组总生存时间(OS)、无病生存时间(DFS)均明显缩短(47.615 vs 30.125,P=0.01;50.923 vs 41.292,P=0.001);单因素和多因素分析发现FMNL2表达是患者OS的危险因素(HR=3.671,95%CI:1.272~10.591,P=0.016;HR=3.660,95%CI:1.211~11.065,P=0.021);FMNL2在食管癌细胞株中表达高于正常食管上皮细胞;沉默FMNL2能够显著抑制食管癌细胞的增殖、侵袭与迁移能力(P<0.05)。[结论]FMNL2在食管癌发生发展过程中具有重要作用,有望成为食管癌的临床治疗新靶标。展开更多
文摘Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. Design: Institutional review board-approved observational case-co ntrol study. Setting: Infertility center and university hospital. Patient(s): Si xty-two fertile controls and seven subjects with unexplained infertility. Inter vention(s): BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and co mplementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresi s. Main Outcome Measure(s): Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs). Result(s): FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FM P allele frequencies between the controls and subjects. One patient was homozygo us for one FMP. Conclusion(s): The human FMN2 gene is conserved between evolutio narily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identifica tion of patients with meiosis I arrest is necessary to determine whether FMN2 mu tations are a cause of unexplained infertility.
文摘[目的]探究食管癌中同源形成素样蛋白2(Formin-like 2,FMNL2)的表达及其与患者预后的关系,分析其在细胞中的生物学功能。[方法]使用免疫组化分析食管癌患者中FMNL2的表达;Kaplan-Meier分析FMNL2的表达与临床预后的关系,Cox回归模型分析FMNL2在预后中的价值。使用qRT-PCR和Western blot实验检测细胞中FMNL2的表达;使用CCK8和Transwell小室实验分析FMNL2对细胞增殖、侵袭与迁移的影响。[结果]FMNL2在食管癌组织中表达高于癌旁组织(124.395±18.422 vs 37.876±18.266,P<0.05);FMNL2表达与TNM分期有关(χ^2=6.411,P=0.011);Kaplan-Meier分析显示,与FMNL2低表达组相比,高表达组总生存时间(OS)、无病生存时间(DFS)均明显缩短(47.615 vs 30.125,P=0.01;50.923 vs 41.292,P=0.001);单因素和多因素分析发现FMNL2表达是患者OS的危险因素(HR=3.671,95%CI:1.272~10.591,P=0.016;HR=3.660,95%CI:1.211~11.065,P=0.021);FMNL2在食管癌细胞株中表达高于正常食管上皮细胞;沉默FMNL2能够显著抑制食管癌细胞的增殖、侵袭与迁移能力(P<0.05)。[结论]FMNL2在食管癌发生发展过程中具有重要作用,有望成为食管癌的临床治疗新靶标。
