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Objective Based on the cancer Genome Atlas（TCGA）database，we used the bioinformatics methods to analyze the expression changes of SOX11 in breast cancer，observed the the relationship between SOX11 and clinicopatho‐ logical parameters and prognosis of patients，and analyzed the related regulatory pathways involved in the occurrence and development of breast cancer. Methods SOX11 transcriptomic data and clinicopathological information of patients in breast cancer were downloaded from the cancer genome atlas（TCGA）database. The expression of SOX11 in breast cancer tissues and normal breast tissues was extracted and compared by R program. Taking the median SOX11 expression value （5. 5423）as the limit，897 breast cancer patients with complete clinical data were divided into 459 patients with high SOX11 expression and 438 patients with low SOX11 expression. The clinicopathological parameters（age，Stage，T Stage， lymphatic metastasis，and M Stage）and overall survival（OS），disease-free interval（DFI），disease-specific survival （DSS），and progression-free interval（PFI）were compared between patients with high and low SOX11 expression. The protein-protein interaction（PPI）network diagram was constructed to screen the core genes interacting with SOX11，and Gene Ontology（GO）function and Kyoto Encyclopedia of Genes and Genomes（KEGG）pathway enrichment analysis were performed. Results The expression of SOX11 in the breast cancer tissues was higher than that in normal breast tissues， the expression of SOX11 in Her-2 overexpressed and Basal-like breast cancer tissues was higher than that in Luminal A， Luminal B and Normal-like breast cancer tissues（all P<0. 05）. The proportions of age ≤58 years and T1-T2 stage in patients with high SOX11 expression were higher than those of patients with low SOX11 expression，while DSS and PFI were lower than those of patients with low expression（all P<0. 05）. There were no statistical differences in the proportions of Stage，lymphatic metastasis，M Stage or OS，DFI between patients with high and low expression of SOX11（all P>0. 05）. After the construction of PPI network，313 core genes of SOX11 interaction were obtained，mainly including paired box 6 （PAX6），Zinc finger protein 2 （ZIC2），activating transcription factor 3 （ATF3），Quiescin sulfhydryl oxidase 1 （QSOX1），long non-coding RNA POU3F3，etc. GO functional analysis showed that the interacting genes in PPI network were mainly involved in the biological processes and functions related to cell cycle and cell division. KEGG pathway enrichment analysis showed that the interaction genes in PPI network were mainly enriched in P53，human epidermal growth factor receptor 2（Her-2），FOXO and other signaling pathways. Conclusions The expression of SOX11 is elevated in breast cancer tissues，especially in Her-2 overexpressed and basal-like breast cancer tissues. These results suggest that high expression of SOX11 may promote the development and progression of breast cancer and suggest poor prognosis of patients through p53，Her-2，and FOXO and other signaling pathways. [ABSTRACT FROM AUTHOR]

【目的】 研究中国人Ｐｅｔｅｒｓ’异常患者Ｓｏｘ１１及ＣＹＰ１Ｂ１基因变异情况。【方法】 从眼遗传疾病库中选取１３例Ｐｅｔｅｒｓ’异常的先证者以及１００例正常对照，采用直接测序的方法分析Ｓｏｘ１１及ＣＹＰ１Ｂ１基因的外显子及其相邻内含子基因变异情况；通过测序识别的基因突变，使用ＨＡ－ＳＳＣＰ分析的方法，在１００例正常对照中做进一步评估。筛查中国人群Ｐｅｔｅｒｓ’异常患者Ｓｏｘ１１及ＣＹＰ１Ｂ１基因基因变异，并研究其相关表型。【结果】 在１３例Ｐｅｔｅｒｓ’异常的患者中检测到一个Ｓｏｘ１１同义突变，一个ＣＹＰ１Ｂ１错义突变，在正常对照中未发现此基因突变。【结论】 本研究首次对Ｐｅｔｅｒｓ’异常患者进行Ｓｏｘ１１进行基因筛查，并验证了ＣＹＰ１Ｂ１是Ｐｅｔｅｒｓ’异常的致病基因之一，进一步扩大了Ｐｅｔｅｒｓ’异常患者ＣＹＰ１Ｂ１基因突变的突变频谱，增加了我们对基因型与表型之间关系的认识，并有望为将来该疾病致病机制的基因学及功能学方面的研究提供基础。

Objective: To study the effect of the schizophrenia susceptible gene Sox11 on the migration of cortical neurons using mice as experimental animals. Methods: The real-time quantitative PCR and in situ hybridization were used to clarify the expression pattern of Sox11 in the cerebral cortex during development (E14.5, P0, P7, P14). The techniques of plasmid construction, transfection, in utero electroporation and immunostaining were used to explore the role of Sox11 in the neuronal radial migration by transfecting control shRNA plasmid, mSox11 shRNA plasmid and mSox11 shRNA post-interference recovery plasmid in mice of different ages (E17.5, P0, P4, P7). Results: Compared with control neurons, the migration of mSox11 shRNA transfected neurons was delayed significantly. When a part of the neurons in the control group had reached the surface of the neocortex, most of the neurons transfected with mSox11 shRNA remained in the middle area of the neocortex. After the rat Sox11 ( rSox11 ) gene overexpression vector was used to recuse the mouse Sox11 ( mSox11 ) gene interference in mice, the distribution of neurons after migration was basically the same as the control. The distribution of migrating neurons in the subventricular zone (SVZ), intermediate zone (IZ), and cortical plate (CP) was different significantly ( P ＜0.01) after Sox11 interference and recovery. Conclusion: Sox11 can promote the migration of cortical neurons, suggesting that Sox11 plays a crucial role in the migration process of mouse cortical neurons.

Objective: Investigate the expression of SRY-related HMG box 11 (SOX11) and paired box domain 5 (PAX5) in patients with mantle cell lymphoma (MCL) and analyze the relationship between them and their clinical significance., Methods: Seventy-six formalin-fixed paraffin-embedded (FFPE) samples of patients who were diagnosed with MCL from January 2012 to August 2017 were collected．Fifty-six FFPE samples from patients with diffuse large B cell lymphoma (DLBCL), thirty-eight FFPE samples from patients with follicular lymphoma (FL) and nine FFPE samples from patients with Burkitt's lymphoma (BL) were used as control groups. Real-time quantitative PCR (qRT-PCR) and immunohistochemistry were used to detect the mRNA and protein expressions of SOX11 and PAX5. The association between expressions of SOX11 and PAX5 in patients with MCL was analyzed. On the basis of the median H score of SOX11 and PAX5 protein expressions in patients with MCL, they were divided into high and low expression group, and the relationship between the different groups and patients' clinical characteristics and prognosis were analyzed., Results: The different mRNA expression levels of SOX 11 and PAX 5 in different lymphoma tissues were statistically significant ( P <0.01). The mRNA expression levels of SOX 11 and PAX 5 in MCL group were higher than those of the control groups, and the differences of those between MCL and DLBCL or FL were statistically significant ( P <0.01). However, the differences of those between MCL and BL were not significant ( P >0.05). The expression level of SOX11 protein was also higher than those of the control groups ( P <0.000 1). However, there was no significant difference in PAX5 protein expression level between the MCL group and the control group, nor the expression levels of SOX11 and PAX5 genes and proteins among the control groups ( P >0.05). By analyzing the samples from patients with MCL, we observed a positive relevance between SOX11 and PAX5 both in mRNA expression level ( r s =0.714, P <0.000 1) and protein expression level ( G =0.407, P =0.01). There was no difference in clinical characteristics and overall survival between the high and low expression group., Conclusion: In MCL, there was a positive relevance between the expressions of SOX11 and PAX5. The expression of SOX11 or PAX5 alone has no significant effect on the prognostic stratification of MCL patients., (Copyright© by Editorial Board of Journal of Sichuan University (Medical Science Edition).)