Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genome

从另一个角度探讨青光眼的遗传因素：基因组拷贝数变异（CNV）可能参与的分析

• 批准号: 23592562
• 负责人: MINOSHIMA Shinsei
• 金额: $ 3.33万
• 依托单位: Hamamatsu University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23592562/
• 关键词: 開放隅角緑内障; 正常眼圧緑内障; コピー数多型; CNV; ゲノムワイド解析; マイクロアレイ; 欠失; 重複; 高眼圧症

To detect the genomic copy number variation(s) (CNV) which affect the onset of primary open-angle glaucoma (POAG), 44 members from 34 families with the disease were subjected to the microarray assay. Of 1195 CNV loci found, 8 (6 sites of deletion and 2 of duplication) of patients-specific ones were novel or very rare and considered to change the dosage of gene. Deletion loci contained 7 genes and duplication ones 5 genes. These 12 genes possibly cause POAG by the abnormal increase or decrease of gene copy number.

为检测原发性开角型青光眼（primary open-angle glaucoma，POAG）发病的基因组拷贝数变异（genomic copy number variation，CNV），对34个POAG家系的44名成员进行了基因芯片检测。在所发现的1195个CNV位点中，有8个（6个缺失位点和2个重复位点）是新的或非常罕见的，被认为是改变基因剂量的。缺失位点有7个基因，重复位点有5个基因。这12个基因可能通过基因拷贝数的异常增加或减少引起POAG。

项目成果

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

• DOI: 10.1371/journal.pone.0031036
• 发表时间: 2012
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Hosono K;Ishigami C;Takahashi M;Park DH;Hirami Y;Nakanishi H;Ueno S;Yokoi T;Hikoya A;Fujita T;Zhao Y;Nishina S;Shin JP;Kim IT;Yamamoto S;Azuma N;Terasaki H;Sato M;Kondo M;Minoshima S;Hotta Y
• 通讯作者: Hotta Y

Clinical features of a Japanese case with Bothnia dystrophy

日本波尼亚营养不良病例的临床特征

• DOI: 10.3109/13816810.2011.634877
• 发表时间: 2012
• 期刊: Ophthalmic Genet
• 影响因子: 1.2
• 作者: Nojima K;Hosono K;Zhao Y;Toshiba T;Hikoya A;Asai T;Kato M. Kondo M;Minoshima S;Hotta Y
• 通讯作者: Hotta Y

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

• DOI: 10.1038/jhg.2011.45
• 发表时间: 2011-07-01
• 期刊: JOURNAL OF HUMAN GENETICS
• 影响因子: 3.5
• 作者: Nakanishi, Hiroshi;Ohtsubo, Masafumi;Minoshima, Shinsei
• 通讯作者: Minoshima, Shinsei

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene

• DOI: 10.3109/13816810.2013.768673
• 发表时间: 2014-03-01
• 期刊: OPHTHALMIC GENETICS
• 影响因子: 1.2
• 作者: Suto, Kimiko;Hosono, Katsuhiro;Hotta, Yoshihiro
• 通讯作者: Hotta, Yoshihiro

Prediction of protein-destabilizing polymorphisms by manual curation with protein structure.

• DOI: 10.1371/journal.pone.0050445
• 发表时间: 2012
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Gough CA;Homma K;Yamaguchi-Kabata Y;Shimada MK;Chakraborty R;Fujii Y;Iwama H;Minoshima S;Sakamoto S;Sato Y;Suzuki Y;Tada-Umezaki M;Nishikawa K;Imanishi T;Gojobori T
• 通讯作者: Gojobori T