Molecular genetic study of normal morphological variants

正常形态变异的分子遗传学研究

• 批准号: 22390066
• 负责人: NIIKAWA Norio
• 金额: $ 11.56万
• 依托单位: Health Sciences University of Hokkaido
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22390066/
• 关键词: 遺伝学; 遺伝子; ヒトゲノム; ヒト正常形質; 遺伝形質; 多型; 連鎖解析; 関連解析

Various normal variants, such as tongue curling/flat tongue, widow's peak/flat anterior hairline, hand clasping patterns, arm folding patterns, attached/unattached earlobes and single/double-edged eyelids, are studied in 174 adult volunteers. GWAS was then performed between these variants and 440,794 SNPs in the genome. Under an autosomal dominant model, it seemed that only arm-folding-patterns are associated with SNPs in the SPEN gene. However, sequence analysis of all exons of SPEN in 93 individuals with the "right" arm folding and 80 with the "left" arm folding revealed no SNPs or mutations that differentiate the two groups. There were no associations between any variants and SNPs. The results indicated that the variants studied are not determined by any single-genes.

研究人员对 174 名成年志愿者进行了各种正常变异的研究，例如卷舌/平舌、寡妇峰/平前发际线、握手模式、手臂折叠模式、耳垂附着/分离以及单眼/双眼皮。然后在这些变体和基因组中的 440,794 个 SNP 之间进行 GWAS。在常染色体显性模型下，似乎只有手臂折叠模式与 SPEN 基因中的 S​​NP 相关。然而，对 93 名具有“右”臂折叠的个体和 80 名具有“左”臂折叠的个体的 SPEN 所有外显子的序列分析显示，没有区分这两个群体的 SNP 或突变。任何变异和 SNP 之间都没有关联。结果表明，所研究的变异不是由任何单基因决定的。

项目成果

Mutations in PRRT2responsible for paroxysmal kinesinic dyskinesias also cause benign familial infantile convulsions

PRRT2 突变导致阵发性运动障碍，也会引起良性家族性婴儿惊厥

• 发表时间: 2012
• 期刊: J Hum Genet
• 影响因子: 3.5
• 作者: Ono S;Yoshiura K;Kinoshita A;Kikuchi T;Nakane Y;Kato N;Sadamatsu M;Konishi T;Nagamitsu S;Matsuura M;Yasuda A;Komine M;Kanai K;Inoue T;Osamura T;Saito K;Hirose S;Koide H;Tomita H;Ozawa H;Niikawa N;Kurotaki N
• 通讯作者: Kurotaki N

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

• DOI: 10.3389/fgene.2012.00306
• 发表时间: 2012
• 期刊: Frontiers in genetics
• 影响因子: 3.7
• 作者: Ishikawa T;Toyoda Y;Yoshiura K;Niikawa N
• 通讯作者: Niikawa N

KDM6A Point Mutations Cause Kabuki Syndrome

• DOI: 10.1002/humu.22229
• 发表时间: 2013-01-01
• 期刊: HUMAN MUTATION
• 影响因子: 3.9
• 作者: Miyake, Noriko;Mizuno, Seiji;Matsumoto, Naomichi
• 通讯作者: Matsumoto, Naomichi

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

• DOI: 10.1002/ajmg.a.34074
• 发表时间: 2011-07
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Hannibal, Mark C.;Buckingham, Kati J.;Ng, Sarah B.;Ming, Jeffrey E.;Beck, Anita E.;McMillin, Margaret J.;Gildersleeve, Heidi I.;Bigham, Abigail W.;Tabor, Holly K.;Mefford, Heather C.;Cook, Joseph;Yoshiura, Koh-ichiro;Matsumoto, Tadashi;Matsumoto, Naomichi;Miyake, Noriko;Tonoki, Hidefumi;Naritomi, Kenji;Kaname, Tadashi;Nagai, Toshiro;Ohashi, Hirofumi;Kurosawa, Kenji;Hou, Jia-Woei;Ohta, Tohru;Liang, Deshung;Sudo, Akira;Morris, Colleen A.;Banka, Siddharth;Black, Graeme C.;Clayton-Smith, Jill;Nickerson, Deborah A.;Zackai, Elaine H.;Shaikh, Tamim H.;Donnai, Dian;Niikawa, Norio;Shendure, Jay;Bamshad, Michael J.
• 通讯作者: Bamshad, Michael J.

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

• DOI: 10.1038/ng.646
• 发表时间: 2010-09
• 期刊: Nature genetics
• 影响因子: 30.8