Deleterious effect to human genes by meiotic recombination

减数分裂重组对人类基因的有害影响

• 批准号: 22710190
• 负责人: MAKINO Takashi
• 金额: $ 2.58万
• 依托单位: Tohoku University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22710190/
• 关键词: 相同組替え; 疾患関連遺伝子

The results in this study suggest that those functional regions of the human genome which are subject to high recombination rates may experience an elevated rate of deleterious point mutation and hence are more likely to become implicated in inherited disease, particularly in the case of those diseases that are caused by rare genomic variants.

这项研究的结果表明，人类基因组中那些重组率高的功能区域可能会经历有害点突变率的升高，因此更有可能与遗传性疾病有关，特别是在由罕见基因组变异引起的疾病中。

项目成果

Ohnologs in the human genome are dosage balanced and frequently associated with disease

• DOI: 10.1073/pnas.0914697107
• 发表时间: 2010-05-18
• 期刊: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
• 影响因子: 11.1
• 作者: Makino, Takashi;McLysaght, Aoife
• 通讯作者: McLysaght, Aoife

脊椎動物ゲノムにおけるコピー数多型コールドスポット

脊椎动物基因组中的拷贝数变异冷点

• 发表时间: 2011
• 作者: Tezuka;A.N.Matsushima;Y.Nemoto;H.D.Akashi;M.Kawata;T.Makino;Takashi Makino;Takashi Makino;牧野能士
• 通讯作者: 牧野能士

Comprehensive primer design for analysis of population genetics in non-sequenced organisms.

• DOI: 10.1371/journal.pone.0032314
• 发表时间: 2012
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Tezuka A;Matsushima N;Nemoto Y;Akashi HD;Kawata M;Makino T
• 通讯作者: Makino T

Drosophila species distributions correlate with their genomic structure

果蝇物种分布与其基因组结构相关

• 发表时间: 2011
• 作者: Tezuka;A.N.Matsushima;Y.Nemoto;H.D.Akashi;M.Kawata;T.Makino;Takashi Makino;Takashi Makino;牧野能士;Makino T and Kawata M
• 通讯作者: Makino T and Kawata M

Genome-wide coldspots for gene copy number variation in vertebrates

脊椎动物基因拷贝数变异的全基因组冷点

• 发表时间: 2011
• 作者: Tezuka;A.N.Matsushima;Y.Nemoto;H.D.Akashi;M.Kawata;T.Makino;Takashi Makino
• 通讯作者: Takashi Makino