idetification of the genes causing male infertility and habitual abortion by next generation sequencing in human
Project/Area Number |
16K11077
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Obstetrics and gynecology
|
Research Institution | Asahikawa Medical College |
Principal Investigator |
|
Co-Investigator(Kenkyū-buntansha) |
千石 一雄 旭川医科大学, 医学部, 教授 (30163124)
|
Project Period (FY) |
2016-04-01 – 2019-03-31
|
Project Status |
Completed (Fiscal Year 2018)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
Keywords | azoospermia / male infertility / habitual abortion / gene / male ifertility / MA / SCOS / Meiotic Arrest / mutation / Male infertility / 無精子症 / 原因遺伝子 |
Outline of Final Research Achievements |
In this study, identification of the causative genes of male infertility and habitual abortion, which are important causative agents that account for about half of infertility, and genetic elucidation of the pathophysiology of their pathogenesis, in male infertility We aimed to establish a less invasive and accurate diagnostic method and contribute to the improvement of the world of reproductive medicine. To date, exome analysis by next-generation sequencing was performed using DNA from human azoospermia patients, and 12 candidate gene groups responsible for azoospermia due to SCOS and MA were already identified from all human gene groups. All those knockout mice were generated and are currently under functional analysis.
|
Academic Significance and Societal Importance of the Research Achievements |
ヒト男性不妊症の原因遺伝子は多岐にわたるとされているものの、今日まで世界的に原因遺伝子として同定されたのはわずかにおよそ10遺伝子である。 今日までヒト無精子症患者からのDNAを用いて次世代シークエンス法によるエクソーム解析を行い、ヒトの全遺伝子群からすでにSCOS及びMAによる無精子症の原因候補遺伝子群を12個同定できたた。それらすべてのノックアウトマウスを作製し、現在機能解析中である。よって本研究は世界のトップレベルを走っていると自負する。
|
Report
(4 results)
Research Products
(34 results)
-
-
[Journal Article] Association Between Maternal Serum Folate Concentrations in the First Trimester and the Risk of Birth Defects: The Hokkaido Study of Environment and Children's Health.2019
Author(s)
Ito K, Hanaoka T, Tamura N, Sasaki S, Miyashita C, Araki A, Ito S, Minakami H, Cho K, Endo T, Baba T, Miyamoto T, Sengoku K, Tamakoshi A, Kishi R.
-
Journal Title
J Epidemiol.
Volume: 29
Pages: 164-171
NAID
Related Report
Peer Reviewed
-
-
-
[Journal Article] Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health.2018
Author(s)
Hanaoka T, Tamura N, Ito K, Sasaki S, Araki A, Ikeno T, Miyashita C, Ito S, Minakami H, Cho K, Endo T, Baba T, Miyamoto T, Sengoku K, Kishi R
-
Journal Title
J Epidemiol
Volume: 28
Pages: 125-132
NAID
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
[Journal Article] An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.2017
Author(s)
Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N.
-
Journal Title
J Hum Genet.
Volume: 62
Issue: 11
Pages: 997-1000
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
[Journal Article] The Association between Prenatal Yoga and the Administration of Ritodrine Hydrochloride during Pregnancy: An Adjunct Study of the Japan Environment and Children's Study.2016
Author(s)
Kawanishi Y, Saijo Y, Yoshioka E, Nakagi Y, Yoshida T, Miyamoto T, Sengoku K, Ito Y, Miyashita C, Araki A, Kishi R.
-
Journal Title
NAID
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
[Journal Article] A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.2016
Author(s)
Miyamoto T, Bando Y, Koh E, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shiina M, Ogata K, Matsumoto N, Sengoku K.
-
Journal Title
Andrology
Volume: 4
Pages: 75-81
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
[Presentation] マタニティヨガ実践と切迫早産,早産との関連に関する検討(エコチル調査北海道追加調査)(2018
Author(s)
川西 康之, 岸 玲子, 吉岡 英治, 西條 泰明, 吉田 貴彦, 宮本 敏伸, 千石 一雄, 伊藤 善也, 伊藤 佐智子, 宮下 ちひろ, 荒木 敦子
Organizer
日本産科婦人科学会
Related Report
-
-
-
-
-
-
-
-
[Presentation] 当院における腹腔鏡下子宮筋腫核出術の後方視的検討 術後妊娠例を中心に2017
Author(s)
水無瀬 萌, 竹内 肇, 寳田 健平, 市川 英俊, 北 香, 高橋 知昭, 加藤 育民, 片山 英人, 西脇 邦彦, 宮本 敏伸, 千石 一雄
Organizer
日本産科婦人科学会
Related Report
-
-
-
-
-
-