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2017 Fiscal Year Final Research Report

Identification of CDK2 and CDK3 as new causative genes for Multiple Endocrine Neoplasia type 1

Research Project

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Project/Area Number 16K19551
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Endocrinology
Research InstitutionGunma University

Principal Investigator

Horiguchi Kazuhiko  群馬大学, 医学部附属病院, 医員 (10737943)

Research Collaborator YAMADA Masanobu  
SATOH Tetsuro  
Project Period (FY) 2016-04-01 – 2018-03-31
Keywords多発性内分泌腫瘍症1型 / 細胞周期調節因子 / 遺伝子変異
Outline of Final Research Achievements

In this study, the newly discovered M196T mutation of CDK2 gene, R122W mutation, and P204S mutation of CDK3 gene can actually cause the disease as a candidate of new causative gene mutation of Multiple endocrine neoplasia type 1. As a result of the study using stable expression cell lines, M196T mutation, R122W mutation, it was found that these mutations did not affect the proliferation of the cell. Therefore, it was not considered to be the cause of the onset of Multiple endocrine neoplasia type 1. Since the preparation of stable expression cell lines of CDK3 gene wild type was difficult, the stable cell line of P204S mutation was compared with stable expression cell lines that express benign SNP. As a result, P204S mutation, as compared with SNP stable expression cell lines, to activate the cell cycle, it was revealed to increase the cell proliferation ability. Therefore, CDK3 gene p204s mutation was found to be a cause of tumor onset of Multiple endocrine neoplasia type 1.

Free Research Field

内分泌代謝内科学

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Published: 2019-03-29  

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