Production of full length alpha-actinin-3 protein from ACTN3 gene X genotype

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K13015
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Sports science
• Research Institution: The University of Tokushima
• Principal Investigator: HARADA Nagakatsu 徳島大学, 大学院医歯薬学研究部(医学系), 講師 (40359914)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: ACTN3 / alpha-actinin-3 / リードスルー / スポーツ / パワー・瞬発系 / R577X / 遺伝子多型 / アミノグリコシド系抗生物質

Outline of Final Research Achievements

A nonsense mutation of the ACTN3 gene generates a premature termination codon (PTC) and produces R/X polymorphism in humans. Since the X mRNA which contains a PTC is degraded by the cellular nonsense-mediated mRNA decay (NMD) system, ACTN3 XX genotype does not produce alpha-actinin-3 protein. Here we show that the readthrough drugs such as aminoglycosides could produce a full-length alpha-actinin-3 protein from the ACTN3 X gene.

Free Research Field

代謝栄養学、分子生物学