The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation

Yen Tzu Tseng, Shang Wei Li, Wei Chun HuangFu, Yun Yen, I. Hsuan Liu

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1 引文 斯高帕斯(Scopus)


Background: Mitochondrial DNA maintenance defects (MDMDs) is one of the critical pediatric dysfunction. One of the recent report indicated that a severe patient of MDMDs carries the NP_056528.2:p.Asn221Ser (N221S) variation in the RRM2B gene (NM_015713.5). However, there is no direct evidence demonstrating the nature of the N221S variation. Materials and Methods: This study aimed to utilize zebrafish and morpholino oligomer (MO) knockdown technique to provide direct evidence for the nature of the N221S variation in the RRM2B. Results: The results showed that two distinct MOs were both able to perturb the expression of rrm2b in zebrafish and dose-dependently induced morphological defects. Furthermore, co-injection of human wild-type RRM2B mRNA with MO-e4i4 successfully rescued the developmental defects, whereas co-injection of RRM2B/N221S mRNA with MO-e4i4 did not rescue the developmental defects. Conclusion: In conclusion, the functional assay in this study provided the direct evidence proving that the N221S variation is a loss-of-function mutation and plausibly related to the pathogenic developmental defects found in the infants of previous clinical reports.

期刊Molecular Genetics and Genomic Medicine
出版狀態已發佈 - 2020

ASJC Scopus subject areas

  • 分子生物學
  • 遺傳學
  • 遺傳學(臨床)


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