title: Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function.
abstract: Human Mpv17-like protein (M-LPH) has been suggested to play a role in mitochondrial function. In this study, we identified a RhitH (human regulator of heat-induced transcription) binding site in intron 1 of the M-LPH gene. Tissue distribution analysis showed that M-LPH was specifically distributed in tissues with high mitochondrial metabolism. Functional and genetic analyses of nonsynonymous single nucleotide polymorphisms (SNPs) in the RhitH gene revealed that p.Cys461Ser, p.Thr465Ala, and p.Leu495Gln, corresponding to substitutions in the zinc fingers, cause reductions in the repression activity that lead to upregulation of M-LPH expression. The analyses also showed that the minor allele frequencies of these SNPs are extremely low in worldwide populations.
authors.affiliation: Division of Life Science, Faculty of Medical Sciences, University of Fukui , Fukui, Japan . ; Research and Education Program for Life Science, Faculty of Medical Sciences, University of Fukui , Fukui, Japan .
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.affiliation: Division of Medical Genetics & Biochemistry, Faculty of Medical Sciences, University of Fukui , Fukui, Japan .
authors.forename: Misuzu
authors.initials: M
authors.lastname: Ueki
authors.affiliation: Department of Legal Medicine, Center for Integrated Research in Science, Shimane University School of Medicine , Izumo, Japan .
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.affiliation: Department of Legal Medicine, Center for Integrated Research in Science, Shimane University School of Medicine , Izumo, Japan .
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.affiliation: Department of Legal Medicine, Center for Integrated Research in Science, Shimane University School of Medicine , Izumo, Japan .
authors.forename: Kaori
authors.initials: K
authors.lastname: Kimura-Kataoka
authors.affiliation: Research and Education Program for Life Science, Faculty of Medical Sciences, University of Fukui , Fukui, Japan . ; Division of Medical Genetics & Biochemistry, Faculty of Medical Sciences, University of Fukui , Fukui, Japan .
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
keywords: cellular biology; molecular biology