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

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 i...

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Autores principales: Iida, Reiko, Ueki, Misuzu, Fujihara, Junko, Takeshita, Haruo, Kimura-Kataoka, Kaori, Yasuda, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc. 2013
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869441/
https://www.ncbi.nlm.nih.gov/pubmed/24380054
http://dx.doi.org/10.1089/biores.2013.0042
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author Iida, Reiko
Ueki, Misuzu
Fujihara, Junko
Takeshita, Haruo
Kimura-Kataoka, Kaori
Yasuda, Toshihiro
author_facet Iida, Reiko
Ueki, Misuzu
Fujihara, Junko
Takeshita, Haruo
Kimura-Kataoka, Kaori
Yasuda, Toshihiro
author_sort Iida, Reiko
collection PubMed
description 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.
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spelling pubmed-38694412013-12-30 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 Iida, Reiko Ueki, Misuzu Fujihara, Junko Takeshita, Haruo Kimura-Kataoka, Kaori Yasuda, Toshihiro Biores Open Access Original Research Articles 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. Mary Ann Liebert, Inc. 2013-12-01 /pmc/articles/PMC3869441/ /pubmed/24380054 http://dx.doi.org/10.1089/biores.2013.0042 Text en Copyright 2013, Mary Ann Liebert, Inc.
spellingShingle Original Research Articles
Iida, Reiko
Ueki, Misuzu
Fujihara, Junko
Takeshita, Haruo
Kimura-Kataoka, Kaori
Yasuda, Toshihiro
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Original Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869441/
https://www.ncbi.nlm.nih.gov/pubmed/24380054
http://dx.doi.org/10.1089/biores.2013.0042
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