Benign and conserved DNA variants m.8860A>G and m.8701A>G indicating mitochondrial genetic drift in Pakistani population

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-08-22 DOI:10.1016/j.genrep.2024.102016

Mishal Tariq, Sheza Javaid, Fatima Mohsin, Gull e lalah Saleem, Muhammad Mustafa

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引用次数: 0

Abstract

Background

Mitochondria are vital subcellular organelles that orchestrate the intricate process of oxidative phosphorylation (OXPHOS), generating adenosine triphosphate (ATP) as the primary energy molecule fueling cellular activities. During our research on mitochondrial mutations in breast cancer patients, we identified two notable single nucleotide polymorphisms (SNPs) present in both cancer patients and control individuals from the Pakistani population.

Materials and methods

DNA was extracted from the blood samples of 30 individuals, and MT-ATP8 and MT-ATP6 were amplified using PCR with specific primers. Purified PCR products were sequenced and analyzed for mutations using SnapGene and BioEdit. Bioinformatics tools, Consurf and PolyPhen-2, were used to analyze the genetic variants and their impact on protein function and stability.

Results

The analysis revealed two significant mutations in MT-ATP6 gene i.e., m.8860A>G (found in all 30 out of 30 samples) which results in the variant p.(Thr112Ala) and m.8701A>G (found in 13 out of 30 samples) which results in the variant p.(Thr59Ala). PolyPhen-2 analysis reveals the benign nature of both mutations, suggesting that the sequence variants are unlikely to cause any adverse effects on protein structure and function.

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显示巴基斯坦人口线粒体基因漂移的良性保守 DNA 变异 m.8860A>G 和 m.8701A>G

背景线粒体是重要的亚细胞器，负责协调复杂的氧化磷酸化（OXPHOS）过程，产生三磷酸腺苷（ATP），作为细胞活动的主要能量分子。在对乳腺癌患者线粒体突变的研究中，我们发现了两个显著的单核苷酸多态性（SNPs），这两个单核苷酸多态性同时存在于癌症患者和巴基斯坦人群的对照个体中。使用 SnapGene 和 BioEdit 对纯化的 PCR 产物进行测序和突变分析。结果分析发现，MT-ATP6 基因有两个显著的突变，即 m.8860A>G（在 30 个样本中的 30 个样本中都发现了）和 m.8701A>G（在 30 个样本中的 13 个样本中都发现了），前者导致变异 p.(Thr112Ala)，后者导致变异 p.(Thr59Ala)。PolyPhen-2 分析显示，这两种变异都是良性的，表明序列变异不太可能对蛋白质的结构和功能造成任何不利影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.