Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

Rewiring cell signalling pathways in pathogenic mtDNA mutations

CY Chung, GE Valdebenito, AR Chacko… - Trends in Cell Biology, 2022 - cell.com
Mitochondria generate the energy to sustain cell viability and serve as a hub for cell
signalling. Their own genome (mtDNA) encodes genes critical for oxidative phosphorylation …

Mitochondrial DNA genomes reveal relaxed purifying selection during human population expansion after the last glacial maximum

HX Zheng, S Yan, M Zhang, Z Gu… - Molecular Biology and …, 2024 - academic.oup.com
Modern humans have experienced explosive population growth in the past thousand years.
We hypothesized that recent human populations have inhabited environments with …

Ancient mitogenomes reveal the origins and genetic structure of the neolithic Shimao population in northern China

J Xue, W Wang, J Shao, X Dai, Z Sun… - Frontiers in …, 2022 - frontiersin.org
Shimao City is considered an important political and religious center during the Late
Neolithic Longshan period of the Middle Yellow River basin. The genetic history and …

Early foraging settlement of the Tibetan Plateau highlands

DB Madsen, C Perreault, D Rhode, Y Sun, M Yi… - … Research in Asia, 2017 - Elsevier
We identified and dated 18 occupational events at eight sites dating to~ 14.7–10.8
kiloannum before present (ka BP) during a decade of archaeological survey and excavation …

Genomic history and forensic characteristics of Sherpa highlanders on the Tibetan Plateau inferred from high-resolution InDel panel and genome-wide SNPs

M Wang, W Du, R Tang, Y Liu, X Zou, D Yuan… - Forensic Science …, 2022 - Elsevier
Sherpa people, one of the high-altitude hypoxic adaptive populations, mainly reside in
Nepal and the southern Tibet Autonomous Region. The genetic origin and detailed …

Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing

M Wang, Z Wang, G He, S Wang, X Zou, J Liu… - Forensic Science …, 2020 - Elsevier
Mitochondrial DNA (mtDNA) is a key player in numerous multifaceted and intricate biological
processes and plays a pivotal role in dissecting the peopling of different populations, due to …

Using weighted gene co-expression network analysis (WGCNA) to identify the hub genes related to hypoxic adaptation in yak (Bos grunniens)

Q Bao, X Zhang, P Bao, C Liang, X Guo, M Chu… - Genes & genomics, 2021 - Springer
Background As a mammal living at the highest altitude in the world, the yak has strong
adaptability to the harsh natural environment (such as low temperature, scarce food …

Uniparental genetic markers in Native Americans: A summary of all available data from ancient and contemporary populations

R Bisso‐Machado… - American Journal of …, 2021 - Wiley Online Library
Objectives The aim of this study was to create a comprehensive summary of available
mtDNA and Y‐chromosome data for Native Americans from North, Central, and South …

Can the MT-CO2 gene surprise us with something?–A review of variants considered as pathogenic by identifying conserved sites

S Skoczylas, T Płoszaj, A Zmysłowska - Ecological Genetics and Genomics, 2024 - Elsevier
Background Cytochrome oxidase subunit II is encoded by the MT-CO2 gene and belongs to
a large internal membrane complex called cytochrome c oxidase. To date, no pathogenic …