A 16,359 bp mitochondrial genome of collected in a southern part of Korean peninsula was completed and their intraspecies variations were compared with Korean and Chinese mitogenomes. The circular mitogenome of contains 13 protein-coding genes, two rRNA genes, 22 tRNAs, and a single large non-coding region of 1,972 bp. The base composition was AT-biased (77.3%). It has only one single nucleotide polymorphism (SNP) in AT-rich region compared to other Korean mitogenome, but total 41 and 141 SNPs and 118 and 166 insertions and deletions, respectively, compared to two Chinese mitogenomes, suggesting the possibility of tracing migration based on geographic genetic diversity.
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http://dx.doi.org/10.1080/23802359.2019.1624645 | DOI Listing |
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
Department of Genetics, Genomics & Cancer Sciences, University of Leicester, University Road, Leicester, UK. Electronic address:
Kinship determination is a valuable tool in forensic genetics, with applications including familial searching, disaster victim identification, and investigative genetic genealogy. Conventional typing of small numbers of autosomal short tandem repeats (STRs) confidently identifies only first-degree relatives. Massively parallel sequencing (MPS) can access more STRs and resolve alleles identical by length but differing in sequence (isoalleles), which may increase the power of kinship estimation, particularly when combined with additional sequenced single nucleotide polymorphism (SNP) loci, as in the ForenSeq DNA Signature Prep kit.
View Article and Find Full Text PDFDNA Repair (Amst)
January 2025
Departments of Genetics, Cytology and Bioengineering, Voronezh State University, Voronezh, Russia.
Mitochondrial DNA (mtDNA) is often more susceptible to damage compared to nuclear DNA. This is due to its localization in the mitochondrial matrix, where a large portion of reactive oxygen species are produced. Mitochondria do not have histones and mtDNA is only slightly protected by histone-like proteins and is believed to have less efficient repair mechanisms.
View Article and Find Full Text PDFGenome Biol Evol
January 2025
Department of Molecular and Cell Biology, University of California-Merced, Merced, CA 95343.
Eukaryotic genome size varies considerably, even among closely related species. The causes of this variation are unclear, but weak selection against supposedly costly "extra" genomic sequences has been central to the debate for over 50 years. The mutational hazard hypothesis, which focuses on the increased mutation rate to null alleles in superfluous sequences, is particularly influential, though challenging to test.
View Article and Find Full Text PDFNat Cardiovasc Res
January 2025
Shanghai Fifth People's Hospital and Institutes of Biomedical Sciences Zhongshan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Thoracic and abdominal aortic aneurysm poses a substantial mortality risk in adults, yet many of its underlying factors remain unidentified. Here, we identify mitochondrial nicotinamide adenine dinucleotide (NAD)⁺ deficiency as a causal factor for the development of aortic aneurysm. Multiomics analysis of 150 surgical aortic specimens indicated impaired NAD salvage and mitochondrial transport in human thoracic aortic aneurysm, with expression of the NAD transporter SLC25A51 inversely correlating with disease severity and postoperative progression.
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