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Genetic differences between human populations are typically larger for the Y-chromosome than for mitochondrial DNA (mtDNA), which has been attributed to the ubiquity of patrilocality across human cultures. However, this claim has been disputed, and previous analyses of matrilocal groups give conflicting results. Here we analyse mtDNA variation (complete mtDNA genome sequences via next-generation sequencing) and non-recombining regions of the Y-chromosome variation (Y-single-nucleotide-polymorphisms and Y-short-tandem-repeats (STR)) in a matrilocal group (the Semende) and a patrilocal group (the Besemah) from Sumatra. We find in the Semende significantly lower mtDNA diversity than in the Besemah as expected for matrilocal groups, but unexpectedly we find no difference in Y-chromosome diversity between the groups. We highlight the importance of using complete mtDNA sequences for such analyses, as using only partial sequences (as done in previous studies) can give misleading results.
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http://dx.doi.org/10.1038/ncomms1235 | DOI Listing |
Metabolomics
September 2025
Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, Angers, France.
Introduction: The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery.
Objectives: Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset.
Methods And Results: The blood and tear metabolomic profiles of 90 asymptomatic LHON mutation carriers followed for one year will be explored as a function of RNFL thickness and compared to those of a healthy control.
Hum Genet
September 2025
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, China.
Recessive variants in TWNK cause syndromes arising from mitochondrial DNA (mtDNA) depletion. Hearing loss is the most prevalent manifestation in individuals with these disorders. However, the clinical and pathophysiological features have not been fully elucidated.
View Article and Find Full Text PDFJ Hered
September 2025
Institute of Fishery Science, Hangzhou Academy of Agricultural Sciences, Hangzhou 310024, China.
Nuclear mitochondrial DNA segments (NUMTs), which are mitochondrial DNA fragments integrated into the nuclear genome, serve as markers of evolutionary history. This study aims to enhance the detection and analysis of NUMTs by developing a script named NUMTsearcher. Utilizing the latest chromosome-level genome assemblies from various species, including human, rabbit, and six fish species, the study compares NUMTsearcher's performance against traditional methods such as LAST (Local Alignment Search Tool), BLAST (Basic Local Alignment Search Tool), BLAT (BLAST-Like Alignment Tool), and the pan-mitogenome approach, which integrates mitogenomes from diverse sources to identify fixed NUMTs in the nuclear genome.
View Article and Find Full Text PDFZool Res
September 2025
College of Life Science and Technology, Jinan University, Guangzhou, Guangdong 510632, China. E-mail:
The big-headed turtle ( ), currently the only extant member of the genus and the family Platysternidae, has undergone severe population declines driven by poaching, illegal trade, and habitat loss, leading to its classification as Critically Endangered (CR) by the International Union for Conservation of Nature (IUCN). Despite its conservation status, persistent taxonomic ambiguities and unresolved phylogenetic relationships have hindered effective protection and management. This study integrated evidence from genome-wide single nucleotide polymorphisms (SNPs), mitochondrial DNA sequences ( , ), and morphological data to reconstruct the phylogeny and phylogeography of and revise its taxonomy.
View Article and Find Full Text PDFAutophagy
September 2025
Department of General Surgery (Colorectal Surgery), The Sixth Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Immune checkpoint inhibitors (ICIs) can re-active the immune response and induce a complete response in mismatch repair-deficient and microsatellite instability-high (dMMR/MSI-H) colorectal cancer (CRC). However, most CRCs exhibit proficient mismatch repair and microsatellite stable (pMMR/MSS) phenotypes with limited immunotherapy response because of sparse intratumoral CD8 T-lymphocyte infiltration. Cellular senescence has been reported to involve immune cell infiltration through a senescence-associated secretory phenotype (SASP).
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