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The trait-specific timing of accelerated genomic change in the human lineage.
Cell Genom
January 2025
Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA; Department of Statistics and Data Science, The University of Texas at Austin, Austin, TX, USA. Electronic address:
Humans exhibit distinct characteristics compared to our primate and ancient hominin ancestors. To investigate genomic bursts in the evolution of these traits, we use two complementary approaches to examine enrichment among genome-wide association study loci spanning diseases and AI-based image-derived brain, heart, and skeletal tissue phenotypes with genomic regions reflecting four evolutionary divergence points. These regions cover epigenetic differences among humans and rhesus macaques, human accelerated regions (HARs), ancient selective sweeps, and Neanderthal-introgressed alleles.
View Article and Find Full Text PDFHaplotype-Based Approach Represents Locus Specificity in the Genomic Diversification Process in Humans ().
Genes (Basel)
November 2024
Center for Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan.
Background/objectives: Recent progress in evolutionary genomics on human () populations has revealed complex demographic events and genomic changes. These include population expansion with complicated migration, substantial population structure, and ancient introgression from other hominins, as well as human characteristics selections. Nevertheless, the genomic regions in which such evolutionary events took place have remained unclear.
View Article and Find Full Text PDFMiddle Pleistocene teeth from Arbreda Cave (Serinyà, northeastern Iberian Peninsula).
Am J Biol Anthropol
December 2024
Facultat de Lletres, Institut de Recerca Històrica, Universitat de Girona, Girona, Spain.
Objectives: We report the discovery and description of three human teeth from the Middle Paleolithic archaeological levels of Arbreda Cave (Serinyà, Catalonia, NE Iberian Peninsula).
Materials And Methods: The teeth, two molars (one right dm and one right M) from Level N (older than 120 kyr) and one P from Level J (dated between 71 and 44 kyr), were morphologically described based on microCT images and compared with Neanderthal and Homo sapiens specimens.
Results: The teeth belong to a minimum of three individuals: one adult and one infant from Level N and one juvenile from Level J.
Investigation of RNA-binding protein NOVA1 in silico: Comparison of the modern human V197 with the archaic I197 variant present in Neanderthals.
Comput Biol Med
December 2024
Epigenetics in Human Health and Disease Program, Baker Heart and Diabetes Institute, 75 Commercial Road, Prahran, VIC, 3004, Australia; yΘμ Study Group, ProspED Polytechnic, Carlton, VIC, 3053, Australia; Baker Department of Cardiometabolic Health, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia. Electronic address:
Article Synopsis
- Researchers have identified specific genetic differences between archaic and modern human genomes, notably a switch in the NOVA1 gene linked to RNA regulation in neurons, changing an amino acid from isoleucine to valine.
- Using advanced modeling techniques, they compared the structures and binding interactions of the archaic and modern NOVA1 variants, finding similar binding free energies for protein-RNA complexes.
- The study suggests that although structural changes are modest, more research is needed to understand how mutations in NOVA1 affect alternative splicing and contribute to diseases, especially considering the roles of multiple mutations.
The dentition of a new adult Neanderthal individual from Grotte Mandrin, France.
J Hum Evol
November 2024
Univ. Bordeaux, CNRS, MCC, PACEA, UMR 5199, F-33600 Pessac, France. Electronic address:
Grotte Mandrin is located in the middle Rhône River Valley, in Mediterranean France, and has yielded 11 Pleistocene archeological and paleoanthropological layers (ranging from the oldest layer J to the youngest layer B) dating from Marine Isotope Stage (MIS) 5 to MIS 3. We report here the nearly complete dentition of an adult Neanderthal individual, nicknamed 'Thorin,' associated to the last phase of the Post-Neronian II, in layer B2 (∼44.50-42.
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