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Chen, J, Ji, X, Zhang, C., Ji, Y, Yang, J, Wang, H, Ji, Y, Huang, Y
Review of Palaeobotany and Palynology
, 2025
Toddalia Juss. is a genus in Rutaceae, with a modern geographical range that extends from West and East Africa to South, East and Southeast Asia. The genus has a good fossil record in Europe, where it has become extinct, but is poorly represented in the geological record of Asia, where it flourishes today. This study reports the second fossil record of Toddalia in Asia, based on three-dimensional seed remains recovered from the latest Miocene Baoshan Basin in western Yunnan, southwestern China. The fossil seeds are characterized by their reniform shape, smooth surface, large hilar scar, unique raphe excrescence and layered seed coat. Following morphological and anatomical comparisons with both extant and other fossil species, the fossil seeds were assigned to T. nanlinensis, a species first reported from the Early-Middle Miocene Longchuan Basin in southwestern Yunnan. This new fossil finding suggests that the Baoshan Basin probably had forest vegetation in a warm, humid climate at some time during the latest Miocene. This is in line with previous suggestions based on other fossils, such as hominoids (Lufengpithecus sp.) and other mammals, found from the same sedimentary layer of the basin. Together with the previous record, our fossil discovery mirrors continuous presence of Toddalia in southwestern China since at least the Early-Middle Miocene. This provides insight into how the modern distribution range of the genus formed in this region and even in Asia.
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Zhang W, Chen X, Sun Y, Wang Y, Tang B, Zhang Y, Liu K, Zhao W, Su B, He Y.
Genomics Proteomics Bioinformatics
, 2025
Over 80 million people worldwide live at high altitudes (> 2500 m), where numerous studies have documented the remarkable biological adaptations of highland populations to these extreme environments. However, current resources for accessing and analyzing highlander-specific data remain limited. To address this gap, we present the HiLand Resource (HLR), a comprehensive database that integrates phenomic, genomic, and genetic association data from 29,977 highlanders across three major high-altitude regions: the Qinghai–Xizang Plateau, the Andean Plateau, and the Ethiopian Plateau. HLR offers six key functions: (1) visualization of phenotypic pattern among Qinghai– Xizang highlanders across different altitudes, as well as comparison between highlanders and lowlanders, and between sexes; (2) an interactive interface to explore genomic diversity, population structure, ancestral composition, and signatures of natural selection of high-altitude populations; (3) access to a comprehensive catalog of genome-wide variants and genes identified in highlanders; (4) a genome browser built on a high-quality Tibetan genome assembly; (5) a curated collection of genotype phenotype associations derived from genome-wide association studies (GWAS) in highland populations; and (6) an online, user-friendly tool for genotype imputation using a highland-specific reference panel. Collectively, HLR provides a novel and in54
depth resource for understanding the biological features of high-altitude human populations. It holds significant potential for advancing research on human adaptation to hypoxic environments and improving medical studies focused on highland communities. The HLR database is freely available at: https://ngdc.cncb.ac.cn/hiland/.
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He Y, Zhang X, Peng MS, Li YC, Liu K, Zhang Y, Mao L, Guo Y, Ma Y, Zhou B, Zheng W, Yue T, Liao Y, Liang SA, Chen L, Zhang W, Chen X, Tang B, Yang X, Ye K, Gao S, Lu Y, Wang Y, Wan S, Hao R, Wang X, Mao Y, Dai S, Gao Z, Yang LQ, Guo J, Li J, Liu C, Wang J, Sovannary T, Bunnath L, Kampuansai J, Inta A, Srikummool M, Kutanan W, Ho HQ, Pham KD, Singthong S, Sochampa S, Kyaing UW, Pongamornkul W, Morlaeku C, Rattanakrajangsri K; Consortium of Anthropological Research in Southeast Asia and Southwest China (CASEAC); Kong QP, Zhang YP, Su B.
Nature
, 2025
Mainland Southeast Asia (MSEA) has rich ethnic and cultural diversity with a population of nearly 300 million1,2. However, people from MSEA are underrepresented in the current human genomic databases. Here we present the SEA3K genome dataset (phase I), generated by deep short-read whole-genome sequencing of 3,023 individuals from 30 MSEA populations, and long-read whole-genome sequencing of 37 representative individuals. We identified 79.59 million small variants and 96,384 structural variants, among which 22.83 million small variants and 24,622 structural variants are unique to this dataset. We observed a high genetic heterogeneity across MSEA populations, reflected by the varied combinations of genetic components. We identified 44 genomic regions with strong signatures of Darwinian positive selection, covering 89 genes involved in varied physiological systems such as physical traits and immune response. Furthermore, we observed varied patterns of archaic Denisovan introgression in MSEA populations, supporting the proposal of at least two distinct instances of Denisovan admixture into modern humans in Asia3. We also detected genomic regions that suggest adaptive archaic introgressions in MSEA populations. The large number of novel genomic variants in MSEA populations highlight the necessity of studying regional populations that can help answer key questions related to prehistory, genetic adaptation and complex diseases.
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Guo Y, Zheng W, Yue T, Baimakangzhuo, Qi X, Liu K, Li L, He Y, Su B.
Journal of Genetics and Genomics
, 2025
Nitric oxide (NO) is a key vasodilator that regulates vascular pressure and blood flow. Tibetans have developed a “blunted” mechanism for regulating NO levels at high altitude, with GTP cyclohydrolase 1 (GCH1) identified as a key candidate gene. Here, we present comprehensive genetic and functional analyses of GCH1, which exhibits strong Darwinian positive selection in Tibetans. We show that Tibetan-enriched GCH1 variants down-regulate its expression in the blood of Tibetans. Based on this observation, we generate the heterozygous Gch1 knockout (Gch1 þ/e) mouse model to simulate its downregulation in Tibetans. We find that under prolonged hypoxia, the Gch1 þ/e mice have relatively higher blood NO and blood oxygen saturation levels compared with the wild-type (WT) controls, providing better oxygen supplies to the cardiovascular and pulmonary systems. Markedly, hypoxia-induced cardiac hypertrophy and pulmonary remodeling are significantly attenuated in the Gch1 þ/e mice compared with the WT controls, likely due to the adaptive changes in molecular regulations related to metabolism, inflammation, circadian rhythm, extracellular matrix, and oxidative stress. This study sheds light on the role of GCH1 in regulating blood NO, contributing to the physiological adaptation of the cardiovascular and pulmonary systems in Tibetans at high altitude.
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Liu Y, Luo X, Sun Y, Chen K, Hu T, You B, Xu J, Zhang F, Cheng Q, Meng X, Yan T, Li X, Qi X, He X, Guo X, Li C, Su B.
Developmental Cell
, 2025
Understanding the cellular and genetic mechanisms driving human-specific features of cortical development remains a challenge. We generated a cell-type resolved atlas of transcriptome and chromatin accessibility in the developing macaque and mouse prefrontal cortex (PFC). Comparing with published human data, our findings demonstrate that although the cortex cellular composition is overall conserved across species, progenitor cells show significant evolutionary divergence in cellular properties. Specifically, human neural progenitors exhibit extensive transcriptional rewiring in growth factor and extracellular matrix (ECM) pathways. Expression of the human-specific progenitor marker ITGA2 in the fetal mouse cortex increases the progenitor proliferation and the proportion of upper-layer neurons. These transcriptional divergences are primarily driven by altered activity in the distal regulatory elements. The chromatin regions with human-gained accessibility are enriched with human-specific sequence changes and polymorphisms linked to intelligence and neuropsychiatric disorders. Our results identify evolutionary changes in neural progenitors and putative gene regulatory mechanisms shaping primate brain evolution.