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中国博后一作Science论文:揭开让野马变成人类“牛马”的关键基因突变
生物世界· 2026-02-16 04:04
撰文丨王聪 编辑丨王多鱼 排版丨水成文 自 20 世纪初发明以来, 汽车 迅速占据了人类交通领域。而在此之前的数千年时间里,人类的快速移动和 繁重任务都依靠 马匹 来完成。 马匹 彻底改变了人类历史。它的速度,使人类能快速跨越广袤的距离;它 的力量,开启了战争艺术的新纪元,驾驭战车和骑兵的崛起,开创了人类新纪元。 在早期这种关系中,人类在塑造马匹成为如今这种快速、强壮且相对温顺的动物方面发挥了作用。 近年来,古基因组测序技术极大地加深了我们对马匹历史的理解,并确定顿河与伏尔加河流域草原为其驯 化的摇篮,时间可追溯至公元前 3 千纪中叶。然而, 将野马转变为人类宝贵盟友的遗传基础,却长期未解 。 2025 年 8 月, 图卢兹人类生物与基因组学中心 Ludovic Orlando 、 中国农业科学院北京畜牧兽医研究所 蒋琳 作为共同通讯作者 , 刘雪雪 、 贾垚甄 为论文共同第一作者,在国际顶尖学术期刊 Science 发表了 题为: Selection at the GSDMC locus in horses and its implications for human mobility 的研究论文。 该研究 ...
全球首个!千万级免疫细胞图谱成功绘制,有望提供未来治疗方案
Huan Qiu Wang Zi Xun· 2026-02-08 13:30
来源:科技日报 ◎ 科技日报记者 罗云鹏 中国科学院深圳先进技术研究院研究员李汉杰评价道:"这种'全景式'资源在规模和分辨率上达到国际 领先水平。更重要的是,它在全球免疫组学图谱中,为东亚人群提供了系统而具有高分辨率的基础资 源,为疾病易感性、免疫衰老与群体差异研究奠定了关键基线。" CIMA免疫细胞亚型。图片由受访单位提供 如今,这层"玻璃"被擦亮了。深圳华大生命科学研究院牵头建设的基因组多维解析技术全国重点实验室 联合上海交通大学医学院附属瑞金医院、山西医科大学等多家机构的研究团队,完成了一项重大突破: 通过对中国自然人群队列中超过1000万个外周血免疫细胞进行系统性多组学深度解析,绘制出高分辨率 人群免疫多组学图谱(CIMA)。这也是全球首个千万级免疫细胞图谱。相关研究成果前不久发表在 《科学》上。 研究团队为每种细胞建立了详细的"身份证",记录了它们的分布及基因表达特征,并且结合志愿者的生 理数据,探索出年龄和性别等因素与特定免疫细胞特征的关联性。 研究团队整合了154种分子和疾病性状的数据,在68种免疫细胞中发现了1196个显著的遗传关联。其 中,73.2%的关联仅存在于特定细胞类型中。这意味着,研 ...
新数据结构可压缩整合上亿基因组
Xin Lang Cai Jing· 2026-01-13 23:59
Core Viewpoint - The article discusses a new "compressed pan-genome" data structure developed by a team from the University of California, San Diego, which addresses the challenges of storing, analyzing, and understanding vast amounts of genomic data as genome sequencing enters the "billion-level era" [1]. Group 1 - The new data structure can integrate and compress millions to billions of genomes into a unified framework [1]. - This innovation opens new possibilities for large-scale genomic research [1].
长臂猿为何“长臂”?中国研究团队破解百年难题
Yang Shi Xin Wen Ke Hu Duan· 2025-11-10 02:03
Core Insights - The research led by the Kunming Institute of Zoology, Chinese Academy of Sciences, provides new scientific insights into the evolution, population dynamics, and genetic basis of the gibbon family, aiding global conservation efforts [1][3] Group 1: Research Findings - The study constructed the most comprehensive gibbon genome dataset to date, covering 18 extant gibbon species and successfully obtaining mitochondrial genomes from three ancient samples, including the extinct "Gentle Gibbon" [1] - The research revealed the evolutionary relationships among the four genera of gibbons: Hylobates, Nomascus, Symphalangus, and Bunopithecus, addressing a century-old classification issue [1][3] - The study confirmed the taxonomic status of the Hoolock gibbon as an independent species and reclassified the "Gentle Gibbon" under the Nomascus genus, providing important insights into historical species diversity and geographical distribution [1][3] Group 2: Population Dynamics - The research reconstructed the population dynamics of gibbons over the past several hundred thousand years, identifying a significant population bottleneck during the Late Pleistocene (approximately 100,000 to 200,000 years ago) followed by a synchronous population recovery around 70,000 years ago [3] - This population dynamic aligns with global climate changes and sea-level fluctuations, indicating that historical climate change was a key driver of gibbon population fluctuations [3] Group 3: Genetic Mechanisms - The research identified a specific deletion in the regulatory region of the Sonic Hedgehog (SHH) gene, which is crucial for limb development in vertebrates, through comparative genomics analysis [3][4] - Functional validation using transgenic mouse models showed that mice with the gibbon-specific gene deletion exhibited significant relative growth in limb bones, suggesting that this structural variation played a critical role in the evolutionary elongation of gibbon limbs [4]
百亿参数人类基因组通用基础模型发布
Xin Hua Wang· 2025-10-23 11:43
Core Insights - The "Genos" universal foundational model for the human genome, developed by BGI Life Sciences Institute and ZhiJiang Lab, was officially launched at the 20th International Genomics Conference in Hangzhou, Zhejiang [1][2] - The model integrates data from 636 high-quality human genomes globally, aiming to reduce data bias and better represent human genetic diversity [1] - Genos can predict RNA expression profiles in seconds based solely on DNA sequences, significantly enhancing the speed of bioinformatics analysis [2] Research and Development - The foundational model's related paper was published in the international journal "GigaScience," marking a significant advancement in genomic research [1] - Existing models in genomics typically rely on one or two reference genomes, limiting their ability to capture genetic diversity [1] Clinical Applications - In clinical applications, Genos achieved a 92% accuracy rate in interpreting pathogenic mutations, which can be further improved to 98.3% when combined with ZhiJiang Lab's 021 scientific foundational model [2] - The model is positioned as an efficient tool for clinical diagnostics, enhancing the accuracy of disease diagnosis [2] Open Source Initiative - To promote global research collaboration, Genos will be fully open-sourced, offering two versions with 12 billion and 100 billion parameters to cater to different application scenarios [2] - The model's weights, architecture details, and complete training processes have been publicly released [2]
华中农业大学发表最新Cell论文
生物世界· 2025-09-03 00:15
Core Insights - The article discusses the discovery of a new gene, SCREP, which originated through a multi-step process and significantly inhibits the synthesis of the key aromatic compound, eugenol, in roses [3][5][6] - This research provides new perspectives on the mechanisms of gene origin in plants and opens new avenues for synthetic biology in designing new genes and improving biological traits [3][9] Gene Origin Mechanism - The study reveals that the SCREP gene originated from a non-coding DNA sequence approximately 63 million years ago, evolving into a complete protein-coding gene framework over time [5][6] - The insertion of a miniature inverted-repeat transposable element (MITE) into the promoter region of SCREP enhanced its expression level, explaining the differences in floral scent among various rose species [5][6] Functional Role of SCREP - The SCREP gene acts as a "scent switch" in the rose family, with its presence leading to a significant reduction in eugenol content in strawberries and petunias when transferred [6][9] - The absence of the SCREP gene or the lack of MITE insertion in certain rose varieties correlates with a stronger release of eugenol, indicating that SCREP expression levels are crucial in shaping the diversity of floral scents in the rose genus [6][9] Implications for Synthetic Biology - The findings offer theoretical foundations for the targeted regulation of floral scent traits in roses and have significant potential applications in synthetic biology [9][11] - The research suggests a shift from traditional methods of genetic modification to creating new genes from scratch, allowing for precise improvements in plant traits [9][11]
新发现基因关联脑进化和语言功能
Ke Ji Ri Bao· 2025-08-08 01:12
Group 1 - The research team from the University of California, Davis, has discovered two genes related to human brain characteristics and established a systematic research framework to explore more related genes [1][2] - The study utilized the complete human genome map created by the "Telomere to Telomere" (T2T) consortium, identifying approximately 250 candidate gene families that are actively expressed in the brain, verified across all human individuals, and highly conserved [2] - The specific functions of the two identified genes, GPR89B and FRMPD2B, were confirmed through zebrafish model experiments, with GPR89B regulating brain size and FRMPD2B involved in synaptic signaling [2] Group 2 - The findings fill a gap in the research of genomic repeat sequences and provide critical targets for the precise screening of gene mutations associated with language deficits and autism [2] - The constructed dataset from this research is expected to become an important resource for the scientific community, aiding in the understanding of brain evolution and neurodevelopmental diseases [2] - The role of these genes in the formation of unique human brain characteristics offers key insights for future treatments of related diseases through the in-depth analysis of this "genomic dark matter" [2]
浙江大学/华大合作发表最新Cell论文
生物世界· 2025-06-16 23:37
Core Viewpoint - The article discusses a significant global research study that reveals the genetic basis of adaptive radiation and social evolution in ants, highlighting their complex social structures and evolutionary history [2][12]. Group 1: Research Findings - The study, involving a collaboration of multiple institutions, analyzed the whole genome data of 163 different ant species, reconstructing the phylogenetic tree of the Formicidae family, tracing their common ancestor back to approximately 157 million years ago during the late Jurassic period [2][4]. - Significant gene family expansions related to olfactory perception were found in the genome of the common ancestor of ants, indicating the presence of key molecular mechanisms for social communication [4][8]. - The research identified a high rate of chromosomal rearrangements in ants, particularly in species with rich diversity, showing a significant positive correlation between chromosomal rearrangement rates and species diversity [6][7]. Group 2: Evolutionary Mechanisms - The evolution of ant social traits is regulated by a set of highly conserved signaling pathways, including juvenile hormone, MAPK, and insulin pathways, which play crucial roles in determining individual identities such as the differentiation between queens and workers [8][9]. - Different ant species exhibit variations in the mechanisms of these signaling pathways, reflecting adaptive evolution under natural selection, particularly in social complexity [9][12]. - The study emphasizes that the evolution of ant social structures is influenced by the interaction between various phenotypic traits and life history characteristics, with key factors being colony size and the degree of differentiation between queens and workers [9][12]. Group 3: Implications and Future Research - The research provides insights into the genetic mechanisms underlying the evolution of social traits in ants, establishing functional links between candidate genes and social characteristics [12][13]. - The findings open avenues for further exploration of intriguing questions regarding ant biology, such as the longevity of queens and the rapid evolution of ant karyotypes [13][16]. - The study highlights the correlation between genomic evolution and the radiation of ant species, suggesting a co-evolution of gene networks and social traits that drive the diversity of ant species and their social behaviors [13][14].
【中国新闻网】中国团队领衔首次系统揭示东南亚大陆人群遗传结构与演化史
Zhong Guo Xin Wen Wang· 2025-05-16 02:11
Core Findings - The "Southeast Asian Population Genomics Project" (SEA3K) has revealed the complex genetic structure and evolutionary history of Southeast Asian populations, filling a significant gap in global genomics [1][2] - The project involved collaboration among 34 research teams from multiple Southeast Asian countries, resulting in the collection of samples from over 30 locations and the completion of 3023 whole genome sequences [1][2] Genetic Structure and Adaptation - The analysis of SEA3K data has shown that the genetic structure of most Southeast Asian populations aligns more closely with their geographical distribution rather than linguistic classification, indicating that geographical isolation has played a key role in population differentiation [2] - Key genes related to adaptation to tropical rainforest environments have been identified, highlighting unique evolutionary strategies of Southeast Asian populations in response to their environment [2] Historical Insights - The research uncovered evidence of multiple gene flow events between Southeast Asian populations and the extinct Denisovans, suggesting that Denisovans may have been widely distributed in East Asia during the Paleolithic era and interacted with modern humans in Southeast Asia [2] Future Initiatives - The Chinese Academy of Sciences has officially launched the second phase of the Southeast Asian Human Genome Project (SEA10K) in collaboration with international partners [4]