Tibeto-Burman(TB)people have endeavored to adapt to the hypoxic,cold,and high-UV high-altitude environments in the Tibetan Plateau and complex disease exposures in lowland rainforests since the late Paleolithic period...Tibeto-Burman(TB)people have endeavored to adapt to the hypoxic,cold,and high-UV high-altitude environments in the Tibetan Plateau and complex disease exposures in lowland rainforests since the late Paleolithic period.However,the full landscape of genetic history and biological adaptation of geographically diverse TB-speaking people,as well as their interaction mechanism,remain unknown.Here,we generate a whole-genome meta-database of 500 individuals from 39 TB-speaking populations and present a comprehensive landscape of genetic diversity,admixture history,and differentiated adaptative features of geographically different TB-speaking people.We identify genetic differentiation related to geography and language among TB-speaking people,consistent with their differentiated admixture process with incoming or indigenous ancestral source populations.A robust genetic connection between the Tibetan-Yi corridor and the ancient Yellow River people supports their Northern China origin hypothesis.We finally report substructure-related differentiated biological adaptative signatures between highland Tibetans and Loloish speakers.Adaptative signatures associated with the physical pigmentation(EDAR and SLC24A5)and metabolism(ALDH9A1)are identified in Loloish people,which differed from the high-altitude adaptative genetic architecture in Tibetan.TB-related genomic resources provide new insights into the genetic basis of biological adaptation and better reference for the anthropologically informed sampling design in biomedical and genomic cohort research.展开更多
Genomic sources from China are underrepresented in the population-specific reference database.We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups...Genomic sources from China are underrepresented in the population-specific reference database.We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups(1,081 Sinitic,56 Mongolic,40 Turkic,and 30Tibeto-Burman people)living in North China included in the 10K Chinese People Genomic Diversity Project(10K_CPGDP)to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China.We observed a population split between Northwest Chinese minorities(NWCMs)and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.The observed population substructures among ethnically/linguistically diverse NWCMs suggested that differentiated admixture events contributed to the differences in their genomic and phenotypic diversity.We estimated that the Dongxiang,Tibetan,and Yugur people inherited more than 10%of the Western Eurasian ancestry,which is much greater than that of the Salar and Tu people(<7%),while Han neighbors showed less West Eurasian ancestry(~1%-3%).Male-biased admixture introduced Western Eurasian ancestry in the Dongxiang,Tibetan,and Yugur populations.We found that the eastern-western admixture in NWCMs occurred~800-1,100 years ago,coinciding with intensive economic and cultural exchanges during the Tang and Song dynasties.Additionally,we identified the signatures of natural selection associated with cardiovascular system diseases or lipid metabolism and developmental/neurogenetic disorders.Moreover,the EPAS1 gene showed relatively high population branch statistic values in NWCMs.The well-fitted demographical models presented the vast landscape of complex admixture processes of the Silk Road people,and the newly reported functionally important variations suggested the importance of including ethnolinguistically diverse populations in Chinese genetic studies for uncovering the genetic basis of complex traits/diseases.展开更多
TotheEditor:Coronavirus disease2019(COVID-19)has rapidly become a great global infection and broughtabout a wide range of health consequences,including a high number of deaths due to continuous spread.
Myelomeningocele(MMC)is a protrusion of spinal cord contents and meninges through a vertebral defect.Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice.In our case,a 3‑month‑old female ...Myelomeningocele(MMC)is a protrusion of spinal cord contents and meninges through a vertebral defect.Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice.In our case,a 3‑month‑old female was born with a lumbosacral cyst,the size of which had been increasing gradually over age.There was no neurological,orthopedic,or urologic dysfunction.On the day of her death,she received a repetitive and rapid lumbosacral cyst puncture drainage procedure,performed by an illegal medical practitioner.Postmortem autopsy findings confirmed a diagnosis of MMC and the cause of death to be cerebellar tonsillar herniation.This is a pathetic case of preventable infant death.This report suggests that the possibility of MMC should be considered in infants born with a lumbosacral cyst,and aspiration is inadvisable.Besides,forensic autopsy has a valuable role in determining the exact cause of death,identifying,or excluding iatrogenic factors that may be relevant to death following a medical procedure.A final point is that prevention programs should be developed,especially by the health care sectors to reduce such tragedy.展开更多
基金the National Natural Science Foundation of China(82202078)the Center for Archaeological Science of Sichuan University(23SASA01).
文摘Tibeto-Burman(TB)people have endeavored to adapt to the hypoxic,cold,and high-UV high-altitude environments in the Tibetan Plateau and complex disease exposures in lowland rainforests since the late Paleolithic period.However,the full landscape of genetic history and biological adaptation of geographically diverse TB-speaking people,as well as their interaction mechanism,remain unknown.Here,we generate a whole-genome meta-database of 500 individuals from 39 TB-speaking populations and present a comprehensive landscape of genetic diversity,admixture history,and differentiated adaptative features of geographically different TB-speaking people.We identify genetic differentiation related to geography and language among TB-speaking people,consistent with their differentiated admixture process with incoming or indigenous ancestral source populations.A robust genetic connection between the Tibetan-Yi corridor and the ancient Yellow River people supports their Northern China origin hypothesis.We finally report substructure-related differentiated biological adaptative signatures between highland Tibetans and Loloish speakers.Adaptative signatures associated with the physical pigmentation(EDAR and SLC24A5)and metabolism(ALDH9A1)are identified in Loloish people,which differed from the high-altitude adaptative genetic architecture in Tibetan.TB-related genomic resources provide new insights into the genetic basis of biological adaptation and better reference for the anthropologically informed sampling design in biomedical and genomic cohort research.
基金supported by the National Natural Science Foundation of China(82402203,82202078)the Major Project of the National Social Science Foundation of China(23&ZD203)+3 种基金the Open Project of the Key Laboratory of Forensic Genetics of the Ministry of Public Security(2022FGKFKT05,2024FGKFKT02)the Center for Archaeological Science of Sichuan University(23SASA01)the 1·3·5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(ZYJC20002)the Sichuan Science and Technology Program(2024NSFSC1518)。
文摘Genomic sources from China are underrepresented in the population-specific reference database.We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups(1,081 Sinitic,56 Mongolic,40 Turkic,and 30Tibeto-Burman people)living in North China included in the 10K Chinese People Genomic Diversity Project(10K_CPGDP)to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China.We observed a population split between Northwest Chinese minorities(NWCMs)and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.The observed population substructures among ethnically/linguistically diverse NWCMs suggested that differentiated admixture events contributed to the differences in their genomic and phenotypic diversity.We estimated that the Dongxiang,Tibetan,and Yugur people inherited more than 10%of the Western Eurasian ancestry,which is much greater than that of the Salar and Tu people(<7%),while Han neighbors showed less West Eurasian ancestry(~1%-3%).Male-biased admixture introduced Western Eurasian ancestry in the Dongxiang,Tibetan,and Yugur populations.We found that the eastern-western admixture in NWCMs occurred~800-1,100 years ago,coinciding with intensive economic and cultural exchanges during the Tang and Song dynasties.Additionally,we identified the signatures of natural selection associated with cardiovascular system diseases or lipid metabolism and developmental/neurogenetic disorders.Moreover,the EPAS1 gene showed relatively high population branch statistic values in NWCMs.The well-fitted demographical models presented the vast landscape of complex admixture processes of the Silk Road people,and the newly reported functionally important variations suggested the importance of including ethnolinguistically diverse populations in Chinese genetic studies for uncovering the genetic basis of complex traits/diseases.
基金This study was supported by a grant from the Opening Project of Key Laboratory of Forensic Pathology,Ministry of Public Security(No.GAFYBL201802).
文摘TotheEditor:Coronavirus disease2019(COVID-19)has rapidly become a great global infection and broughtabout a wide range of health consequences,including a high number of deaths due to continuous spread.
文摘Myelomeningocele(MMC)is a protrusion of spinal cord contents and meninges through a vertebral defect.Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice.In our case,a 3‑month‑old female was born with a lumbosacral cyst,the size of which had been increasing gradually over age.There was no neurological,orthopedic,or urologic dysfunction.On the day of her death,she received a repetitive and rapid lumbosacral cyst puncture drainage procedure,performed by an illegal medical practitioner.Postmortem autopsy findings confirmed a diagnosis of MMC and the cause of death to be cerebellar tonsillar herniation.This is a pathetic case of preventable infant death.This report suggests that the possibility of MMC should be considered in infants born with a lumbosacral cyst,and aspiration is inadvisable.Besides,forensic autopsy has a valuable role in determining the exact cause of death,identifying,or excluding iatrogenic factors that may be relevant to death following a medical procedure.A final point is that prevention programs should be developed,especially by the health care sectors to reduce such tragedy.
