BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included....BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.展开更多
With the aim of assessing floristic diversity, stand structure and vegetation ecology, the present work was carried out in the savanna mosaic forest of the locality of Ndjole (Centre Cameroon). A total of 30 floristic...With the aim of assessing floristic diversity, stand structure and vegetation ecology, the present work was carried out in the savanna mosaic forest of the locality of Ndjole (Centre Cameroon). A total of 30 floristic plots of 40 m × 40 m (1600 m<sup>2</sup>) were delineated in the different ecosystems (forest, forest-savanna contact zone and the savanna). Within each plot, all individuals with a diameter at breast height ≥ 10 cm at 1.30 m were taken into account. ANOVA was used to compare the means of the diversity indices of the different ecosystems, and the DUNCAN test at 5% significance level (XLSTAT 2016) to separate these means. A total of 85 species belonging to 67 genera and 33 families were recorded. That is, 68 species in semi-caducifolia forest, 45 in forest-savanna contact zone and 18 in savanna. Urticaceae, Combretaceae, Apocynaceae, Myristicaceae and Euphorbiaceae are the most diverse families in the forest. On the other hand, in contact zones, the Euphorbiaceae, Fabaceae, Annonaceae and Moraceae families are the most diversified, while in the savannas, the Combretaceae, Fabaceae and Annonaceae families are the most diversified. Shannon’s diversity index values (1.7 to 2.37 bits) reflect low specific diversity;Piélou’s equitability (0.86 to 0.9) shows good distribution of individuals within species. The diametric structure of woody species shows an inverted “J” shape in all plant communities. This indicates a high regeneration potential characterized by a greater number of small trees than large trees. Mesophanerophytes and megaphanerophytes are dominant in forests and forest-savanna contact zones, and microphanerophytes in the savannas. Endozoochory is the main mode of diaspore dissemination. As regards the distribution of phytogeographical types, it shows the overall dominance of Guineo-Congolese species in all plant communities. Our study provides detailed data on forest-savanna floristic and plant life traits in the mosaic and recommends further studies on the impact of environmental parameter variations on the forest encroachment into savanna.展开更多
We establish a general mapping from one-dimensional non-Hermitian mosaic models to their non-mosaic counterparts.This mapping can give rise to mobility edges and even Lyapunov exponents in the mosaic models if critica...We establish a general mapping from one-dimensional non-Hermitian mosaic models to their non-mosaic counterparts.This mapping can give rise to mobility edges and even Lyapunov exponents in the mosaic models if critical points of localization or Lyapunov exponents of localized states in the corresponding non-mosaic models have already been analytically solved.To demonstrate the validity of this mapping,we apply it to two non-Hermitian localization models:an Aubry-Andre-like model with nonreciprocal hopping and complex quasiperiodic potentials,and the Ganeshan-Pixley-Das Sarma model with nonreciprocal hopping.We successfully obtain the mobility edges and Lyapunov exponents in their mosaic models.This general mapping may catalyze further studies on mobility edges,Lyapunov exponents,and other significant quantities pertaining to localization in non-Hermitian mosaic models.展开更多
Microscopic vision has been widely applied in precision assembly.To achieve sufficiently high resolution in measurements for precision assembly when the sizes of the parts involved exceed the field of view of the visi...Microscopic vision has been widely applied in precision assembly.To achieve sufficiently high resolution in measurements for precision assembly when the sizes of the parts involved exceed the field of view of the vision system,an image mosaic technique must be used.In this paper,a method for constructing an image mosaic with non-overlapping areas with enhanced efficiency is proposed.First,an image mosaic model for the part is created using a geometric model of the measurement system installed on a X-Y-Z precision stages with high repeatability,and a path for image acquisition is established.Second,images are captured along the same path for a specified calibration plate,and an entire image is formed based on the given model.The measurement results obtained from the specified calibration plate are utilized to identify mosaic errors and apply compensation for the part requiring measurement.Experimental results show that the maximum error is less than 4μm for a camera with pixel equivalent 2.46μm,thereby demonstrating the accuracy of the proposed method.This image mosaic technique with non-overlapping regions can simplify image acquisition and reduce the workload involved in constructing an image mosaic.展开更多
Soybean(Glycine max)is a major oil and feed crop worldwide.Soybean mosaic virus(SMV)is a globally occurring disease that severely reduces the yield and quality of soybean.Here,we characterized the role of the clock ge...Soybean(Glycine max)is a major oil and feed crop worldwide.Soybean mosaic virus(SMV)is a globally occurring disease that severely reduces the yield and quality of soybean.Here,we characterized the role of the clock gene TIMING OF CAB EXPRESSION 1b(GmTOC1b)in the resistance of soybean to SMV.Homozygous Gmtoc1b mutants exhibited increased tolerance to SMV strain SC3 due to the activation of programmed cell death triggered by a hypersensitive response.Transcriptome deep sequencing and RT-qPCR analysis suggested that GmTOC1b likely regulates the expression of target genes involved in the salicylic acid(SA)signaling pathway.GmTOC1b binds to the promoter of GmWRKY40,which encodes a protein that activates the expression of SA-mediated defense-related genes.Moreover,we revealed that the GmTOC1bH1 haplotype,which confers increased tolerance to SMV,was artificially selected in improved cultivars from the Northern and Huang-Huai regions of China.Our results therefore identify a previously unknown SMV resistance component that could be deployed in the molecular breeding of soybean to enhance SMV resistance.展开更多
Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer ...Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer cycles as the study group and 97 euploid embryo transfer cycles as the control group after propensity score matching, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yat-sen University, from March 2019 to September 2023. The biopsy cells from blastocyst were undertaken next generation sequencing (NGS). Results: No significant difference in pregnancy outcomes compared between the two groups. According to the size of aneuploid, fragment the level of mosaicism or blastocyst morphological gradings, there were no significant difference in mosaic embryo transfers. Conclusion: Mosaic embryo detected in the PGT cycle can lead to clinical pregnancy and live birth of healthy offspring, which can be considerate suitable for transfer.展开更多
BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somati...BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somatic mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG syndrome.We describe for the first time the mosaicism of a novel variant in a child with a mild KBG phenotype.CASE SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental delay.Pituitary hypoplasia and central hypothyroidism were also detected.By next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also found.The patient started levothyroxine and growth hormone treatment.CONCLUSION The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.展开更多
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases.However,except for cancer-related variants,there is no collection of postzygotic mosaic...Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases.However,except for cancer-related variants,there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals.Here,we present MosaicBase,a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals.Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications.MosaicBase supports the query of variants with Online Mendelian Inheritance in Man(OMIM)entries,genomic coordinates,gene symbols,or Entrez IDs.We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region.By analyzing the variants collected in MosaicBase,we find that mosaic variants that directly contribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes,in terms of their genomic distribution,mutation signatures,and fraction of mutant cells.MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population.MosaicBase is publicly available at http://mosaicbase.com/or http://49.4.21.8:8000.展开更多
Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insuffic...Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.展开更多
文摘BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.
文摘With the aim of assessing floristic diversity, stand structure and vegetation ecology, the present work was carried out in the savanna mosaic forest of the locality of Ndjole (Centre Cameroon). A total of 30 floristic plots of 40 m × 40 m (1600 m<sup>2</sup>) were delineated in the different ecosystems (forest, forest-savanna contact zone and the savanna). Within each plot, all individuals with a diameter at breast height ≥ 10 cm at 1.30 m were taken into account. ANOVA was used to compare the means of the diversity indices of the different ecosystems, and the DUNCAN test at 5% significance level (XLSTAT 2016) to separate these means. A total of 85 species belonging to 67 genera and 33 families were recorded. That is, 68 species in semi-caducifolia forest, 45 in forest-savanna contact zone and 18 in savanna. Urticaceae, Combretaceae, Apocynaceae, Myristicaceae and Euphorbiaceae are the most diverse families in the forest. On the other hand, in contact zones, the Euphorbiaceae, Fabaceae, Annonaceae and Moraceae families are the most diversified, while in the savannas, the Combretaceae, Fabaceae and Annonaceae families are the most diversified. Shannon’s diversity index values (1.7 to 2.37 bits) reflect low specific diversity;Piélou’s equitability (0.86 to 0.9) shows good distribution of individuals within species. The diametric structure of woody species shows an inverted “J” shape in all plant communities. This indicates a high regeneration potential characterized by a greater number of small trees than large trees. Mesophanerophytes and megaphanerophytes are dominant in forests and forest-savanna contact zones, and microphanerophytes in the savannas. Endozoochory is the main mode of diaspore dissemination. As regards the distribution of phytogeographical types, it shows the overall dominance of Guineo-Congolese species in all plant communities. Our study provides detailed data on forest-savanna floristic and plant life traits in the mosaic and recommends further studies on the impact of environmental parameter variations on the forest encroachment into savanna.
基金the National Natural Science Foundation of China(Grant No.12204406)the National Key Research and Development Program of China(Grant No.2022YFA1405304)the Guangdong Provincial Key Laboratory(Grant No.2020B1212060066)。
文摘We establish a general mapping from one-dimensional non-Hermitian mosaic models to their non-mosaic counterparts.This mapping can give rise to mobility edges and even Lyapunov exponents in the mosaic models if critical points of localization or Lyapunov exponents of localized states in the corresponding non-mosaic models have already been analytically solved.To demonstrate the validity of this mapping,we apply it to two non-Hermitian localization models:an Aubry-Andre-like model with nonreciprocal hopping and complex quasiperiodic potentials,and the Ganeshan-Pixley-Das Sarma model with nonreciprocal hopping.We successfully obtain the mobility edges and Lyapunov exponents in their mosaic models.This general mapping may catalyze further studies on mobility edges,Lyapunov exponents,and other significant quantities pertaining to localization in non-Hermitian mosaic models.
基金supported by the Liaoning Revitalization Talents Program(Grant No.XLYC2002020)the Major Project of Basic Scientific Research of Chinese Ministry(Grant No.JCYK2016205A003).
文摘Microscopic vision has been widely applied in precision assembly.To achieve sufficiently high resolution in measurements for precision assembly when the sizes of the parts involved exceed the field of view of the vision system,an image mosaic technique must be used.In this paper,a method for constructing an image mosaic with non-overlapping areas with enhanced efficiency is proposed.First,an image mosaic model for the part is created using a geometric model of the measurement system installed on a X-Y-Z precision stages with high repeatability,and a path for image acquisition is established.Second,images are captured along the same path for a specified calibration plate,and an entire image is formed based on the given model.The measurement results obtained from the specified calibration plate are utilized to identify mosaic errors and apply compensation for the part requiring measurement.Experimental results show that the maximum error is less than 4μm for a camera with pixel equivalent 2.46μm,thereby demonstrating the accuracy of the proposed method.This image mosaic technique with non-overlapping regions can simplify image acquisition and reduce the workload involved in constructing an image mosaic.
基金the National Natural Science Foundation of China(32001502,32001507)the China Postdoctoral Science Foundation(2020M682655)+3 种基金the top ten critical priorities of Agricultural Science and Technology Innovations for the 14th Five-Year Plan of Guangdong Province(2022SDZG05)Science and Technology Innovation Team of Soybean Modern Seed Industry In Hebei Province(21326313D-4)Innovation Research Project of Coarse Cereals Specialty in Guizhou Province[2019[4012]]the Regional First-class Discipline of Ecology in Guizhou Province(XKTJ[2020]22).
文摘Soybean(Glycine max)is a major oil and feed crop worldwide.Soybean mosaic virus(SMV)is a globally occurring disease that severely reduces the yield and quality of soybean.Here,we characterized the role of the clock gene TIMING OF CAB EXPRESSION 1b(GmTOC1b)in the resistance of soybean to SMV.Homozygous Gmtoc1b mutants exhibited increased tolerance to SMV strain SC3 due to the activation of programmed cell death triggered by a hypersensitive response.Transcriptome deep sequencing and RT-qPCR analysis suggested that GmTOC1b likely regulates the expression of target genes involved in the salicylic acid(SA)signaling pathway.GmTOC1b binds to the promoter of GmWRKY40,which encodes a protein that activates the expression of SA-mediated defense-related genes.Moreover,we revealed that the GmTOC1bH1 haplotype,which confers increased tolerance to SMV,was artificially selected in improved cultivars from the Northern and Huang-Huai regions of China.Our results therefore identify a previously unknown SMV resistance component that could be deployed in the molecular breeding of soybean to enhance SMV resistance.
文摘Purpose: We aimed to analyze the pregnancy outcomes and perinatal follow-up of mosaic embryo transfer in the preimplantation genetic testing (PGT) cycles. Method: We retrospectively selected 27 mosaic embryo transfer cycles as the study group and 97 euploid embryo transfer cycles as the control group after propensity score matching, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yat-sen University, from March 2019 to September 2023. The biopsy cells from blastocyst were undertaken next generation sequencing (NGS). Results: No significant difference in pregnancy outcomes compared between the two groups. According to the size of aneuploid, fragment the level of mosaicism or blastocyst morphological gradings, there were no significant difference in mosaic embryo transfers. Conclusion: Mosaic embryo detected in the PGT cycle can lead to clinical pregnancy and live birth of healthy offspring, which can be considerate suitable for transfer.
文摘BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somatic mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG syndrome.We describe for the first time the mosaicism of a novel variant in a child with a mild KBG phenotype.CASE SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental delay.Pituitary hypoplasia and central hypothyroidism were also detected.By next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also found.The patient started levothyroxine and growth hormone treatment.CONCLUSION The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.
基金supported by grants from the National Natural Science Foundation of China(Grant No.31530092)the Ministry of Science and Technology of China(Grant No.2015AA020108)awarded to LW
文摘Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases.However,except for cancer-related variants,there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals.Here,we present MosaicBase,a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals.Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications.MosaicBase supports the query of variants with Online Mendelian Inheritance in Man(OMIM)entries,genomic coordinates,gene symbols,or Entrez IDs.We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region.By analyzing the variants collected in MosaicBase,we find that mosaic variants that directly contribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes,in terms of their genomic distribution,mutation signatures,and fraction of mutant cells.MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population.MosaicBase is publicly available at http://mosaicbase.com/or http://49.4.21.8:8000.
基金the National Key R&D Program of China(Grant No.2018YFC1003100).
文摘Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.
