With the rapid development of next generation deep sequencing technologies,sequencing cDNA reverse-transcribed from RNA molecules(RNA-Seq)has become a key approach in studying gene expression and transcriptomes.Becaus...With the rapid development of next generation deep sequencing technologies,sequencing cDNA reverse-transcribed from RNA molecules(RNA-Seq)has become a key approach in studying gene expression and transcriptomes.Because RNA-Seq does not rely on annotation of known genes,it provides the opportunity of discovering transcripts that have not been annotated in current databases.Studying the distribution of RNASeq signals and a systematic view on the potential new transcripts revealed from the signals is an important step toward the understanding of transcriptomes.展开更多
1.INTRODUCTION Hematological malignancies with NUP98 rearrangement(NUP98r)were included as recurrent genetic abnormali-ties due to their distinctive clinicopathologic characteristics in the 2022 European LeukmiaNet(EL...1.INTRODUCTION Hematological malignancies with NUP98 rearrangement(NUP98r)were included as recurrent genetic abnormali-ties due to their distinctive clinicopathologic characteristics in the 2022 European LeukmiaNet(ELN)classification,the 2022 World Health Organization(WHO)classification,and the International Consensus Classification.展开更多
Despite the identification of key genes such as Sry integral to embryonic gonadal development, the genomic classification and identification of chromosomal activation of this process is still poorly understood. To bet...Despite the identification of key genes such as Sry integral to embryonic gonadal development, the genomic classification and identification of chromosomal activation of this process is still poorly understood. To better understand the genetic regulation of gonadal development, we performed Serial Analysis of Gene Expression （SAGE） to profile the genes and novel transcripts, and an average of 152,000 tags from male embryonic gonads at E10.5 （embryonic day 10.5）, E11.5, E12.5, E13.5, E15.5 and E17.5 were analyzed. A total of 275,583 non-singleton tags that do not map to any annotated sequence were identified in the six gonad libraries, and 47,255 tags were mapped to 24,975 annotated sequences, among which 987 sequences were uncharacterized. Utilizing an unsupervised pattern identification technique, we established molecular staging of male gonadal development. Rather than providing a static descriptive analysis, we developed algorithms to cluster the SAGE data and assign SAGE tags to a corresponding chromosomal position; these data are displayed in chromosome graphic format. A prominent increase in global genomic activity from E10.5 to E17.5 was observed. Important chromosomal regions related to the developmental processes were identified and validated based on established mouse models with developmental disorders. These regions may represent markers for early diagnosis for disorders of male gonad development as well as potential treatment targets.展开更多
基金This work was supported in part by the National Natural Science Foundation of China(Grant Nos.61021063 and 60928007).
文摘With the rapid development of next generation deep sequencing technologies,sequencing cDNA reverse-transcribed from RNA molecules(RNA-Seq)has become a key approach in studying gene expression and transcriptomes.Because RNA-Seq does not rely on annotation of known genes,it provides the opportunity of discovering transcripts that have not been annotated in current databases.Studying the distribution of RNASeq signals and a systematic view on the potential new transcripts revealed from the signals is an important step toward the understanding of transcriptomes.
基金supported by grant from the National Key R&D Program of China(2019YFA0111000,2022YFC2502700)the National Natural Science Foundation of China(82170158,82470166,82200149,82100175,82200149,82100170)+1 种基金the priority academic program development of Jiangsu Higher Education Institution,the Natural Science Foundation of Jiangsu Province(BK20231195,BK20210087)the Open Project of Jiangsu Biobank of Clinical Resources(SBK202003001,SBK202003003).
文摘1.INTRODUCTION Hematological malignancies with NUP98 rearrangement(NUP98r)were included as recurrent genetic abnormali-ties due to their distinctive clinicopathologic characteristics in the 2022 European LeukmiaNet(ELN)classification,the 2022 World Health Organization(WHO)classification,and the International Consensus Classification.
基金supported in part by the Intramural Re-search Program of the National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development, USAgrants from the Congres-sionally Directed Biomedical Research in Prostate Cancer of the Department of Defense, the Research Enhancement Award in Prostate Cancer, and a Merit Award of the De-partment of Veterans Affairs, USA.
文摘Despite the identification of key genes such as Sry integral to embryonic gonadal development, the genomic classification and identification of chromosomal activation of this process is still poorly understood. To better understand the genetic regulation of gonadal development, we performed Serial Analysis of Gene Expression （SAGE） to profile the genes and novel transcripts, and an average of 152,000 tags from male embryonic gonads at E10.5 （embryonic day 10.5）, E11.5, E12.5, E13.5, E15.5 and E17.5 were analyzed. A total of 275,583 non-singleton tags that do not map to any annotated sequence were identified in the six gonad libraries, and 47,255 tags were mapped to 24,975 annotated sequences, among which 987 sequences were uncharacterized. Utilizing an unsupervised pattern identification technique, we established molecular staging of male gonadal development. Rather than providing a static descriptive analysis, we developed algorithms to cluster the SAGE data and assign SAGE tags to a corresponding chromosomal position; these data are displayed in chromosome graphic format. A prominent increase in global genomic activity from E10.5 to E17.5 was observed. Important chromosomal regions related to the developmental processes were identified and validated based on established mouse models with developmental disorders. These regions may represent markers for early diagnosis for disorders of male gonad development as well as potential treatment targets.
