Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an es...Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an essential reference for comparative analysis.However,their application in pathology represents a challenge because of deficiency or contamination of maternal-origin tissues.This study aimed to develop a novel STR genotyping method for identifying CHM genotypes without a maternal component.Methods Samples with the pathologic description of molar pregnancy were collected.Routine hematoxylin–eosin(HE)staining and p57 immunohistochemistry staining were conducted in accordance with standard guidelines.A novel 26-plex system was explored to classify CHM and diploid pregnancies.The system combined 22 STRs on chromosomes 21/18/13/X,3 sex loci,and 1 quality control marker(TAF9L),enabling molecular diagnosis in the absence of maternal tissue.At last,traditional DNA typing based on villi and decidua(maternal component)of each case was used for result consistency analysis.Results CHM and nonmolar abortus could not be distinguished by the basic HE staining with no fetal evidence or other prominent features.DNA typing was successfully processed for all cases according to the novel 26-plex and traditional system.CHM(46XX)diagnosis required single A-STR/X-STR peaks and absent Y-chromosome markers,excluding chromosomal abnormalities via TAF9L analysis.When the villous tissue analysis revealed single peaks at X-STR/SRY loci,a 1:1 amelogenin ratio,and a 2:1 TAF9L peak ratio,these results overlapped with those of 46XY hydropic abortus or CHM.Notably,p57 immunohistochemical staining resolved the ambiguity.Consistency with traditional DNA genotyping confirmed system accuracy.This multiplex assay enhanced reliability in mole diagnosis,supporting clinical differentiation and genetic counseling.Conclusion This study presents a rapid and cost-effective assay for the genotypic identification of CHM without the need for a maternal component.The method combined the characteristics of STR loci distributed across different chromosomes and developed the clinic application of forensic biomarkers.展开更多
Deregulated c-Myc expression is a hallmark of many human cancers. We have recently identified a role of mammalian homolog of yeast SPT-ADA-GCN5-acetyltransferas(SAGA) complex component, SAGAassociated factor 29(SGF29)...Deregulated c-Myc expression is a hallmark of many human cancers. We have recently identified a role of mammalian homolog of yeast SPT-ADA-GCN5-acetyltransferas(SAGA) complex component, SAGAassociated factor 29(SGF29), in regulating the c-Myc overexpression. Here, we discuss the molecular nature of SFG29 in SPT3-TAF9-GCN5-acetyltransferase complex, a counterpart of yeast SAGA complex, and the mechanism through which the elevated SGF29 expression contribute to oncogenic potential of c-Myc in hepatocellularcarcinoma(HCC). We propose that the upstream regulation of SGF29 elicited by sexdetermining region Y(Sry) is also augmented in HCC. We hypothesize that c-Myc elevation driven by the deregulated Sry and SGF29 pathway is implicated in the male specific acquisition of human HCCs.展开更多
基金supported by the Key Research and Development Program of Shaanxi(No.S2024-YF-YB-SF-1359).
文摘Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an essential reference for comparative analysis.However,their application in pathology represents a challenge because of deficiency or contamination of maternal-origin tissues.This study aimed to develop a novel STR genotyping method for identifying CHM genotypes without a maternal component.Methods Samples with the pathologic description of molar pregnancy were collected.Routine hematoxylin–eosin(HE)staining and p57 immunohistochemistry staining were conducted in accordance with standard guidelines.A novel 26-plex system was explored to classify CHM and diploid pregnancies.The system combined 22 STRs on chromosomes 21/18/13/X,3 sex loci,and 1 quality control marker(TAF9L),enabling molecular diagnosis in the absence of maternal tissue.At last,traditional DNA typing based on villi and decidua(maternal component)of each case was used for result consistency analysis.Results CHM and nonmolar abortus could not be distinguished by the basic HE staining with no fetal evidence or other prominent features.DNA typing was successfully processed for all cases according to the novel 26-plex and traditional system.CHM(46XX)diagnosis required single A-STR/X-STR peaks and absent Y-chromosome markers,excluding chromosomal abnormalities via TAF9L analysis.When the villous tissue analysis revealed single peaks at X-STR/SRY loci,a 1:1 amelogenin ratio,and a 2:1 TAF9L peak ratio,these results overlapped with those of 46XY hydropic abortus or CHM.Notably,p57 immunohistochemical staining resolved the ambiguity.Consistency with traditional DNA genotyping confirmed system accuracy.This multiplex assay enhanced reliability in mole diagnosis,supporting clinical differentiation and genetic counseling.Conclusion This study presents a rapid and cost-effective assay for the genotypic identification of CHM without the need for a maternal component.The method combined the characteristics of STR loci distributed across different chromosomes and developed the clinic application of forensic biomarkers.
基金Supported by The "Academic Frontier" project for Private University:a matching fund subsidy from MEXT(Ministry of Education,Culture,Sports,Science and Technology),2006-2010(to Tashiro F)
文摘Deregulated c-Myc expression is a hallmark of many human cancers. We have recently identified a role of mammalian homolog of yeast SPT-ADA-GCN5-acetyltransferas(SAGA) complex component, SAGAassociated factor 29(SGF29), in regulating the c-Myc overexpression. Here, we discuss the molecular nature of SFG29 in SPT3-TAF9-GCN5-acetyltransferase complex, a counterpart of yeast SAGA complex, and the mechanism through which the elevated SGF29 expression contribute to oncogenic potential of c-Myc in hepatocellularcarcinoma(HCC). We propose that the upstream regulation of SGF29 elicited by sexdetermining region Y(Sry) is also augmented in HCC. We hypothesize that c-Myc elevation driven by the deregulated Sry and SGF29 pathway is implicated in the male specific acquisition of human HCCs.
