International Journal of Genomics最新文献

{"title":"A Comparative Analyses of the Complete Mitochondrial Genomes of Fungal Endosymbionts in <i>Sogatella furcifera</i>, White-Backed Planthoppers.","authors":"Nak Jung Choi,&nbsp;Hong Xi,&nbsp;Jongsun Park","doi":"10.1155/2021/6652508","DOIUrl":"https://doi.org/10.1155/2021/6652508","url":null,"abstract":"<p><p><i>Sogatella furcifera</i> Horvath, commonly known as the white-backed planthoppers (WBPH), is an important pest in East Asian rice fields. Fungal endosymbiosis is widespread among planthoppers in the infraorder Fulgoromorpha and suborder Auchenorrhyncha. We successfully obtained complete mitogenome of five WBPH fungal endosymbionts, belonging to the Ophiocordycipitaceae family, from next-generation sequencing (NGS) reads obtained from <i>S. furcifera</i> samples. These five mitogenomes range in length from 55,390 bp to 55,406 bp, which is shorter than the mitogenome of the fungal endosymbiont found in <i>Ricania speculum</i>, black planthoppers. Twenty-eight protein-coding genes (PCGs), 12 tRNAs, and 2 rRNAs were found in the mitogenomes. Two single-nucleotide polymorphisms, two insertions, and three deletions were identified among the five mitogenomes, which were fewer in number than those of four species of Ophiocordycipitaceae, <i>Ophiocordyceps sinensis</i>, <i>Hirsutella thompsonii</i>, <i>Hirsutella rhossiliensis</i>, and <i>Tolypocladium inflatum</i>. Noticeably short lengths (up to 18 bp) of simple sequence repeats were identified in the five WBPH fungal endosymbiont mitogenomes. Phylogenetic analysis based on conserved PCGs across 25 Ophiocordycipitaceae mitogenomes revealed that the five mitogenomes were clustered with that of <i>R. speculum</i>, forming an independent clade. In addition to providing the full mitogenome sequences, obtaining complete mitogenomes of WBPH endosymbionts can provide insights into their phylogenetic positions without needing to isolate the mtDNA from the host. This advantage is of value to future studies involving fungal endosymbiont mitogenomes.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6652508"},"PeriodicalIF":2.9,"publicationDate":"2021-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39142223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Isoflavonoid Biosynthesis-Related R2R3-MYB Transcription Factors in <i>Callerya speciosa</i> (Champ. ex Benth.) Schot Using Transcriptome-Based Gene Coexpression Analysis.","authors":"Linchan Yu,&nbsp;Ding Huang,&nbsp;Jinyuan Gu,&nbsp;Dongjin Pan,&nbsp;Yong Tan,&nbsp;Rongshao Huang,&nbsp;Shaochang Yao","doi":"10.1155/2021/9939403","DOIUrl":"https://doi.org/10.1155/2021/9939403","url":null,"abstract":"The R2R3-MYB family is one of the largest plant transcription factor (TF) families playing vital roles in defense, plant growth, and secondary metabolism biosynthesis. Although this gene family has been studied in many species, isoflavonoid biosynthesis-related R2R3-MYB TFs in Callerya speciosa (Champ. ex Benth.) Schot, a traditional Chinese medicinal herb, are poorly understood. Here, a total of 101 R2R3-MYB TFs were identified from C. speciosa transcriptome dataset. 25 clades divided into five functional groups were clustered based on the sequence similarity and phylogenetic tree. Conserved motifs and domain distribution, expression patterns, and coexpression networks were also employed to identify the potential R2R3-MYB TFs in the regulation of isoflavonoid biosynthesis. In silico evaluation showed that the deduced R2R3-CsMYB proteins contain highly conserved R2R3 repeat domain at the N-terminal region, that is the signature motif of R2R3-type MYB TFs. Eight potential TFs (CsMYB17, CsMYB36, CsMYB41, CsMYB44, CsMYB45, CsMYB46, CsMYB72, and CsMYB81) had high degrees of coexpression with four key isoflavonoid biosynthetic genes (CsIFS, CsCHS7, CsHID-1, and CsCHI3), in which CsMYB36 as a potential regulator possessed the highest degree. HPLC analysis showed that formononetin and maackiain contents were significantly increased during the development of tuberous roots, which might be controlled by both related R2R3-CsMYBs and structural genes involved in the isoflavonoid biosynthesis pathway. The transcriptome data were further validated by reverse transcription real-time PCR (RT-qPCR) analysis, and similar expression profiles between TFs and key structural genes were identified. This study was the first step toward the understanding of the R2R3-MYB TFs regulating isoflavonoid biosynthesis in C. speciosa. The results will provide information for further functional analysis and quality improvement through genetic manipulation of these potential R2R3-CsMYB genes in C. speciosa.","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"9939403"},"PeriodicalIF":2.9,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8174187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39239386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Comparative Analyses of Six Complete Chloroplast Genomes of Morphologically Diverse <i>Chenopodium album</i> L. (Amaranthaceae) Collected in Korea.","authors":"Jongsun Park,&nbsp;Juhyeon Min,&nbsp;Yongsung Kim,&nbsp;Youngjae Chung","doi":"10.1155/2021/6643444","DOIUrl":"https://doi.org/10.1155/2021/6643444","url":null,"abstract":"<p><p><i>Chenopodium album</i> sensu stricto belonging to <i>C. album</i> aggregate is an annual cosmopolitan weed displaying the diversity of morphologies. We completed the six chloroplast genomes of <i>C. album</i> s. str. collected in Korea to understand the relationship between the diversity of chloroplast genomes and their morphological variations. All six <i>C. album</i> chloroplast genomes have a typical quadripartite structure with length ranging from 151,906 bp to 152,199 bp, similar to the previously sequenced <i>C. album</i> chloroplast genome (NC_034950). In total, 56 single nucleotide polymorphisms (SNPs) and 26 insertion and deletion (INDEL) regions (308 bp in total) were identified from the six chloroplast genomes, presenting a low level of intraspecific variations in comparison to the other angiosperm species. 376 normal simple sequence repeats were identified in all seven <i>C. album</i> chloroplast genomes. The phylogenetic analysis based on all available complete Amaranthaceae chloroplast genomes presents phylogenetic positions of six <i>C. album</i> samples as well as correlation with one of <i>C. album</i> morphological features. Our results provide the way to investigate intraspecific features of <i>C. album</i> chloroplast genomes and also the insights of understanding various intraspecific characteristics including morphological features.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6643444"},"PeriodicalIF":2.9,"publicationDate":"2021-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38989384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Diversity of Tef [<i>Eragrostis tef</i> (Zucc.)Trotter] as Revealed by Microsatellite Markers.","authors":"Mahilet Tadesse, Mulugeta Kebede, Dejene Girma","doi":"10.1155/2021/6672397","DOIUrl":"10.1155/2021/6672397","url":null,"abstract":"<p><p>Genetic variability is the fundamental prerequisite of any crop-breeding program to develop superior cultivars. There are about 350 <i>Eragrostis</i>1 species, of which, tef is the only species cultivated for human consumption. Currently, the Ethiopian Biodiversity Institute (EBI) collected over five thousand tef accessions from different geographical regions, diverse in terms of climate and elevation, which are uncharacterized yet. The objective of this study was to evaluate the genetic diversity among 64 tef accessions using 10 selected polymorphic simple sequence repeats (SSRs) markers. A total of 314 alleles were detected with an average of 14.5 alleles per locus and amplicon size ranged from 90 bp-320 bp. The mean value of polymorphic information content (PIC) was 0.87, appearing polymorphic for all loci. The lowest Fst value (0.05) was recorded among the studied tef populations. The mean value of major allele frequency and the number of effective alleles were 0.33 and 3.32, respectively. The mean value of gene flow (Nm) and Shannon's information index (I) was 4.74 and 1.65, respectively. The observed (Ho) and expected (He) heterozygosities varied from 0.34 to 0.56 and from 0.58 to 0.76, respectively. The cluster analysis has grouped the 64 tef accessions into three distinct clusters based on their similarity. The PCoA analysis showed that clustering is basing on the geographical origin of accessions. Analysis of molecular variance revealed 56%, 39% and 5% of the total variation due to variation within populations, among individuals and among populations, respectively. Structure bar-plot also inferred three gene pools, but with high level of admixtures. Thus, the present study shows that the identified tef accessions could be of great interest for the initiation of a planned breeding and conservation programs.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6672397"},"PeriodicalIF":2.9,"publicationDate":"2021-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8087483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38971262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combining Serum DNA Methylation Biomarkers and Protein Tumor Markers Improved Clinical Sensitivity for Early Detection of Colorectal Cancer.","authors":"Guoying Zhang,&nbsp;Fang He,&nbsp;Guodong Zhao,&nbsp;Zihui Huang,&nbsp;Xiang Li,&nbsp;Xia Xia,&nbsp;Yidi Guo,&nbsp;Weiping Xu,&nbsp;Shangmin Xiong,&nbsp;Yong Ma,&nbsp;Minxue Zheng,&nbsp;Wanli Liu","doi":"10.1155/2021/6613987","DOIUrl":"https://doi.org/10.1155/2021/6613987","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) is one of the leading causes of cancer deaths worldwide and in China. Early CRC screening is the best approach to reduce its incidence and mortality rates. The ColoDefense test, a multiplex qPCR assay simultaneously detecting both methylated <i>SEPT9</i> and <i>SDC2</i> genes, has demonstrated improved clinical performance on either methylation biomarker alone for CRC screening with both blood and stool samples.</p><p><strong>Method: </strong>Leftover blood chemistry test samples from 125 CRC, 35 advanced adenoma, and 35 small polyp patients and 92 healthy control subjects were examined by the ColoDefense test. Among these samples, the levels of three circulating tumor markers, CEA, AFP, and CA19-9, were also measured for 106 CRC, 28 advanced adenoma, and 20 small polyp patients and all control subjects.</p><p><strong>Results: </strong>Due to the smaller volume and extended storage in nonfrozen state, the ColoDefense test with these samples exhibited reduced performance for all stages of CRC and advanced adenomas. The performance of CEA, AFP, and CA19-9 and their various combinations was also evaluated for CRC screening to identify the tumor marker combinations with the best performance. When combined with the ColoDefense test, the identified combinations did improve the clinical performance.</p><p><strong>Conclusion: </strong>These results suggested a rational path towards developing a CRC screening method that takes advantage of leftover blood chemistry test samples. The successful development of such a method will undoubtedly help promote early CRC screening by increasing its accessibility for the general public.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6613987"},"PeriodicalIF":2.9,"publicationDate":"2021-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8084680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38971263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the Integrated Pathways and Mechanisms of Transporters, Protein Kinases, and Transcription Factors in Plants under Salt Stress.","authors":"Wasifa Hafiz Shah,&nbsp;Aadil Rasool,&nbsp;Seerat Saleem,&nbsp;Naveed Ul Mushtaq,&nbsp;Inayatullah Tahir,&nbsp;Khalid Rehman Hakeem,&nbsp;Reiaz Ul Rehman","doi":"10.1155/2021/5578727","DOIUrl":"https://doi.org/10.1155/2021/5578727","url":null,"abstract":"<p><p>Abiotic stress is the major threat confronted by modern-day agriculture. Salinity is one of the major abiotic stresses that influence geographical distribution, survival, and productivity of various crops across the globe. Plants perceive salt stress cues and communicate specific signals, which lead to the initiation of defence response against it. Stress signalling involves the transporters, which are critical for water transport and ion homeostasis. Various cytoplasmic components like calcium and kinases are critical for any type of signalling within the cell which elicits molecular responses. Stress signalling instils regulatory proteins and transcription factors (TFs), which induce stress-responsive genes. In this review, we discuss the role of ion transporters, protein kinases, and TFs in plants to overcome the salt stress. Understanding stress responses by components collectively will enhance our ability in understanding the underlying mechanism, which could be utilized for crop improvement strategies for achieving food security.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"5578727"},"PeriodicalIF":2.9,"publicationDate":"2021-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8057909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38886710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patterns of Natural Selection on Mitochondrial Protein-Coding Genes in Lungless Salamanders: Relaxed Purifying Selection and Presence of Positively Selected Codon Sites in the Family Plethodontidae.","authors":"Ryosuke Kakehashi, Atsushi Kurabayashi","doi":"10.1155/2021/6671300","DOIUrl":"10.1155/2021/6671300","url":null,"abstract":"<p><p>There are two distinct lungless groups in caudate amphibians (salamanders and newts) (the family Plethodontidae and the genus <i>Onychodactylus</i>, from the family Hynobiidae). Lunglessness is considered to have evolved in response to environmental and/or ecological adaptation with respect to oxygen requirements. We performed selection analyses on lungless salamanders to elucidate the selective patterns of mitochondrial protein-coding genes associated with lunglessness. The branch model and RELAX analyses revealed the occurrence of relaxed selection (an increase of the dN/dS ratio = <i>ω</i> value) in most mitochondrial protein-coding genes of plethodontid salamander branches but not in those of <i>Onychodactylus</i>. Additional branch model and RELAX analyses indicated that direct-developing plethodontids showed the relaxed pattern for most mitochondrial genes, although metamorphosing plethodontids had fewer relaxed genes. Furthermore, aBSREL analysis detected positively selected codons in three plethodontid branches but not in <i>Onychodactylus</i>. One of these three branches corresponded to the most recent common ancestor, and the others corresponded with the most recent common ancestors of direct-developing branches within Hemidactyliinae. The positive selection of mitochondrial protein-coding genes in Plethodontidae is probably associated with the evolution of direct development.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6671300"},"PeriodicalIF":2.9,"publicationDate":"2021-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38932272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective Use of Whole-Genome Sequencing Expands the Multicountry Outbreak Cluster of <i>Listeria monocytogenes</i> ST1247.","authors":"Mihkel Mäesaar,&nbsp;Rafael Mamede,&nbsp;Terje Elias,&nbsp;Mati Roasto","doi":"10.1155/2021/6636138","DOIUrl":"https://doi.org/10.1155/2021/6636138","url":null,"abstract":"<p><p><i>Listeria monocytogenes</i> sequence type 1247 clonal complex 8 caused a prolonged multicountry outbreak in five EU countries: Denmark, Estonia, Finland, France, and Sweden. A total of 22 disease cases were identified with onset of symptoms between July 2014 and February 2019. Five patients died due to, or with, the disease. The retrospective analysis of <i>L. monocytogenes</i> isolate VLTRLM2013 revealed the presence of an outbreak-related strain (cgMLST type L2-SL8-ST1247-CT4158) in ready-to-eat fish product more than a year prior to the first outbreak-related cases. Reference outbreak strain and VLTRLM2013 strain were compared using core genome and whole-genome multilocus sequence typing analyses. Genomic level differences of the persistent <i>L. monocytogenes</i> strains associated with a prolonged multicountry foodborne listeriosis outbreak are described. It was concluded that the persistent nature of the multicountry outbreak-related <i>L</i>. <i>monocytogenes</i> strain VLTRLM2013 together with stress island, virulence, and antibiotic resistance genes could potentially be the determining factors for the extensive and prolonged outbreak affecting five European Union countries. Our results support the systematic application of whole-genome sequencing in food and public health surveillance and further encourages its wide adoption.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6636138"},"PeriodicalIF":2.9,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38891445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MicroRNA-497-5p Is Downregulated in Hepatocellular Carcinoma and Associated with Tumorigenesis and Poor Prognosis in Patients.","authors":"Lin-Lin Tian,&nbsp;Bin Qian,&nbsp;Xiao-Hui Jiang,&nbsp;Yu-Shan Liu,&nbsp;Tong Chen,&nbsp;Cheng-You Jia,&nbsp;Ya-Li Zhou,&nbsp;Ji-Bin Liu,&nbsp;Yu-Shui Ma,&nbsp;Da Fu,&nbsp;Sen-Tai Ding","doi":"10.1155/2021/6670390","DOIUrl":"https://doi.org/10.1155/2021/6670390","url":null,"abstract":"<p><strong>Background: </strong>MicroRNAs (miRNAs) have been demonstrated to exhibit important regulatory roles in multiple malignancies, including hepatocellular carcinoma (HCC). hsa-miR-497-5p was reported to involve in cancer progression and poor prognosis in many kinds of tumors. However, the expression and its clinical significance of hsa-miR-497-5p in HCC remain unclear.</p><p><strong>Methods: </strong>In the present study, we investigated the expression of hsa-miR-497-5p in HCC and analyzed the correction of clinical features with prognosis. The expression levels of hsa-miR-497-5p and potential target genes were analyzed in HCC and adjacent noncancerous tissues using The Cancer Genome Atlas (TCGA) database and Gene Expression Omnibus (GEO) datasets. Real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to analyze hsa-miR-497-5p levels in 328 HCC tissues and 30 paired adjacent noncancer tissues. Overall survival (OS) and progression-free survival (PFS) of patients with HCC were assessed using the Kaplan-Meier method and the log-rank test.</p><p><strong>Results: </strong>The hsa-miR-497-5p expression levels were decreased, and its target genes ACTG1, CSNK1D, PPP1CC, and BIRC5 were upregulated in HCC tissues compared with normal tissues. Lower levels of hsa-miR-497-5p expression and higher levels of the four target genes were significantly associated with higher tumor diameter. Moreover, patients with lower hsa-miR-497-5p expression and higher target genes levels had shorter OS.</p><p><strong>Conclusion: </strong>The expression levels of hsa-miR-497-5p may play an important regulatory role in HCC and are closely correlated with HCC progression and poor prognosis in patients. The hsa-miR-497-5p may be a specific therapeutic target for the treatment of HCC.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6670390"},"PeriodicalIF":2.9,"publicationDate":"2021-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25559083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.","authors":"Xinxin Mao,&nbsp;Yan Wu,&nbsp;Shuangni Yu,&nbsp;Jie Chen","doi":"10.1155/2021/6666257","DOIUrl":"https://doi.org/10.1155/2021/6666257","url":null,"abstract":"<p><p>Genomic aberrations associated with atypical parathyroid adenoma (AA) are poorly understood. Thus, herein, we sought to expand our current understanding of the molecular basis of atypical parathyroid adenomas. We analyzed 134 samples that had been surgically obtained from parathyroid tumors, including parathyroid carcinomas, atypical parathyroid adenomas, and parathyroid adenomas. The tumors were harvested from formalin-fixed, paraffin-embedded tissues. Fifteen tumor-related genes from recently published genome sequencing data were subjected to targeted sequencing analysis, and an average sequencing depth of 500x was achieved. Sixteen (16/50, 32%) AA tumors harbored at least one of the following genomic alterations: <i>CDC73</i> (12, 24%), <i>EZH2</i> (4, 8%), <i>HIC1</i> (1, 2%), and <i>CDKN2A</i> (1, 2%). Our study identified, for the first time, a relatively high frequency of genomic alterations in patients with AA in a Chinese population. This suggests that AA arises <i>de novo</i>, rather than developing from a parathyroid adenoma. Altogether, these findings will improve our understanding of the malignant potential of parathyroid tumors at the molecular level.</p>","PeriodicalId":13988,"journal":{"name":"International Journal of Genomics","volume":"2021 ","pages":"6666257"},"PeriodicalIF":2.9,"publicationDate":"2021-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25526490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}