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A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome Hereditas (IF 2.412) Pub Date : 2021-01-06 Yuduo Wu; Hairui Sun; Yihua He; Hongjia Zhang
Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-gene splicing assay to demonstrate the predicted harmful effects of an intronic variant of FBN-1. Exome
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Identification of differentially expressed genes, signaling pathways and immune infiltration in rheumatoid arthritis by integrated bioinformatics analysis Hereditas (IF 2.412) Pub Date : 2021-01-04 Yanzhi Ge; Li Zhou; Zuxiang Chen; Yingying Mao; Ting Li; Peijian Tong; Letian Shan
The disability rate associated with rheumatoid arthritis (RA) ranks high among inflammatory joint diseases. However, the cause and potential molecular events are as yet not clear. Here, we aimed to identify differentially expressed genes (DEGs), pathways and immune infiltration involved in RA utilizing integrated bioinformatics analysis and investigating potential molecular mechanisms. The expression
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Mediators of SARS-CoV-2 entry are preferentially enriched in cardiomyocytes Hereditas (IF 2.412) Pub Date : 2021-01-04 Jing Yang; Tan Chen; Yafeng Zhou
The coronavirus disease 2019 (COVID-19) has spread rapidly around the world. In addition to common respiratory symptoms such as cough and fever, some patients also have cardiac injury, however, the mechanism of cardiac injury is not clear. In this study, we analyzed the RNA expression atlases of angiotensin-converting enzyme 2(ACE2), cathepsin B (CTSB) and cathepsin L (CTSL) in the human embryonic
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IFI27 may predict and evaluate the severity of respiratory syncytial virus infection in preterm infants Hereditas (IF 2.412) Pub Date : 2021-01-02 Junyan Gao; Xueping Zhu; Mingfu Wu; Lijun Jiang; Fudong Wang; Shan He
Preterm infants are a special population that vulnerable to respiratory syncytial virus (RSV) infection and the lower respiratory tract infections (LRTIs) caused by RSV could be severe and even life-threating. The purpose of the present study was to identify candidate genes of preterm infants who are susceptible to RSV infection and provide a new insight into the pathogenesis of RSV infection. Three
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Immunological analysis and differential genes screening of venous thromboembolism Hereditas (IF 2.412) Pub Date : 2021-01-02 Li-Na Gao; Qiang Li; Jian-Qin Xie; Wan-Xia Yang; Chong-Ge You
To explore the pathogenesis of venous thromboembolism (VTE) and provide bioinformatics basis for the prevention and treatment of VTE. The R software was used to obtain the gene expression profile data of GSE19151, combining with the CIBERSORT database, obtain immune cells and differentially expressed genes (DEGs) of blood samples of VTE patients and normal control, and analyze DEGs for GO analysis
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Defining muscle-invasive bladder cancer immunotypes by introducing tumor mutation burden, CD8+ T cells, and molecular subtypes Hereditas (IF 2.412) Pub Date : 2021-01-02 Zihao Chen; Guojun Liu; Guoqing Liu; Mikhail A. Bolkov; Khyber Shinwari; Irina A. Tuzankina; Valery A. Chereshnev; Zhifeng Wang
Immunotherapy, especially anti-PD-1, is becoming a pillar of modern muscle-invasive bladder cancer (MIBC) treatment. However, the objective response rates (ORR) are relatively low due to the lack of precise biomarkers to select patients. Herein, the molecular subtype, tumor mutation burden (TMB), and CD8+ T cells were calculated by the gene expression and mutation profiles of MIBC patients. MIBC immunotypes
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The reversal of human phylogeny: Homo left Africa as erectus, came back as sapiens sapiens Hereditas (IF 2.412) Pub Date : 2020-12-19 Úlfur Árnason; Björn Hallström
The molecular out of Africa hypothesis, OOAH, has been considered as an established fact amid population geneticists for some 25–30 years despite the early concern with it among phylogeneticists with experience beyond that of Homo. The palaeontological support for the hypothesis is also questionable, a circumstance that in the light of expanding Eurasian palaeontological knowledge has become accentuated
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A century of Hereditas: from local publication to international journal Hereditas (IF 2.412) Pub Date : 2020-12-09 Anna Tunlid; Ulf Kristoffersson; Fredrik Åström
The Mendelian Society of Lund launched Hereditas in 1920. The purpose of this article is to give an overview of Hereditas’s hundred-year existence, focusing on the conditions for a learned society to publish a scientific journal, and the journal’s importance for the publication and dissemination of genetic research. The article focuses on the historical development of the journal and analyses how the
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Population genomics of East Asian ethnic groups Hereditas (IF 2.412) Pub Date : 2020-12-08 Ziqing Pan; Shuhua Xu
East Asia constitutes one-fifth of the global population and exhibits substantial genetic diversity. However, genetic investigations on populations in this region have been largely under-represented compared with European populations. Nonetheless, the last decade has seen considerable efforts and progress in genome-wide genotyping and whole-genome sequencing of the East-Asian ethnic groups. Here, we
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Race biology Hereditas (IF 2.412) Pub Date : 2020-11-25 Anssi Saura
The founders of Hereditas envisioned that race biology would be a major subject that had social applications with utmost importance in the near future. Anthropometrics was in this context understood to be the pure and eugenics the applied science. Sweden had a long tradition in physical anthropometry. Herman Lundborg, member of the advisory board of Hereditas, united the anthropometric and eugenic
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Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss Hereditas (IF 2.412) Pub Date : 2020-11-24 Jing Yu; Wei Jiang; Li Cao; Xiaoxue Na; Jiyun Yang
Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing
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The homeodomain transcription factor Orthopedia is involved in development of the Drosophila hindgut Hereditas (IF 2.412) Pub Date : 2020-11-19 Kirsten Hildebrandt; Nicole Bach; Dieter Kolb; Uwe Walldorf
The Drosophila hindgut is commonly used model for studying various aspects of organogenesis like primordium establishment, further specification, patterning, and morphogenesis. During embryonic development of Drosophila, many transcriptional activators are involved in the formation of the hindgut. The transcription factor Orthopedia (Otp), a member of the 57B homeobox gene cluster, is expressed in
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The centenary of Hereditas - almost a fairytale Hereditas (IF 2.412) Pub Date : 2020-11-07 Yongyong Shi; Stefan Baumgartner
This is the Editorial for a series of articles illuminating the history and success story of Hereditas, one of the oldest journals in the area of genetics. For this reason, we invite you to read this special series on a journal with a distinct reputation and which can celebrate its Centenary in 2020.
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Göte Turesson’s research legacy to Hereditas: from the ecotype concept in plants to the analysis of landraces’ diversity in crops Hereditas (IF 2.412) Pub Date : 2020-11-07 Rodomiro Ortiz
Hereditas began with articles on plants since its first issue in May 1920 (six out of eight) and continued with more original articles (43% of the total of this journal) on plants (of which 72% of those in plants were on crops) until today. In December 1922, the 140-page article The Genotypical Response of the Plant Species to the Habitat by evolutionary botanist Göte Turesson (Institute of Genetics
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Exploring the mRNA expression level of RELN in peripheral blood of schizophrenia patients before and after antipsychotic treatment Hereditas (IF 2.412) Pub Date : 2020-11-06 Jiajun Yin; Yana Lu; Shui Yu; Zhanzhan Dai; Fuquan Zhang; Jianmin Yuan
The Reelin (RELN) gene encodes the protein reelin, which is a large extracellular matrix glycoprotein that plays a key role in brain development. Additionally, this protein may be involved in memory formation, neurotransmission, and synaptic plasticity, which have been shown to be disrupted in schizophrenia (SCZ). A decreasing trend in the expression of RELN mRNA in the brain and peripheral blood of
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Weighted gene co-expression network analysis revealed key biomarkers associated with the diagnosis of hypertrophic cardiomyopathy Hereditas (IF 2.412) Pub Date : 2020-10-24 Xin Li; Chenxin Wang; Xiaoqing Zhang; Jiali Liu; Yu Wang; Chunpu Li; Dongmei Guo
To reveal the molecular mechanism underlying the pathogenesis of HCM and find new effective therapeutic strategies using a systematic biological approach. The WGCNA algorithm was applied to building the co-expression network of HCM samples. A sample cluster analysis was performed using the hclust tool and a co-expression module was constructed. The WGCNA algorithm was used to study the interactive
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Enhancer of mRNA Decapping protein 4 (EDC4) interacts with replication protein a (RPA) and contributes to Cisplatin resistance in cervical Cancer by alleviating DNA damage Hereditas (IF 2.412) Pub Date : 2020-10-14 Xiaoling Wu; Youwen Zhong; Qing Chen; Xin Zhang; Hua Zhang
Cervical cancer (CC) is the third most common gynecological malignancy around the world. Cisplatin is an effective drug, but cisplatin resistance is a vital factor limiting the clinical usage of cisplatin. Enhancer of mRNA decapping protein 4 (EDC4) is a known regulator of mRNA decapping, which was related with genome stability and sensitivity of drugs. This research was to investigate the mechanism
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Genetic diversity of avocado from the southern highlands of Tanzania as revealed by microsatellite markers. Hereditas (IF 2.412) Pub Date : 2020-09-14 Ibrahim Juma,Mulatu Geleta,Agnes Nyomora,Ganapathi Varma Saripella,Helena Persson Hovmalm,Anders S Carlsson,Moneim Fatih,Rodomiro Ortiz
Avocado is an important cash crop in Tanzania, however its genetic diversity is not thoroughly investigated. This study was undertaken to explore the genetic diversity of avocado in the southern highlands using microsatellite markers. A total of 226 local avocado trees originating from seeds were sampled in eight districts of the Mbeya, Njombe and Songwe regions. Each district was considered as a population
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Comparative transcriptomic analysis of the tea plant (Camellia sinensis) reveals key genes involved in pistil deletion. Hereditas (IF 2.412) Pub Date : 2020-09-08 Yufei Liu,Dandan Pang,Yiping Tian,Youyong Li,Huibing Jiang,Yunnan Sun,Lifei Xia,Linbo Chen
The growth process of the tea plant (Camellia sinensis) includes vegetative growth and reproductive growth. The reproductive growth period is relatively long (approximately 1.5 years), during which a large number of nutrients are consumed, resulting in reduced tea yield and quality, accelerated aging, and shortened economic life of the tea plant. The formation of unisexual and sterile flowers can weaken
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A seven-gene signature model predicts overall survival in kidney renal clear cell carcinoma. Hereditas (IF 2.412) Pub Date : 2020-09-03 Ling Chen,Zijin Xiang,Xueru Chen,Xiuting Zhu,Xiangdong Peng
Kidney renal clear cell carcinoma (KIRC) is a potentially fatal urogenital disease. It is a major cause of renal cell carcinoma and is often associated with late diagnosis and poor treatment outcomes. More evidence is emerging that genetic models can be used to predict the prognosis of KIRC. This study aimed to develop a model for predicting the overall survival of KIRC patients. We identified 333
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Microarray data analysis reveals gene expression changes in response to ionizing radiation in MCF7 human breast cancer cells. Hereditas (IF 2.412) Pub Date : 2020-09-03 Jing Bai,Youzhen Luo,Shengchu Zhang
The aim of this study was to identify potential therapeutic target genes for breast cancer (BC) by the investigation of gene expression changes after ionizing radiation (IR) in BC cells. Gene expression profile GSE21748, including BC cell line MCF-7 samples at different time points after IR treatment, were downloaded from Gene Expression Omnibus. Differentially expressed genes (DEGs) were identified
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PP2A and tumor radiotherapy. Hereditas (IF 2.412) Pub Date : 2020-08-26 Xiao Lei,Na Ma,Lehui Du,Yanjie Liang,Pei Zhang,Yanan Han,Baolin Qu
Protein phosphatase 2A (PP2A) is a serine/threonine phosphatase that serves as a key regulator of cellular physiology in the context of apoptosis, mitosis, and DNA damage responses. Canonically, PP2A functions as a tumor suppressor gene. However, recent evidence suggests that inhibiting PP2A activity in tumor cells may represent a viable approach to enhancing tumor sensitivity to chemoradiotherapy
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Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation. Hereditas (IF 2.412) Pub Date : 2020-08-26 Yun Zou,Yi Sun,Xiaojing Zeng,Yun Liu,Qingqing Cen,Hao Gu,Xiaoxi Lin,Ren Cai,Hui Chen
Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis. CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. A recent study reported mutation of MAP2K1, a downstream effector of the RAS-RAF-MEK pathway, in melanoma
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A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. Hereditas (IF 2.412) Pub Date : 2020-08-25 Yi Zhan,Shuaihantian Luo,Zixin Pi,Guiying Zhang
Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were
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Association between polymorphisms in mannose-binding lectin 2 gene with pulmonary tuberculosis susceptibility. Hereditas (IF 2.412) Pub Date : 2020-08-03 Wenhao Shen,Li Xiao,Yang Li,Daming Zhou,Wei Zhang
Mannose-binding lectin (MBL2) is considered to play a role in the human innate immune response to tuberculosis (TB) infections, and 4 common single nucleotide polymorphisms (SNPs) may be associated with pulmonary tuberculosis (PTB) risk. To examine these potential associations, we performed a comprehensive analysis to assess the relationships between MBL2 polymorphisms and PTB. The PubMed, Embase,
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Identification of MMP1 as a potential gene conferring erlotinib resistance in non-small cell lung cancer based on bioinformatics analyses. Hereditas (IF 2.412) Pub Date : 2020-07-23 Huyue Zhou,Qiumei Xiang,Changpeng Hu,Jing Zhang,Qian Zhang,Rong Zhang
Non-small cell lung cancer (NSCLC) is the major type of lung cancer with high morbidity and poor prognosis. Erlotinib, an inhibitor of epidermal growth factor receptor (EGFR), has been clinically applied for NSCLC treatment. Nevertheless, the erlotinib acquired resistance of NSCLC occurs inevitably in recent years. Through analyzing two microarray datasets, erlotinib resistant NSCLC cells microarray
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Re-testing reported significant SNPs related to suicide in a historical high -risk isolated population from north east India. Hereditas (IF 2.412) Pub Date : 2020-07-17 Gaurav Gupta,Ravi Deval,Anshuman Mishra,Shashank Upadhyay,Piyoosh Kumar Singh,V R Rao
Genetic diathesis of suicide is supported by family and twin studies. Few candidate gene pathways are known, but does not explain fully the complexity of suicide genetic risk. Recent investigations opting for Genome-Wide Association Studies (GWAS) resulted in finding additional targets, but replication remained a challenge. In this respect small isolated population approach in several complex disease
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Identification of candidate biomarkers and pathways associated with psoriasis using bioinformatics analysis. Hereditas (IF 2.412) Pub Date : 2020-07-15 Yongqi Luo,Yangyang Luo,Jing Chang,Zhenghui Xiao,Bin Zhou
The aim of this study was to identify the candidate biomarkers and pathways associated with psoriasis. GSE13355 and GSE14905 were extracted from the Gene Expression Omnibus (GEO) database. Then the differentially expressed genes (DEGs) with |logFC| > 2 and adjusted P < 0.05 were chosen. In addition, the Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses
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Identification of potential crucial genes and key pathways in osteosarcoma. Hereditas (IF 2.412) Pub Date : 2020-07-14 Junwei Liu,Siyu Wu,Xiaoyu Xie,Ziming Wang,Qianqian Lei
The aim of this study is to identify the potential pathogenic and metastasis-related differentially expressed genes (DEGs) in osteosarcoma through bioinformatic analysis of Gene Expression Omnibus (GEO) database. Gene expression profiles of GSE14359, GSE16088, and GSE33383, in total 112 osteosarcoma tissue samples and 7 osteoblasts, were analyzed. Seventy-four normal-primary DEGs (NPDEGs) and 764 primary-metastatic
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miR-183-3p suppresses proliferation and migration of keratinocyte in psoriasis by inhibiting GAB1. Hereditas (IF 2.412) Pub Date : 2020-07-10 Ting Liu,Xiaoyan Zhang,Yujuan Wang
MicroRNAs (miRNAs) target genes involved in the hyperproliferation of keratinocytes or immune dysfunction of psoriasis. This study prospectively determined the involvement of miR-183-3p in the pathogenesis of psoriasis. Differentially expressed miR-183-3p between psoriatic lesional and non-lesional skin were determined by quantitative RT-PCR and in situ hybridization (ISH). CCK8 and wound healing assays
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Unilateral and segmental distribution of facial erythema: is it a real port-wine stain? Hereditas (IF 2.412) Pub Date : 2020-07-07 Qingqing Cen,Yi Sun,Xiaojing Zeng,Yun Liu,Fatao Liu,Hui Chen,Xiaoxi Lin,Ren Cai
Capillary malformation-arteriovenous malformations (CM-AVMs) caused by a RASA-1 or EPHB4 mutation are characterized as hereditary sporadic or multifocal capillary malformations (CMs), associated with potential fast-flow vascular anomalies underlying erythema lesions. Because of the similar phenotype, CM-AVMs should be considered in the differential diagnosis of isolated CMs as well as other disorders
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Common variants in LAMC1 confer risk for pelvic organ prolapse in Chinese population. Hereditas (IF 2.412) Pub Date : 2020-07-07 Juan Chen,Lei Li,Jinghe Lang,Lan Zhu
Pelvic organ prolapse (POP) affects around 15% of postmenopausal women in China. Although it has been widely accepted that genetic variants could confer risk for POP, the genetic susceptibility variants remain largely unknown. Previous studies indicated that LAMC1, which encodes the laminin gamma 1 chain and is critical for extracellular matrix, might be a susceptibility gene for POP. The study is
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Aberrant expression for microRNA is potential crucial factors of haemorrhoid. Hereditas (IF 2.412) Pub Date : 2020-07-03 Chengkun Song,Haikun Zhou,Hong Lu,Chunsheng Luo,Chen Wang,Qingming Wang,Yunhua Peng,Yaojie Xin,Te Liu,Wei Yang
Haemorrhoids occur commonly and frequently in the human digestive system. There are diverse causes of haemorrhoids and their in-depth pathogenesis is still currently unclear. In this study, we explored haemorrhoids from an epigenetics perspective by employing RNA-Seq for comprehensive and in-depth analysis of the differences in microRNA (miRNA) transcripts between haemorrhoidal tissue and normal tissue
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Development of novel EST microsatellite markers for genetic diversity analysis and correlation analysis of velvet antler growth characteristics in Sika deer. Hereditas (IF 2.412) Pub Date : 2020-06-26 Boyin Jia,Guiwu Wang,Junjun Zheng,Wanyun Yang,Shuzhuo Chang,Jiali Zhang,Yuan Liu,Qining Li,Chenxia Ge,Guang Chen,Dongdong Liu,Fuhe Yang
Sika deer is one of the most popular and valued animals in China. However, few studies have been conducted on the microsatellite of Sika deer, which has hampered the progress of genetic selection breeding. To develop and characterize a set of microsatellites for Sika deer which provide helpful information for protection of Sika deer natural resources and effectively increase the yield and quantity
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Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing. Hereditas (IF 2.412) Pub Date : 2020-05-23 Yan Meng,Jun Yang,Chan Tian,Jie Qiao
WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki-Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses, parietal foramina development delay, mental retardation, and facial dysmorphism
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Relationship between circulating miR-132 and non-alcoholic fatty liver disease in a Chinese population. Hereditas (IF 2.412) Pub Date : 2020-05-22 Yicen Zong,Jing Yan,Li Jin,Bo Xu,Zhen He,Rong Zhang,Cheng Hu,Weiping Jia
BACKGROUND Non-invasive diagnostic markers are of great importance for early screening nonalcoholic fatty liver disease (NAFLD). MicroRNAs (miRNAs) play significant roles in many metabolic disease, including NAFLD. Therefore, this study focusd on a Chinese population to explore the possible correlation between circulating miR-132 and NAFLD. RESULTS Serum miR-132 was positively associated with NAFLD
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Giant congenital melanocytic nevus of the scalp: from clinical-histological to molecular diagnosis. Hereditas (IF 2.412) Pub Date : 2020-05-19 Yi Sun,Yun Zou,Lizhen Wang,Hao Gu,Qingqing Cen,Hui Chen,Xiaoxi Lin,Ren Cai
Congenital melanocytic nevus (CMN) is a benign proliferative skin disease in the epidermis and dermis. Large to giant CMNs are estimated to be associated with an increased lifetime risk of malignancy. It is necessary to estimate and monitor the risk of malignant transformation for giant CMNs. To date, the clinical "ABCD" criteria and immunohistochemistry studies can be confusing and, to some extent
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Transcriptome analysis on responses of orchardgrass (Dactylis glomerata L.) leaves to a short term flooding. Hereditas (IF 2.412) Pub Date : 2020-05-17 Dandan Qiao,Yajie Zhang,Xuemei Xiong,Mingyang Li,Kai Cai,Hui Luo,Bing Zeng
BACKGROUND Orchardgrass (Dactylis glomerata L.) is a popular cool-season perennial grass with a high production value, and orchardgrass seed is the fourth top-selling forage grass seed in the world. However, its yield and quality are often affected by flooding. To date, the molecular responses of orchardgrass to flooding were poorly understood. RESULTS Here, we performed mRNA-seq to explore the transcriptomic
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Genome-wide variations analysis of sorghum cultivar Hongyingzi for brewing Moutai liquor. Hereditas (IF 2.412) Pub Date : 2020-05-14 Lingbo Zhou,Can Wang,Xu Gao,Yanqing Ding,Bin Cheng,Guobing Zhang,Ning Cao,Yan Xu,Mingbo Shao,Liyi Zhang
BACKGROUND Hongyingzi is a sorghum (Sorghum bicolor L. Moench) cultivar for brewing Moutai liquor. For an overall understanding of the whole genome of Hongyingzi, we performed whole-genome resequencing technology to reveal its comprehensive variations. RESULTS Compared with the BTx623 reference genome, we uncovered 1,885,774 single nucleotide polymorphisms (SNPs), 309,381 small fragments insertions
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Suppression of miR-330-3p alleviates DSS-induced ulcerative colitis and apoptosis by upregulating the endoplasmic reticulum stress components XBP1. Hereditas (IF 2.412) Pub Date : 2020-05-09 Qifeng Chen,Xiaoming Fang,Ning Yao,Fang Wu,Biao Xu,Zhengguang Chen
BACKGROUND This study aimed to explore the biological activities of miR-330-3p in dextan sulphate sodium (DSS)-induced ulcerative colitis and apoptosis and the direct target of miR-330-3p in this process. HT-29 cells and male C57BL/6 mice were used to examine the function of miR-330-3p in vitro and in vivo, respectively. Expression of miRNA and mRNA was measured using quantitative real time PCR (qRT-PCR)
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ggroups: an R package for pedigree and genetic groups data. Hereditas (IF 2.412) Pub Date : 2020-05-04 Mohammad Ali Nilforooshan,Luis Antonio Saavedra-Jiménez
BACKGROUND R is a multi-platform statistical software and an object oriented programming language. The package archive network for R provides CRAN repository that features over 15,000 free open source packages, at the time of writing this article (https://cran.r-project.org/web/packages, accessed in October 2019). The package ggroups is introduced in this article. The purpose of this package is providing
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Association between methylenetetrahydrofolate reductase gene rs1801131 A/C polymorphism and urinary tumors' susceptibility. Hereditas (IF 2.412) Pub Date : 2020-04-27 Shuaili Xu,Li Zuo
BACKGROUND The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant results in a decrease in MTHFR enzymatic activity, which may play an important role in folate metabolism and is also an important source of DNA methylation and DNA synthesis. Several case-control studies have been conducted to assess the association of MTHFR rs1801131 polymorphism with the risk of urinary cancers, yet
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microRNA-9 might be a novel protective factor for osteoarthritis patients. Hereditas (IF 2.412) Pub Date : 2020-04-22 Lei Jiang,Xu Sun,Hongyang Kong
BACKGROUND The study aimed to identify the targeting genes and miRNAs using the microarray expression profile dataset for Osteoarthritis (OA) patients. Differentially expressed genes (DEGs) between OA and control samples were identified using Bayes method of limma package. Subsequently, a protein-protein interaction (PPI) network was constructed. miRNAs and transcription factor (TFs) based on DEGs
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A fructan: the fructan 1-fructosyl-transferase gene from Helianthus tuberosus increased the PEG-simulated drought stress tolerance of tobacco. Hereditas (IF 2.412) Pub Date : 2020-04-20 Xuemei Sun,Yuan Zong,Shipeng Yang,Lihui Wang,Jieming Gao,Ying Wang,Baolong Liu,Huaigang Zhang
BACKGROUND Jerusalem artichoke (Helianthus tuberosus) is a fructan-accumulating plant, and an industrial source of raw material for fructan production, but the crucial enzymes involved in fructan biosynthesis remain poorly understood in this plant. RESULTS In this study, a fructan: fructan 1-fructosyl-transferase (1-FFT) gene, Ht1-FFT, was isolated from Jerusalem artichoke. The coding sequence of Ht1-FFT
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Investigation of the gene co-expression network and hub genes associated with acute mountain sickness. Hereditas (IF 2.412) Pub Date : 2020-04-16 Yue Chang,Jiange He,Jiqiang Tang,Kai Chen,Zhenguo Wang,Qun Xia,Hai Li
BACKGROUND Acute mountain sickness has become a heavily researched topic in recent years. However, the genetic mechanism and effects have not been elucidated. Our goal is to construct a gene co-expression network to identify the key modules and hub genes associated with high altitude hypoxia. RESULTS The GSE46480 dataset of rapidly transported healthy adults with acute mountain sickness was selected
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No association between three polymorphisms (rs1800629, rs361525 and rs1799724) in the tumor necrosis factor-α gene and susceptibility to prostate cancer: a comprehensive meta-analysis. Hereditas (IF 2.412) Pub Date : 2020-04-07 Lei Yin,Chuang Yue,Hongwei Jing,Hongyuan Yu,Li Zuo,Tao Liu
BACKGROUND Inflammation is one of the factors associated with prostate cancer. The cytokine tumor necrosis factor-alpha (TNF-α) plays an important role in inflammation. Several studies have focused on the association between TNF-α polymorphisms and prostate cancer development. Our meta-analysis aimed to estimate the association between TNF-α rs1800629 (- 308 G/A), rs361525 (- 238 G/A) and rs1799724
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No association between interleukin-18 levels and risk of cardiovascular disease: A Mendelian randomization study. Hereditas (IF 2.412) Pub Date : 2020-04-07 Siyu Fan,Pan He,Jieqiong Guan,Wenjing Song,Hong Zhi,Lina Wang
OBJECTIVE In this study, Mendelian randomization method was used to determine whether there was a causal association between inflammatory cytokine IL-18 and cardiovascular disease risk. METHODS We performed a meta-analysis to evaluate the association between IL-18-137G/C and -607C/A polymorphisms and phenotype of IL-18 levels, and also the risks of CVD. All the literatures were searched before September
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Characterization and functional analysis of SIAH1 during skin and hair follicle development in the angora rabbit ( Oryctolagus cuniculus ) Hereditas (IF 2.412) Pub Date : 2020-04-06 Tong Zhou,Yang Chen,Bohao Zhao,Shuaishuai Hu,Jiali Li,Ming Liu,Shuang Liang,Zhiyuan Bao,Xinsheng Wu
Background Seven in absentia homolog 1 ( SIAH1 ) is an E3 ubiquitin ligase containing a RING-finger domain and a key regulator of normal development. Skin and hair follicle development is a complex and special process of morphogenesis involving multiple signaling pathways. SIAH1 is enriched in the Wnt signaling pathway and potentially related to hair follicle cycle and skin development. This study
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Comparative transcriptome analysis reveals gene expression differences between two peach cultivars under saline-alkaline stress Hereditas (IF 2.412) Pub Date : 2020-03-31 Shuxia Sun,Haiyan Song,Jing Li,Dong Chen,Meiyan Tu,Guoliang Jiang,Guoqing Yu,Zhiqin Zhou
Background Saline-alkaline stress is a major abiotic stress that is harmful to plant growth worldwide. Two peach cultivars (GF677 and Maotao) display distinct phenotypes under saline-alkaline stress. The molecular mechanism explaining the differences between the two cultivars is still unclear. Results In the present study, we systematically analysed the changes in GF677 and Maotao leaves upon saline-alkaline
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STRsearch: a new pipeline for targeted profiling of short tandem repeats in massively parallel sequencing data Hereditas (IF 2.412) Pub Date : 2020-03-16 Dong Wang,Ruiyang Tao,Zhiqiang Li,Dun Pan,Zhuo Wang,Chengtao Li,Yongyong Shi
Background Short tandem repeats (STRs) are important polymorphism makers for human identification and kinship analyses in forensic science. With the continuous development of massively parallel sequencing (MPS), more laboratories have utilized this technology for forensic applications. Existing STR genotyping tools, mostly developed for whole-genome sequencing data, are not effective for MPS data.
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Evaluation of heritability of β-eudesmol/hinesol content ratio in Atractylodes lancea De Candolle Hereditas (IF 2.412) Pub Date : 2020-03-11 Takahiro Tsusaka,Bunsho Makino,Ryo Ohsawa,Hiroshi Ezura
Background Atractylodes lancea De Candolle is a medicinal plant distributed in East Asia. Its rhizome has been used as an important crude drug in traditional Chinese and Japanese medicines for the treatment of numerous diseases and disorders. In recent years, the demand for mass production of the crude drug with a stable quality has increased. Its major active compounds are sesquiterpenoids, such as
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Identification of differentially expressed miRNAs in differentiating benign from malignant pleural effusion. Hereditas (IF 2.412) Pub Date : 2020-02-26 Quanlei Bao,Yaping Xu,Ming Ding,Ping Chen
BACKGROUND Tuberculosis pleural effusion (TPE) and malignant pleural effusion (MPE) are very common clinical complications. Considering the totally different prognosis and clinical treatment of TPE and MPE, the accurate and non-invasive diagnosis are very critical for patients with pleural effusion to initiate efficient management and treatment. However, effective clinical biomarkers were rarely explored
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Advances in salt tolerance molecular mechanism in tobacco plants. Hereditas (IF 2.412) Pub Date : 2020-02-24 Haiji Sun,Xiaowen Sun,Hui Wang,Xiaoli Ma
Tobacco, an economic crop and important model plant, has received more progress in salt tolerance with the aid of transgenic technique. Salt stress has become a key research field in abiotic stress. The study of tobacco promotes the understanding about the important adjustment for survival in high salinity environments, including cellular ion transport, osmotic regulation, antioxidation, signal transduction
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Morphological variation in Cynodon dactylon (L.) Pers., and its relationship with the environment along a longitudinal gradient. Hereditas (IF 2.412) Pub Date : 2020-02-12 Miaoli Wang,Jingxue Zhang,Zhipeng Guo,Yongzhuo Guan,Gen Qu,Jianyu Liu,Yuxia Guo,Xuebing Yan
BACKGROUND Geographical variation in morphological traits may reflect evolutionary patterns of morphological adaptability along environmental gradients. Comprehensive information on longitudinal patterns of morphological trait variation is very meaningful to explore morphological diversity and evolutionary trends in widespread bermudagrass. METHODS To explore the spatial patterns of morphological traits
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Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout. Hereditas (IF 2.412) Pub Date : 2020-01-27 Zheng Dong,Jingru Zhou,Shuai Jiang,Yuan Li,Dongbao Zhao,Chengde Yang,Yanyun Ma,Hongjun He,Hengdong Ji,Li Jin,Hejian Zou,Jiucun Wang
BACKGROUND Genetic background affects serum urate concentration and gout risk, especially regarding these variants in the urate-transporter gene ABCG2. However, the role of epistasis between PKD2 and ABCG2 on the pathogenesis of gout is poorly understood. Here we assess this epistatic interaction in the progression from elevated serum urate to gout. RESULTS We identified two epistatic interaction pairs
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Profiling of the germline mutation BRCA1 : p.Ile1845fs in a large cohort of Han Chinese breast cancer Hereditas (IF 2.412) Pub Date : 2019-12-31 Yu Wu,Huanhuan Zhang,Xiaoling Weng,Honglian Wang,Qinghua Zhou,Ying Wu,Yi Shen,Zhen Hu
Background Breast cancer is a one of the malignant carcinomas partially caused by genetic risk factors. Germline BRCA1 gene mutations are reportedly associated with breast cancers. Identification of BRCA1 mutations greatly improves the preventive strategies and management of breast cancer. The aim of our study was to investigate the frequency of the deleterious BRCA1 : p.Ile1845fs variant in breast
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Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report Hereditas (IF 2.412) Pub Date : 2019-12-26 Hongyan Lv,Baojun Qiao,Liyuan Fang,Lihong Yang,Qiuli Wang,Sujing Wu,Pengshun Ren,Lianxiang Li
Objective To investigate the clinical and genetic characteristics of neonatal Crohn’s disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed. Methods A 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities. The patient
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Genetic interactions between Protein Kinase D and Lobe mutants during eye development of Drosophila melanogaster Hereditas (IF 2.412) Pub Date : 2019-12-19 Dieter Maier,Anja C. Nagel,Anette Preiss
Background In Drosophila, the development of the fly eye involves the activity of several, interconnected pathways that first define the presumptive eye field within the eye anlagen, followed by establishment of the dorso-ventral boundary, and the regulation of growth and apoptosis. In Lobe (L) mutant flies, parts of the eye or even the complete eye are absent because the eye field has not been properly
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Responses of earliness and lateness genes for heading to different photoperiods, and specific response of a gene or a pair of genes to short day length in rice Hereditas (IF 2.412) Pub Date : 2019-12-18 Birendra Bahadur Rana,Misa Kamimukai,Mukunda Bhattarai,Yohei Koide,Masayuki Murai
Background Heading time is an important trait for regional and seasonal adaptabilities in rice, and is controlled by genetic factors in relation with environmental factors, mainly day length and temperature. The following genes controlling heading were examined for their responses to six different environmental conditions involving different day lengths using five early near-isogenic lines (NILs) of
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Identification of key microRNAs in the carotid arteries of ApoE-/- mice exposed to disturbed flow. Hereditas (IF 2.412) Pub Date : 2019-11-05 Xinzhou Wang,Shuibo Gao,Liping Dai,Zhentao Wang,Hong Wu
Background Atherosclerosis (AS) is one of the main causes of cardiovascular disease. AS plaques often occur in blood vessels with oscillatory blood flow and their formation can be regulated by microRNAs (miRNAs). The aim of this study is to identify the key miRNAs and molecular pathways involved in this pathological process. Methods In this study, gene chip data obtained from the GEO database was analyzed
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