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Majid Aminzadeh, Nasrin Malekpour, Pegah Ghandil
BACKGROUND: Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives were to investigate clinical phenotypes and performed molecular studies in Iranian patients with MPS VI, for the first time, in the southwestern Iran. METHODS: We studied 14 cases from 10 unrelated kindreds with MPS VI that were enrolled during 8 years...
April 19, 2019: Gene
Samar Kabbara, Baptiste Bidon, Jaafar Kilani, Thomas Dugé de Bernonville, Marc Clastre, Vincent Courdavault, J Mark Cock, Nicolas Papon
No abstract text is available yet for this article.
April 19, 2019: Gene
Prabina Kumar Meher, Tanmaya Kumar Sahu, Shachi Gahoi, Subhrajit Satpathy, Atmakuri Ramakrishna Rao
Identification of splice sites is imperative for prediction of gene structure. Machine learning-based approaches (MLAs) have been reported to be more successful than the rule-based methods for identification of splice sites. However, the strings of alphabets should be transformed into numeric features through sequence encoding before using them as input in MLAs. In this study, we evaluated the performances of 8 different sequence encoding schemes i.e., Bayes kernel, density and sparse (DS), distribution of tri-nucleotide and 1st order Markov model (DM), frequency difference distance measure (FDDM), paired-nucleotide frequency difference between true and false sites (FDTF), 1st order Markov model (MM1), combination of both 1st and 2nd order Markov model (MM1 + MM2) and 2nd order Markov model (MM2) in respect of predicting donor and acceptor splice sites using 5 supervised learning methods (ANN, Bagging, Boosting, RF and SVM)...
April 19, 2019: Gene
Hui Song, Juan Sun, Guofeng Yang
Arachis species produce flowers aerially, and then grow into the ground, where they develop into fruits; a feature that is unique to Arachis species. We hypothesized that Arachis species evolved genes specifically involved in the control of aerial flowers and the formation of underground fruits. Arachis duranensis is more resistant to biotic and abiotic stressors. Here, we compared different legume species and identified Arachis duranensis-specific genes. We analyzed gene expression patterns, base substitution patterns and sequence features between genes that are conserved across legume plants and A...
April 19, 2019: Gene
Sorokhaibam Malvika, Prabal Rajan Ghosh, Bishal Dhar, N Neelima Devi, Rajesh Paul, Amit Halder, Ananya Mazumder, Yashmin Choudhury, Sankar Kumar Ghosh
The global biodiversity of domesticated red jungle fowl (Gallus gallus) is gradually eroding by replacement with commercial poultry breeds and results loss of valuable genetic and physical traits like resistance to disease, extreme environment, etc. posing a threat to the poultry genetic resources. Very fewer reports exist on Indian poultry diversity, especially native chicken of India. Therefore, species identification and inventorying of the poultry genetic resource is indispensable. Thus, the present study aimed to characterize indigenous chicken from bio-diversity hotspot of Sunderban and Northeast India using DNA sequence based barcoding approach...
April 19, 2019: Gene
Praveen Kumar K S, Madhuri Arcot, Munikrishna Munisamaiah, Sharath Balakrishna
OBJECTIVES: Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evaluated the association of SNP rs479200 (T>C) with the risk of preeclampsia. METHODS: This case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method...
April 19, 2019: Gene
Dipta Sengupta, Moonmoon Deb, Swayamsiddha Kar, Sabnam Parbin, Nibedita Pradhan, Samir Kumar Patra
Mixed-lineage leukaemia 1 (MLL1) enzyme plays major role in regulating genes associated with vertebrate development. Cell physiology and homeostasis is regulated by microRNAs in diverse microenvironment. In this investigation we have identified conserved miR-193a target sites within the 3'-UTR of MLL1 gene transcript. Utilizing wild type and mutated 3'-UTR constructs and luciferase reporter assays we have clearly demonstrated that miR-193a directly targets the 3'-UTR region of the MLL1 mRNA. Ectopic expression of miR-193a modulated global H3K4 mono-, di- and tri-methylation levels and affects the expression of CAV1, a gene which is specifically modulated by H3K4me3...
April 18, 2019: Gene
Houda Kaanane, Hicham El Attar, Amal Louahabbi, Hind Berradi, Hind Hassani Idrissi, Meriem Khyatti, Sellama Nadifi
The study of EGFR gene mutational profile in NSCLC patients has a special clinical significance in the selection of patients for tyrosine-kinase inhibitors therapy. From 2017, the targeted therapy started to be accessible in public sector in Morocco, thus, the implementation of techniques for the molecular characterization of EGFR mutations in the laboratories became a necessity. The aim of this study was to present targeted methods "ADx-ARMS technology and the Idylla™ system" for the identification of EGFR mutational profile, methods that can be implemented in our clinical laboratories for routine analysis instead of outsourcing analysis to other countries...
April 17, 2019: Gene
Mozhdeh Zamani, Seyed Vahid Hosseini, Hamid Behrouj, Mehran Erfani, Sanaz Dastghaib, Mojtaba Ahmadi, Seyedeh Azra Shamsdin, Pooneh Mokarram
Obesity is a major public health concern worldwide. Genetic, behavioral, and environmental factors contribute to the multifactorial etiology of obesity. Evidence suggests an association between human Brain-Derived Neurotrophic Factor (BDNF) Val66Met single nucleotide polymorphism (SNP) and obesity. Reduced plasma BDNF levels have also been reported in patients with eating disorders and obesity. We aimed to evaluate the BDNF Val66Met (rs6265) SNP and also plasma BDNF levels in morbidly obese patients compared with healthy normal controls in southern Iran...
April 17, 2019: Gene
Lingshu Han, Jun Ding, Heng Wang, Rantao Zuo, Zijiao Quan, Zihan Fan, Quandi Liu, Yaqing Chang
Fatty acid desaturases (Fads) are a key enzyme in the process of biosynthesis of highly unsaturated fatty acids (HUFAs). In this study, we cloned the full-length sequence of the SiFad1 gene (SiFad1) and analyzed its expression profiles during different developmental stages and in different tissues of Strongylocentrotus intermedius. The full-length cDNA of SiFad1 is composed of 1086 bp, with a putative open reading frame of 885 bp encoding a polypeptide of 294 amino acid (AA) residues. The predicted molecular mass of SiFad1 is 34...
April 17, 2019: Gene
Qi Zhang, Zujie Mao, Juan Sun
BACKGROUND: Chronic inflammatory microenvironment has been shown to play a key role in initiating tumorigenesis and facilitating malignant progression. Primary tumors surrounded with and infiltrated by tumor-associated macrophages (TAMs) significantly promote the epithelial-to-mesenchymal transition (EMT) and distant metastasis in urothelial bladder cancer. METHODS: In this study, we aimed to explore the potential of targeting TAMs for the treatment of malignant bladder cancer...
April 16, 2019: Gene
Natalia de Souza Araujo, Maria Cristina Arias
The stingless bee Melipona bicolor is the only bee in which true polygyny occurs. Its mitochondrial genome was first sequenced in 2008, but it was incomplete and no information about its transcription was known. We combined short and long reads of M. bicolor DNA with RNASeq data to obtain insights about mitochondrial evolution and gene expression in bees. The complete genome has 15,001 bp, including a control region of 255 bp that contains all conserved structures described in honeybees with the highest AT content reported so far for bees (98...
April 16, 2019: Gene
Guoli Wu, Mimi Niu, Jian Qin, Yafei Wang, Jing Tian
Previous studies report the upregulation of the secretory Rab27B small GTPase in human breast cancer, which could promote invasive growth and metastasis in estrogen receptor (ER)-positive breast cancer cells. However, there is limited evidence for its role in ER-negative breast cancer, along with the signaling pathways. Consistent with previous studies, we here confirmed that Rab27B is upregulated in breast tumor tissue in comparison with normal breast tissue. In addition, in ER-negative breast cancer cell line MDA-MB-231, when the levels of Rab27B expression were further elevated by transduction with recombinant lentivirus vector, migration and invasion assays demonstrated that cell migration and invasion was significantly stimulated...
April 16, 2019: Gene
Xu Zeng, Hong Ling, Xiaomei Chen, Shunxing Guo
BACKGROUND: In recent years, the molecular mechanism of plant growth and development has been reported in detail. GRAS genes, a plant-specific family of transcription factor, play critical roles in the process. GRAS transcription factors are associated with axillary shoot meristem formation, radial root patterning, phytohormones (gibberellins) signal transduction, light signaling, and abiotic or biotic stress. OBJECTIVE: Here, we firstly investigated GRAS gene family in Dendrobium catenatum, an important medicinal and flowering orchid in China...
April 15, 2019: Gene
Shruti Patil, Umesh T Sankpal, Myrna Hurtado, W Paul Bowman, Jeffrey Murray, Kathleen Borgmann, Anuja Ghorpade, Robert Sutphin, Don Eslin, Riyaz Basha
Medulloblastoma (MB) is characterized by highly invasive embryonal neuro-epithelial tumors that metastasize via cerebrospinal fluid. MB is difficult to treat and the chemotherapy is associated with significant toxicities and potential long-term disabilities. Previously, we showed that small molecule, clotam (tolfenamic acid: TA) inhibited MB cell proliferation and tumor growth in mice by targeting, survivin. Overexpression of survivin is associated with aggressiveness and poor prognosis in several cancers, including MB...
April 13, 2019: Gene
Yongrui He, Ruirui Jia, Jingjing Qi, Shanchun Chen, Tiangang Lei, Lanzhen Xu, Aihong Peng, Lixiao Yao, Qin Long, Zhengguo Li, Qiang Li
Genetic engineering approaches offer an alternative method to the citrus canker resistance breeding. The ethylene response factor (ERF) family is a member of families of transcription factors that are particular to plants and contribute significantly to biotic stress response and to plant growth. CsAP2-09 belongs to the citrus AP2/ERF transcription factor family. Initially, we proved the induction of CsAP2-09 in wild-types by Xcc and some hormones involved in pathogen response. We successfully cloned the CsAP2-09 and proved that CsAP2-09 protein is targeted to the nucleus...
April 13, 2019: Gene
Byeonghyeon Lee, Deok-Gyun Choi, Bo-Young Chun, Eun Hye Oh, Un-Kyung Kim, Yun-Jeong Lee, Jin-Sung Park
Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases...
April 12, 2019: Gene
Jyoti Mishra, Seerat Talwar, Lovejeet Kaur, Ketaki Chandiok, Suniti Yadav, Manju Puri, M P Sachdeva, R Lakshmy, K N Saraswathy
AIM: The purpose of the present study is to evaluate and understand the association of global and MTHFR gene specific methylation in preeclampsia and recurrent miscarriages in light of MTHFR C677T polymorphism. METHODS: The subjects comprised of recurrent miscarriage cases, their gestation matched controls, preeclampsia cases and matched controls. A set of women at full term were also recruited. Fasting blood sample (~5 ml) was drawn from all the participants followed by DNA extraction, global DNA methylation and MTHFR gene specific methylation...
April 12, 2019: Gene
Iglika Yordanova, Zornitza Pavlova, Andrey Kirov, Tihomir Todorov, Assen Alexiev, Stayko Sarafov, Lyudmila Mateva, Teodora Chamova, Mariana Gospodinova, Vanyo Mitev, Ivailo Tournev, Albena Todorova
TTR-related amyloidosis (ATTR) is manifested in two allelic forms: familial amyloid polyneuropathy (TTR-FAP) and cardiomyopathy (TTRFAC), both caused by mutations in the TTR gene. The most prevalent mutation in Bulgaria is p.Glu89Gln. Markedly different age at onset and disease penetrance is noticed in Bulgarian p.Glu89Gln cases even in a single family or between genetically identical twins. The present study aimed to evaluate the transcription profile of the TTR gene in order to better understand the difference in disease onset and penetrance...
April 11, 2019: Gene
Giang Thi Hien Nham, Xiang Zhang, Yoshinori Asou, Tamayuki Shinomura
To maintain normal function of cartilage tissue normally, the presence of a sufficient amount of type II collagen and aggrecan is essential, and their synthesis is tightly regulated. Therefore, understanding the mechanisms that control the expression of type II collagen and aggrecan would be useful for understanding gene expression changes in diseases such as osteoarthritis. Recently, we have identified two pairs of enhancer elements, termed E1 and E2 in the type II collagen gene and Ea and Eb in the aggrecan gene...
April 11, 2019: Gene
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