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Identification and analysis of low light tolerant rice genotypes in field conditions and their SSR-based diversity in various abiotic stress tolerant lines J. Genet. (IF 0.993) Pub Date : 2020-12-09 Sebantee Ganguly, Shoumik Saha, Sathish Vangaru, Shampa Purkayastha, Dibakar Das, Arup K. Saha, Anirban Roy, Subhadeep Das, Prabir K. Bhattacharyya, Subhra Mukherjee, Somnath Bhattacharyya
The yield potentiality of kharif rice is not completely used even under well-irrigated agro-ecosystem, mainly due to low irradiance by overcast cloud throughout the growing season in eastern India. We observed more than 50% yield reduction compared to the performance of 100 high-yield genotypes for consecutive three years both under open and 30–35% reduced light intensity, mainly by 34%, 25% and 12%
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Genetic analysis of maydis leaf blight resistance in subtropical maize ( Zea mays L.) germplasm J. Genet. (IF 0.993) Pub Date : 2020-11-24 B. Jeevan, Robin Gogoi, Devender Sharma, C. Manjunatha, H. Rajashekara, Dama Ram, K. K. Mishra, M. G. Mallikarjuna
Knowledge on the genetics of maydis leaf blight (MLB) is crucial to breed the resistant maize cultivars to combat disease epidemics as a sustainable and cost-effective approach. The present investigation was framed to understand the genetics of MLB resistance in subtropical maize. Two contrasting genotypes CM119 (susceptible) and SC-7-2-1-2-6-1 (resistant) were used to generate six genetic populations
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Characterizing miRNA and mse-tsRNA in fertile and subfertile yak bull spermatozoa from Arunachal Pradesh J. Genet. (IF 0.993) Pub Date : 2020-11-24 PARTHA PRATIM DAS, SAFEEDA SULTANA BEGUM, MANASEE CHOUDHURY, DINAMANI MEDHI, VIJAY PAUL, PRANAB JYOTI DAS
Male fertility in farm animals is considered as an important economic trait. The phenomenon of spermatogenesis plays a dynamic functional role in determining the viability of sperm and thereby can impact on fertility-driven complications. The process of spermatogenesis is controlled by numerous molecular factors and requires a precisely regulated pattern of gene expression. The role of small noncoding
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Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene J. Genet. (IF 0.993) Pub Date : 2020-11-18 Stephane Allouche
The phospholipase A2 group VI (PLA2G6) gene encodes for a Ca2+-independent PLA2, which is localized in the cytosol, in the endoplasmic reticulum and in the mitochondrial membrane, plays a major role in phospholipid remodelling. Mutations within this gene have been reported to cause different phenotypes: infantile-onset neuroaxonal dystrophy associated with brain iron accumulation and adult-onset parkinsonian
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Study on the SFRP4 gene polymorphism and expression in prostate cancer J. Genet. (IF 0.993) Pub Date : 2020-11-18 AISHWARYA NATARAJAN, SHAILE SUDHA BANDLA, MOHAN DAMODARAN, SANDHYA SUNDARAM, VETTRISELVI VENKATESAN
Prostate cancer is a heterogeneous disease and considered to be the most commonly diagnosed cancer. SFRP4 gene acts as Wnt antagonist in the Wnt signalling pathway, thereby playing an important role in carcinogenesis. The aim of the present study was to investigate two single-nucleotide polymorphisms: c.958 C>A (rs1802073) and c.1019 G>A (rs1802074) in the SFRP4 gene and its expression in prostate
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Plastid genomes of Elaeagnus mollis : comparative and phylogenetic analyses J. Genet. (IF 0.993) Pub Date : 2020-11-11 Yongqin Cheng, Yanci Yang, Xuening Fu, Li Liu, Zaimin Jiang, Jing Cai
Plastomes, which are maternally inherited and show a moderate rate of evolution, play a critical role in phylogenetic reconstruction and assignment of plant species. However, little is known about the sequence divergence and molecular evolutionary patterns of plastid genomes in Elaeagnus mollis, a plant of great economic, medicinal, edible and ecological values. The plastid genome of E. mollis is 152
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Genetic characterization of maize doubled haploid lines for Fusarium stalk rot caused by Fusarium verticillioides J. Genet. (IF 0.993) Pub Date : 2020-11-05 B. M. Showkath Babu, H. C. Lohithaswa, N. Mallikarjuna, Anand Pandravada, D. C. Balasundara
Fusarium stalk rot disease (FSR) of maize caused by Fusarium verticillioides (Sacc.) Nirenberg is becoming an important biotic production constraint in many of the major maize growing areas causing substantial yield losses. Inbreds are preferred as parents in hybrid development owing to homozygous nature and high heterotic ability. Double haploid (DH) technology has emerged as a significant milestone
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Inheritance pattern of okra enation leaf curl disease among cultivated species and its relationship with biochemical parameters J. Genet. (IF 0.993) Pub Date : 2020-11-05 Yogendra Yadav, Praveen Kumar Maurya, Tridip Bhattacharjee, Swadesh Banerjee, Subrata Dutta, Asit Kumar Mandal, Arup Chattopadhyay, Pranab Hazra
Okra production in eastern India at present is severely threatened by whitefly-mediated okra enation leaf curl disease (OELCuD). Identification of resistant genotype and understanding the genetic control and biochemical relationship of OELCuD resistance are prerequisite for developing an effective breeding strategy. This study was conducted employing six populations (P1, P2, F1, F2, BC1 and BC2) of
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First detection of chromosomal inversions in a natural population of the invasive pest species Drosophila suzukii J. Genet. (IF 0.993) Pub Date : 2020-10-30 Carla Esteve, Clàudia Lagares, Francesc Mestres
Drosophila suzukii is native to East and Southeast Asia and spread very fast around the world being considered an invasive pest species. Many demographic, population genetics and genomic studies have been recently developed, but so far no analysis has been carried out regarding the presence of chromosomal inversions in D. suzukii natural populations. In this research, we studied polytene chromosomes
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QTL identification for downy mildew resistance in cucumber using genetic linkage map based on SSR markers J. Genet. (IF 0.993) Pub Date : 2020-10-30 PAWINEE INNARK, HADSAYA PANYANITIKOON, CHANULAK KHANOBDEE, SOMPID SAMIPAK, CHATCHAWAN JANTASURIYARAT
Fourteen cucumber lines were tested for genetic homozygosity and performed pairwise comparison to identify a pair with the highest DNA polymorphic level. Cucumber accessions CSL0067 and CSL0139 were selected to generate 315 F2 populations. The genetic linkage map based on 66 polymorphic SSR markers was constructed. It composed of eight linkage groups (LGs) spanning 474.4 cM. Downy mildew disease reaction
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Age-related gene expression alterations by SARS-CoV-2 infection contribute to poor prognosis in elderly J. Genet. (IF 0.993) Pub Date : 2020-10-24 UPASANA BHATTACHARYYA, B. K. THELMA
The ongoing pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has affected millions of people worldwide and with notable heterogeneity in its clinical presentation. Probability of contracting this highly contagious infection is similar across age groups but disease severity and fatality among aged patients with or without comorbidities are reportedly higher. Previous studies
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Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent J. Genet. (IF 0.993) Pub Date : 2020-10-21 Payal Kamdar, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Beena Koshy, Samuel Philip Oommen, Rekha Aaron, Anitha Barney, Suneetha Susan C. Abraham, Sumita Danda
Rett syndrome (RTT) is an X-linked disorder caused by mutations in MECP2 in majority of cases. It is characterized by arrested development between 6 and 18 months of age, regression of acquired hand skills and speech, stereotypic hand movements, gait abnormalities and seizures. There are a very few studies in India which illustrates mutation spectrum in RTT. None of the studies have correlated seizures
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Comprehensive analysis of ALK , ROS1 and RET rearrangements in locally advanced rectal cancer J. Genet. (IF 0.993) Pub Date : 2020-10-17 Chunlian Zhou, Min Li, Zhiwei Guo, Kun Li, Xiangming Zhai, Yingchao Xie, Xuexi Yang, Yingsong Wu, Weiwei Xiao, Weiwen Xu
Gene rearrangements, such as anaplastic lymphoma kinase (ALK), c-ros oncogene 1 receptor tyrosine kinase (ROS1), rearranged during transfection (RET) and neurotrophic receptor tyrosine kinase 1 (NTRK1), identified in cancer have been indicated to be robust therapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery of novel gene
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De novo transcriptome assembly and mining of EST-SSR markers in Gloriosa superba J. Genet. (IF 0.993) Pub Date : 2020-10-09 Moumita Das, Soumya Prakash Sahu, Archana Tiwari
Gloriosa superba is an economical source of pharmaceutical colchicine, which is a mitotic poison used to treat gout, cancer and inflammatory diseases. It is important to study the genetic variations in this plant, but the progress is impeded due to limited number of molecular markers. In this study, we developed the expressed sequence tag-derived simple sequence repeat (EST-SSR) markers from the transcriptome
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Karyomorphology in two species of the genus Phlogacanthus Nees of Assam: some new karyological insights J. Genet. (IF 0.993) Pub Date : 2020-10-07 Neetumalata Boro, Bandana Nabis Das
The genus Phlogacanthus Nees belongs to the family Acanthaceae and is represented by herbs or shrubs species. The present work shows detailed karyomorphological studies in two species, Phlogacanthus quadrangularis (Hook.) Heine and Phlogacanthus guttatus Nees. Both the species grow as undergrowth vegetation. The conservation status of both the species are yet to be determined. The somatic chromosome
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The use of a genetic relationship matrix biases the best linear unbiased prediction J. Genet. (IF 0.993) Pub Date : 2020-10-07 Bongsong Kim
The best linear unbiased prediction (BLUP), derived from the linear mixed model (LMM), has been popularly used to estimate animal and plant breeding values (BVs) for a few decades. Conventional BLUP has a constraint that BVs are estimated from the assumed covariance among unknown BVs, namely conventional BLUP assumes that its covariance matrix is a \( \lambda K \), in which \( \lambda \) is a coefficient
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Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India J. Genet. (IF 0.993) Pub Date : 2020-09-28 MURUGESAN KALAIMATHI, MAHALINGAM SUBATHRA, JUSTIN MARGRET JEFFREY, MATHIYALAGAN SELVAKUMARI, JAYASANKARAN CHANDRU, NARASIMHAN SHARANYA, VANNIYA S. PARIDHY, C. R. SRIKUMARI SRISAILAPATHY
The broad spectrum of causal variants in the newly discovered GIPC3 gene is well reflected in worldwide studies. Except for one missense variant, none of the reported variants had reoccurred, thus reflecting the intragenic heterogeneity. We screened all the six coding exons of GIPC3 gene in a large cohort of 177 unrelated prelingual hearing impaired after excluding the common GJB2, GJB6 nuclear and
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Genetic analysis of some morphological traits in synthetic $$\times $$ × naturally polyploid cotton derivatives J. Genet. (IF 0.993) Pub Date : 2020-09-22 Suruchi Vij, Dharminder Pathak, Pankaj Rathore, Pooja Nikhanj
Cotton has received attention of geneticists since more than a century. Gossypium hirsutum, the predominantly cultivated cotton species worldwide, has a narrow genetic base. It is important to broaden its genetic base through introgression of novel alleles from related species. Here, we report the development and characterization of a backcross population derived from the hybridization of a ‘synthetic’
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A de novo marker chromosome 15 in a child with isolated developmental delay J. Genet. (IF 0.993) Pub Date : 2020-09-12 Madhavan Jeevan Kumar, Kalpana Gowrishankar, Venkatasubramanian Hemagowri, Jayarama Kadandale
We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization
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Analysis of indigenous plasmid sequences of A. baumannii DS002 reveals the existence of lateral mobility and extensive genetic recombination among Acinetobacter plasmids J. Genet. (IF 0.993) Pub Date : 2020-09-09 Devyani Samantarrai, Harshita Yakkala, Dayananda Siddavattam
Genome sequence of Acinetobacter baumannii DS002 revealed the existence of seven contigs with features of indigenous plasmids. Of the seven contigs, three of them have shown size and sequence identity. They appeared to have been generated due to the unique recombination events leading to a large-scale recombination and sequence inversions. The rest of the indigenous plasmids have shown significant
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Population structure and diversity assessment of barley ( Hordeum vulgare L.) introduction from ICARDA J. Genet. (IF 0.993) Pub Date : 2020-08-20 Pawan Kumar, Prabha Banjarey, Rekha Malik, A. N. Tikle, R. P. S. Verma
This study was undertaken to measure the genetic diversity and population structure of 48 barley accessions introduced from ICARDA using 51 polymorphic simple sequence repeat (SSR) markers to select unique parents for breeding. The mean polymorphic information content was 0.491, suggesting high polymorphism for the selected SSR markers among the barley accessions. The population structure indicated
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Characterization of bZIP transcription factors from Dimocarpus longan Lour. and analysis of their tissue-specific expression patterns and response to heat stress J. Genet. (IF 0.993) Pub Date : 2020-08-16 Wei Zheng, Tongtong Xie, Xuefei Yu, Ning Chen, Ziwei Zhang
Members of the bZIP transcription factor family play crucial roles in the regulation of plant development, biosynthesis of secondary metabolites, and response to abiotic and biotic stresses. To date, multiple bZIPs have been identified and investigated in numerous plant species. However, few studies have characterized bZIPs from Dimocarpus longan Lour. In this study, nine bZIPs from D. longan were
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DNA barcoding supports existence of morphospecies complex in endemic bamboo genus Ochlandra Thwaites of the Western Ghats, India J. Genet. (IF 0.993) Pub Date : 2020-08-13 K. Sijimol, Suma Arun Dev, V. B. Sreekumar
Ochlandra Thwaites, an economically exploited bamboo genus of the Western Ghats of India is severely affected by unsustainable extraction, natural habitat destruction and endangerment of species resources. This taxonomically challenging genus consists of a genetic mixture of 10 related polyploid species that are difficult to define and classify using traditional morphology. The present study investigated
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Sequencing and characterization of complete mitogenome DNA of Rasbora tornieri (Cypriniformes: Cyprinidae: Rasbora) and its evolutionary significance J. Genet. (IF 0.993) Pub Date : 2020-08-06 Hung Hui Chung, Cynthia Keranti Anak Kamar, Leonard Whye Kit Lim, Jill Sela Roja, Yunshi Liao, Tommy Tsan-Yuk Lam, Yee Ling Chong
The yellowtail rasbora (Rasbora tornieri) is a miniature ray-finned fish categorized under the genus Rasbora in the family of Cyprinidae. In this study, a complete mitogenome sequence of R. tornieri was sequenced using four primers targeting two halves of the mitogenome with overlapping flanking regions. The size of mitogenome was 16,573 bp, housing 22 transfer RNA genes, 13 protein-coding genes, two
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A high number of ‘natural’ mitochondrial DNA polymorphisms in a symptomatic Brugada syndrome type 1 patient J. Genet. (IF 0.993) Pub Date : 2020-08-04 Emanuela Polidori, Laura Stocchi, Domenico Potenza, Luigi Cucchiarini, Vilberto Stocchi, Lucia Potenza
Brugada syndrome (BrS) is a rare genetic arrhythmic disorder with a complex model of transmission. At least 20 different genes have been identified as BrS-causal or susceptibility genes. Of these, SCN5A is the most frequently mutated. Coregulation of different mutations or genetic variants, including mitochondrial DNA (mtDNA), may contribute to the clinical phenotype of the disease. In the present
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Conservation of gene architecture and domains amidst sequence divergence in the hsrω lncRNA gene across the Drosophila genus: an in silico analysis J. Genet. (IF 0.993) Pub Date : 2020-07-21 Ranjan Kumar Sahu, Eshita Mutt, Subhash Chandra Lakhotia
The developmentally active and cell-stress responsive hsrω locus in Drosophila melanogaster carries two exons, one omega intron, one short translatable open reading frame (ORFω), long stretch of unique tandem repeats and an overlapping mir-4951 near its 3′ end. It produces multiple long noncoding RNAs (lncRNAs) using two transcription start and four termination sites. Earlier cytogenetic studies revealed
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Towards a more healthy conservation paradigm: integrating disease and molecular ecology to aid biological conservation † J. Genet. (IF 0.993) Pub Date : 2020-07-21 Pooja Gupta, V. V. Robin, Guha Dharmarajan
Parasites, and the diseases they cause, are important from an ecological and evolutionary perspective because they can negatively affect host fitness and can regulate host populations. Consequently, conservation biology has long recognized the vital role that parasites can play in the process of species endangerment and recovery. However, we are only beginning to understand how deeply parasites are
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Prevalence of UGT1A1 (TA) n promoter polymorphism in Panamanians neonates with G6PD deficiency J. Genet. (IF 0.993) Pub Date : 2020-07-16 TERESA CHÁVEZ-PEÑA, ALEJANDRA MARTÍNEZ-CAMBEROS, GLADYS COSSIO-GURROLA, ELIAKYM ARÁMBULA-MERAZ, INDIRA HERRERA-RODRÍGUEZ, ENRIQUE ROMO-MARTÍNEZ, NOEMI GARCÍA-MAGALLANES
A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may cause pronounced hyperbilirubinaemias. The
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Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis J. Genet. (IF 0.993) Pub Date : 2020-07-16 Yike Huang, Chenhui Zhang, Lu Tao, Jiaqing Zhou, Jie Zhu, Kexiang Yan, Ling Han, Qiong Huang, Jinxiu Shi, Zhenghua Zhang
Psoriasis-2 (PSORS2) is caused by the heterozygous mutation of the caspase recruitment domain 14 (CARD14) gene on chromosome 17q25. To evaluate the contribution of CARD14 variants in psoriasis of the Chinese Han population, we performed deep sequencing of the CARD14 gene in 372 Chinese Han patients with psoriasis. The exonic nucleotide variants were confirmed by Sanger sequencing in the affected individuals
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Linkage disequilibrium and haplotypes of five TP53 polymorphisms in oesophageal cancer patients J. Genet. (IF 0.993) Pub Date : 2020-07-16 Vasudha Sambyal, Sukhpreet Kaur, Mridu Manjari, Manjit Singh Uppal, Neeti Rajan Singh, Meena Sudan, Kamlesh Guleria
The aim of present study was to evaluate the linkage disequilibrium (LD) of p.R72P, PIN3 Ins16bp, p.P47S, p.R213R and r.13494g>a polymorphism of TP53 and their haplotypes association with oesophageal cancer risk in patients from Punjab, northwest India. A total of 466 samples, including 233 oesophageal cancer patients and 233 healthy individuals were analysed. Data analysis revealed the gender specific
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Elucidation of genotype–environment interactions and genetic stability parameters for yield, quality and agromorphological traits in ashwagandha ( Withania somnifera (L.) Dunal) J. Genet. (IF 0.993) Pub Date : 2020-07-02 MITHLESH KUMAR, MANUBHAI PATEL, RAVINDRASINGH CHAUHAN, CHANDRESH TANK, SATYANARAYAN SOLANKI, PRAVINBHAI PATEL, HITENDRA BHADAURIA, RAMAN GAMI, KAREN PACHCHIGAR, NISHIT SONI, PRANAY PATEL, ANUJ SINGH, NITIN PATEL, RAMESH PATEL
The present study was undertaken to delineate genotype–environment interactions and stability status of 16 genotypes of ashwagandha (Withania somnifera (L.) Dunal) in context to the 12 characters, namely plant height, number of primary branches, number of secondary branches, days to flowering, days to maturity, number of berries, number of seeds/berry, root length, root diameter, root branches, dry
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Evaluation of Drosophila chromosomal segments proposed by means of simulations of possessing hybrid sterility genes from reproductive isolation J. Genet. (IF 0.993) Pub Date : 2020-07-02 Francisco García-Franco, Lilian Milena Barandica-Cañon, Jannitza Arandia-Barrios, Ezel Jacome Galindo-Pérez, Gilberto Sven Binnqüist Cervantes, Martha Martínez García, Blanca Estela Chávez-Sandoval
In heterozygote state, we interogressed three chromosomal segments of Drosophila koepferae in D. buzzatii. The effect of each introgression was evaluated in the fertility of the segmental males, quantifying the amount of offspring produced. Through specific crosses method, we generated Drosophila segmental isolines carrying specific chromosomal introgression segments. The introgressions were monitored
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Genomewide analysis of microsatellite markers based on sequenced database in two anuran species J. Genet. (IF 0.993) Pub Date : 2020-06-30 LI WEI, WEIWEI SHAO, LI MA, ZHIHUA LIN
Eukaryotic and prokaryotic cell genomes exhibit multiple microsatellites. In this study, we characterized microsatellites in genomes and genes of Nanorana parkeri and Xenopus laevis. This characterization was used for gene ontology (GO) analysis of coding sequences (CDS). Compared to the genome of N. parkeri, the genome of X. laevis is larger and contains more number of microsatellites, but the diversity
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Genetic control of reproductive and fruit quality traits in crosses involving cultivars and induced mutants of tomato ( Solanum lycopersicum L.) J. Genet. (IF 0.993) Pub Date : 2020-06-19 Ipsita Das, Pranab Hazra, Mrinalini Longjam, Tridip Bhattacharjee, Praveen Kumar Maurya, Swadesh Banerjee, Arup Chattopadhyay
Development of mutants and their effective utilization to incorporate desirable traits in tomato would be a sound improvement strategy to develop so called ‘smart’ tomato variety of the coming century. Initially we developed three induced mutants from two varieties, ‘Patharkuchi’, a local adapted cultivar and an introduced variety ‘Berika’, and then three crosses (Berika × P Mut-5, Berika × P Mut-11
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Genetic dissection of yield associated traits in a cross between cowpea and yard-long bean ( Vigna unguiculata (L.) Walp.) based on DArT markers J. Genet. (IF 0.993) Pub Date : 2020-06-19 Ana Luísa Garcia-Oliveira, Zewdneh Zana Zate, Bunmi Olasanmi, Ousmane Boukar, Melaku Gedil, Christian Fatokun
Both cowpea and yard-long bean belong to Vigna unguiculata ssp. unguiculata but have diverged through human induced evolution in sub-Saharan Africa and Asia, respectively. To map the quantitative trait loci (QTLs) for yield associated traits and derive new lines that may combine the attributes of both types, we developed a F2:3 mapping population derived from a cross between cowpea line TVu2185 and
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A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome J. Genet. (IF 0.993) Pub Date : 2020-06-15 A. Khoshaeen, M. Najafi, M. R. Mahdavi, H. Jalali, M. Mahdavi
The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a
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Assessment of risk conferred by coding and regulatory variations of TMPRSS2 and CD26 in susceptibility to SARS-CoV-2 infection in human J. Genet. (IF 0.993) Pub Date : 2020-06-09 Sabyasachi Senapati, Shashank Kumar, Atul K. Singh, Pratibha Banerjee, Sandilya Bhagavatula
At present, more than 200 countries and territories are directly affected by the coronavirus disease-19 (COVID-19) pandemic. Incidence and case fatality rate are significantly higher among elderly individuals (age > 60 years), type 2 diabetes and hypertension patients. Cellular receptor ACE2, serine protease TMPRSS2 and exopeptidase CD26 (also known as DPP4) are the three membrane bound proteins potentially
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SNP of AHSA2 gene in three cattle breeds using snapshot technology J. Genet. (IF 0.993) Pub Date : 2020-06-09 Shu-Zhu Cheng, E. Guang-Xin, Cheng-Li Liu, Wang-Dui Basang, Yan-Bin Zhu, Ri-Su Na, Yan-Guo Han, Yan Zeng, Xiao Wang, Wei-Wei Ni, Bai-Gao Yang, Xing-Hai Duan, Ze-Hui Guo, Meihua Song, Yong-Fu Huang
Droughtmaster is a tropical breed of beef cattle that can survive in hot climates and easily adapt to torrid environments. These traits are important in livestock breeding. In this study, we genotyped five single-nucleotide polymorphisms (SNPs) of the AHSA2 gene from 190 cattle belonging to three different breeds (Droughtmaster, Angus and Simmental) by using snapshot technology. This work aimed to
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Molecular profiling of blast resistance genes and evaluation of leaf and neck blast disease reaction in rice J. Genet. (IF 0.993) Pub Date : 2020-06-04 Haniyambadi B. Manojkumar, Chikkaballi A. Deepak, Kodihally M. Harinikumar, M. P. Rajanna, Belthur Chethana
In the present investigation, phenotypic evaluation of blast disease reaction was conducted at Ponnampet and Mandya districts of Karnataka, India, which indicated that the rice varieties such as IR64, Jaya, KMP153, IR30864, Mandya Sona-1, Mandya Sona-2, KCP-1, Dodda Byra, and Malgudi Sanna were susceptible to both leaf and neck blasts. Further, the rice varieties that were resistant to leaf blast such
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Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith‒Magenis syndrome and external genital defects J. Genet. (IF 0.993) Pub Date : 2020-06-04 Pingping Zhang, Yanmei Sun, Haishen Tian, Limin Rong, Fangna Wang, Xiaoping Yu, Yali Li, Jian Gao
Smith‒Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may present polyhydramnios
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Promoter polymorphisms of the PCA3 gene are not associated with its overexpression in prostate cancer patients J. Genet. (IF 0.993) Pub Date : 2020-06-04 ELIAKYM ARÁMBULA-MERAZ, MARTÍN IRIGOYEN-ARREDONDO, DORA CEDANO-PRIETO, ENRIQUE ROMO-MARTÍNEZ, FRED LUQUE-ORTEGA, VERÓNICA PICOS-CÁRDENAS, MARCO ALVAREZ-ARRAZOLA, NOEMÍ GARCÍA-MAGALLANES
In male, the prostate cancer (PCa) is one of the most frequent neoplasias and the second cause of cancer deaths worldwide. In 2015, more than 6000 men died in Mexico due to this disease. In this regard, prostate cancer associated gene 3 (PCA3) has become an interesting target in PCa as is found highly overexpressed. Moreover, TAAA tandem repeats have been suggested to be associated with the regulation
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Genomic data mining reveals the transaminase repertoire of Komagataella phaffii ( Pichia pastoris ) strain GS115 and supports a systematic nomenclature J. Genet. (IF 0.993) Pub Date : 2020-06-03 Maria-José Henríquez, Rosalía Paula Cardós-Elena, Darren Nicholas Nesbeth
Transaminases are an industrially important class of enzyme, due to their ability to catalyse amination reactions for production of chiral amines, and are key building blocks of small molecule pharmaceuticals. We analysed the genome of strain GS115 of the methylotrophic yeast Komagataella phaffii, formerly known as Pichia pastoris, to identify the transaminase genes and propose a systematic nomenclature
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Genetic association between HOTAIR gene and the risk of cancer: an updated meta-analysis J. Genet. (IF 0.993) Pub Date : 2020-06-02 Abdolkarim Moazeni-Roodi, Sajjad Aftabi, Sahel Sarabandi, Shima Karami, Mohammad Hashemi, Saeid Ghavami
Several recent investigations show that HOX transcript antisense intergenic RNA (HOTAIR) play an important role in the pathogenesis of different cancers. HOTAIR polymorphisms has been widely studied in the context of association between with the risk of cancer pathogenesis. However, there is no certain conclusion about the role of HOTAIR polymorphisms in different cancer initiation and progression
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Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder J. Genet. (IF 0.993) Pub Date : 2020-05-30 Andrea Accogli, G. Eric Jarvis, Alessandra Schiavetto, Laurence Lai, Evangelia L. Amirali, Daniel Alexander Jimenez Cruz, Jean-Baptiste Rivière, Yannis Trakadis
IQSEC2 is an X-linked gene highly expressed at the excitatory synapses where it plays a crucial role in α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking and synaptic plasticity. To date, several males and females with severe to profound intellectual disability have been reported harbouring frameshift and nonsense variants in this gene, whereas a milder phenotype has been recognized
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Dapagliflozin, a sodium glucose cotransporter 2 inhibitors, protects cardiovascular function in type-2 diabetic murine model J. Genet. (IF 0.993) Pub Date : 2020-05-29 Sohair Saleh, Gergess Hanna, Sobhy Hassab El-Nabi, Heba El-domiaty, Anwaar Shabaan, Suzy Fayez Ewida
Diabetes mellitus and its complications are major international health problems in which there are many limitations to the orthodox approaches in the treatment. Sodium glucose cotransporter 2 (SGLT2) inhibitors are a new class of diabetic medications, with a different mechanism of action that may reduce risk of cardiovascular complications. To evaluate the effect of SGLT2 inhibitor monotherapy on cardiovascular
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High nucleotide sequence variation of avirulent gene, AVR-Pita1 , in Thai rice blast fungus population J. Genet. (IF 0.993) Pub Date : 2020-05-27 Katanyutita Damchuay, Apinya Longya, Tanee Sriwongchai, Pattavipha Songkumarn, Nonglak Parinthawong, Kulchana Darwell, Sucheela Talumphai, Piyama Tasanasuwan, Chatchawan Jantasuriyarat
Rice blast disease, caused by Magnaporthe oryzae, is one of the most importance diseases of rice production worldwide. The key role of defense mechanism to combat this fungus in rice follows the gene-for-gene concept, which a plant resistant (R) gene product recognizes a fungal avirulent (AVR) effector and triggers the hypersensitive response. However, the AVR genes have been shown to be rapidly evolving
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Gene co-expression network analysis provides a novel insight into the dynamic response of wheat to powdery mildew stress J. Genet. (IF 0.993) Pub Date : 2020-05-20 Weiguo Hu, Qiaohui Wang, Siwen Wang, Mengmeng Wang, Changyou Wang, Zengrong Tian, Xinlun Liu, Wanquan Ji, Hong Zhang
Powdery mildew (Blumeria graminis f. sp. Tritici, (Bgt)) is an important worldwide fungal foliar disease of wheat (Triticum aestivum) responsible for severe yield losses. The development of resistance genes and dissection of the resistance mechanism will therefore be beneficial in wheat breeding. The Bgt resistance gene PmAS846 was transferred to the hexaploid wheat lines N9134 from Triticum dicoccoides
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Abnormally expressed lncRNAs in the prognosis and clinicopathology of oesophageal cancer: a systematic review and meta-analysis J. Genet. (IF 0.993) Pub Date : 2020-05-16 PENG QIAN, ZHIYIN XU, HUI CHEN, SUYANG YUE, YONGJIAN LV
The relationship between the long noncoding RNA (lncRNA) expression and oesophageal cancer prognosis has been widely studied, but less consensus has been reached. We conducted this study to evaluate the relationship between the expression of lncRNAs and the prognosis and clinical pathology of oesophageal cancer. We conducted a systematic search of PubMed, EMBASE and Cochrane Library until 25 January
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In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease J. Genet. (IF 0.993) Pub Date : 2020-05-15 Mohammad Ihsan Fazal, Rafal Kacprzyk, David J. Timson
Tay‒Sachs disease (TSD), a deficiency of β-hexosaminidase A (Hex A), is a rare but debilitating hereditary metabolic disorder. Symptoms include extensive neurodegeneration and often result in death in infancy. We report an in silico study of 42 Hex A variants associated with the disease. Variants were separated into three groups according to the age of onset: infantile (n=28), juvenile (n=9) and adult
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Male and female meiosis evince differential patterns in chiasma formation: a case study of ornamental plant, Delphinium ajacis L. J. Genet. (IF 0.993) Pub Date : 2020-05-14 K. K. Koul, Ranjna Nagpal, Kamal Nain
Chromosomal behaviour during megasporogenesis and microsporogenesis has been studied in ornamental Delphinium ajacis L. Meiosis in female sex cell initiates later than male. The floral buds which carry egg mother cell (EMC) at diplotene stage has pollen mother cells (PMCs) at tetrad stage of meiosis suggesting protandry. Although the 16 chromosomes formed regular eight bivalents in both the sex cells
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Molecular cloning and functional characterization of CmFT ( FLOWERING LOCUS T ) from Cucumis melo L. J. Genet. (IF 0.993) Pub Date : 2020-05-14 Huijun Zhang, Yan Zhang
CmFT homologous gene in muskmelon was obtained by homologous cloning, introducing CmFT gene by Agrobacterium-mediated transformation. The results of subcellular localization showed that CmFT protein was expressed in cytoplasm and nucleus. qRT-PCR results showed that the expression levels of AtLFY, AtFT, AtCO, AtFLC, AtSOC1 and AtAP1 were upregulated in the 35S::MeFTArabidopsis line. The CmFT gene was
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Developing ancestry informative marker panel for Nigeria-Cameroonian chimpanzees J. Genet. (IF 0.993) Pub Date : 2020-05-11 S. Anjana, Sai Pradivya Sammeta, Ranajit Das
Chimpanzees (Pan troglodytes), with a dwindling population size, are distributed across sub-Saharan Africa. They are classified into two biogeographical clusters comprising of four subspecies: a western African cluster that includes P. t. verus and P. t. ellioti and a central/eastern African cluster that includes P. t. troglodytes and P. t. schweinfurthii. While the genetic distinctness of Nigeria-Cameroonian
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Taxonomy and phylogenetic relationship of zokors J. Genet. (IF 0.993) Pub Date : 2020-04-30 Yao Zou, Miao Xu, Shien Ren, Nannan Liang, Chongxuan Han, Xiaoning Nan, Jianning Shi
Zokor (Myospalacinae) is one of the subterranean rodents, endemic to east Asia. Due to the convergent and parallel evolution induced by its special lifestyles, the controversies in morphological classification of zokor appeared at the level of family and genus. To resolve these controversies about taxonomy and phylogeny, the phylogenetic relationships of 20 species of Muroidea and six species of zokors
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First report on DNA content of three species of Amorphophallus J. Genet. (IF 0.993) Pub Date : 2020-04-25 CHUFENG ZHAO, NUNUNG HARIJATI, ERXI LIU, SURONG JIN, YING DIAO, ZHONGLI HU
The Amorphophallus genus is a perennial herb which belongs to the family Araceae. There are more than 170 species in this genus, which is widely distributed in tropical and subtropical areas. As a kind of food and medicine Amorphophallus has been used for more than 2000 years in China. Because of the high content of konjac glucomannan (KGM) and dietary fiber, it has attracted more attention worldwide
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Identification of drought stress-responsive genes in rice ( Oryza sativa ) by meta-analysis of microarray data J. Genet. (IF 0.993) Pub Date : 2020-04-22 Preeti Sirohi, Birendra S. Yadav, Shadma Afzal, Ashutosh Mani, Nand K. Singh
Meta-analysis provides a systematic access to the previously studied microarray datasets that can recognize several common signatures of stresses. Three different datasets of abiotic stresses on rice were used for meta-analysis. These microarray datasets were normalized to regulate data for technical variation, as opposed to biological differences between the samples. A t-test was performed to recognize
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Hypotonic infant with Pallister–Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations J. Genet. (IF 0.993) Pub Date : 2020-04-20 Anup Rawool, Priyanka Srivastava, Shubha R. Phadke
Pallister–Killian syndrome (PKS) is a rare genetic developmental disorder characterized, by intellectual disability, seizures, streaks of hypo- or hyperpigmentation and characteristic dysmorphic features. PKS is characterized by the presence of cytogenetic abnormality in form of a supernumerary isochromosome 12p, in a tissue limited mosaicism. The isochromosome 12p is usually not detected in karyotype
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CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome J. Genet. (IF 0.993) Pub Date : 2020-04-20 Leila Esmaeli Chamgordani, Nasim Ebrahimi, Farzane Amirmahani, Sadeq Vallian
Nephrotic syndrome (NS) is considered as a primary disease of the kidney that represents a heterogeneous group of glomerular disorders occurring mainly in children. It is generally divided into steroid-sensitive and steroid-resistant forms, depending upon the patient’s response to steroid therapy. Among the genes involved, the NPHS2 gene has been reported as the causative gene in steroid resistant
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Identification and expression profiling of HvMADS57 and HvD14 in a barley tb1 mutant J. Genet. (IF 0.993) Pub Date : 2020-04-20 Hong Zhou, Jinlian Luo, Qin Sun, Guangdeng Chen, Yuming Wei, Youliang Zheng, Yaxi Liu
MADS-box genes interact with TB1 to regulate plant organ morphogenesis. In rice, OsMADS57 interacts with OsTB1 to control OsD14 transcription. In this study, we aimed to determine the relationships among these genes in barley. We identified a natural mutant of HvTB1 (tb1) formed by a C→A transition at position 230, which resulted in a premature stop codon. We cloned the HvMADS57 and HvD14 genes and
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Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset J. Genet. (IF 0.993) Pub Date : 2020-04-19 Maria Cristina Costanzo, Antonio Gennaro Nicotera, Mirella Vinci, Aurelio Vitello, Agata Fiumara, Francesco Calì, Sebastiano Antonino Musumeci
Niemann–Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the NPC1 (in 95% of cases) or NPC2 (in ~5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations