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Molecular Genetics and Genomics: MGG

F Alizadeh, A Bozorgmehr, J Tavakkoly-Bazzaz, M Ohadi
Differential expansion of a number of human short tandem repeats (STRs) at the critical core promoter and 5' untranslated region (UTR) support the hypothesis that at least some of these STRs may provide a selective advantage in human evolution. Following a genome-wide screen of all human protein-coding gene 5' UTRs based on the Ensembl database ( ), we previously reported that the longest STR in this interval is a (GA)32, which belongs to the X-linked zinc finger MYM-type containing 3 (ZMYM3) gene...
January 13, 2018: Molecular Genetics and Genomics: MGG
Mengyao Wang, Chao Yang, Xiuqing Zhang, Xiangchun Li
The key roles of the TP53 mutation in cancer have been well established. TP53 is the most frequently mutated gene, and its inactivation is widespread among human cancer types. However, the landscape of genomic alterations in human cancers stratified by the TP53 mutation has not yet been described. We obtained somatic mutation and copy number change data of 6551 regular-mutated samples from the Cancer Genome Atlas (TCGA) and compared significantly mutated genes (SMGs), copy number alterations, mutational signatures and mutational strand asymmetries between cancer samples with and without the TP53 mutation...
January 12, 2018: Molecular Genetics and Genomics: MGG
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
Xu Lin, Cheng Peng, Jonathan Greenbaum, Zhang-Fang Li, Ke-Hao Wu, Zeng-Xin Ao, Tong Zhang, Jie Shen, Hong-Wen Deng
Dyslipidemia (DL) is closely related to osteoporosis (OP), while the exact common genetic mechanisms are still largely unknown. We proposed to use novel genetic analysis methods with pleiotropic information to identify potentially novel and/or common genes for the potential shared pathogenesis associated with OP and/or DL. We assessed the pleiotropy between plasma lipid (PL) and femoral neck bone mineral density (FNK BMD). We jointly applied the conditional false discovery rate (cFDR) method and the genetic analysis incorporating pleiotropy and annotation (GPA) method to the summary statistics provided by genome-wide association studies (GWASs) of FNK BMD (n = 49,988) and PL (n = 188,577) to identify potentially novel and/or common genes for BMD/PL...
January 11, 2018: Molecular Genetics and Genomics: MGG
Sisi Li, Quansheng Xi, Xiaoyu Zhang, Dong Yu, Lin Li, Zhenyang Jiang, Qiuyun Chen, Qing K Wang, Elias I Traboulsi
We investigated an Amish family in which three siblings presented with an early-onset childhood retinal dystrophy inherited in an autosomal recessive fashion. Genome-wide linkage analysis identified significant linkage to marker D2S2216 on 2q11 with a two-point LOD score of 1.95 and a multi-point LOD score of 3.76. Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus...
January 10, 2018: Molecular Genetics and Genomics: MGG
Chengcheng Tao, Xiang Jin, Liping Zhu, Quanliang Xie, Xuchu Wang, Hongbin Li
Ascorbate peroxidase (APX) is a member of heme-containing peroxidases which catalyze the H2O2-dependent oxidation of a wide range of substrates in plants and animals. As is known, H2O2 acts as a signaling molecule in the regulation of fiber development. Our previous work reported that ascorbate peroxidase 1 (GhAPX1) was important for cotton fiber elongation. However, knowledge about APX gene family members and their evolutionary and functional characteristics in cotton is limited. Here, we report 26 GhAPX genes by genome-wide investigation of tetraploid cotton Gossypium hirsutum...
January 6, 2018: Molecular Genetics and Genomics: MGG
Nóra Á Bana, Anna Nyiri, János Nagy, Krisztián Frank, Tibor Nagy, Viktor Stéger, Mátyás Schiller, Péter Lakatos, László Sugár, Péter Horn, Endre Barta, László Orosz
We present here the de novo genome assembly CerEla1.0 for the red deer, Cervus elaphus, an emblematic member of the natural megafauna of the Northern Hemisphere. Humans spread the species in the South. Today, the red deer is also a farm-bred animal and is becoming a model animal in biomedical and population studies. Stag DNA was sequenced at 74× coverage by Illumina technology. The ALLPATHS-LG assembly of the reads resulted in 34.7 × 103 scaffolds, 26.1 × 103 of which were utilized in Cer.Ela1.0...
January 2, 2018: Molecular Genetics and Genomics: MGG
Yun-Zhi Huang, Lan-Hai Wei, Shi Yan, Shao-Qing Wen, Chuan-Chao Wang, Ya-Jun Yang, Ling-Xiang Wang, Yan Lu, Chao Zhang, Shu-Hua Xu, Da-Li Yao, Li Jin, Hui Li
The Y-chromosome haplogroup C2c1a1a1-M407 is a predominant paternal lineage in Mongolic-speaking populations, especially in Buryats and Kalmyks. However, the origin and internal phylogeny of C2c1a1a1-M407 have not been investigated in detail. In this study, we analyzed twenty-three Y-chromosome sequences of haplogroup C2c1a1a1-M407 and its most closely related clades. We generated a high-resolution phylogenetic tree of haplogroup C2c1a1a1-M407 and its upstream clade C2c1a1-CTS2657, including 32 subclades and 144 non-private Y-chromosome polymorphisms...
December 29, 2017: Molecular Genetics and Genomics: MGG
Yan Wang, Qipeng Zhou, Lian Dong, Mingmei Xiong, Hua Jiang, Meihua Guo, Li Zhao, Liang Yuan, Ziying Li, Hanwei Liu, Jian Wang, Nanshan Zhong, Wenju Lu
The polymorphisms of cytokine genes has been reported to modulate the individual's susceptibility to environmental stimuli in COPD development. C-X-C motif chemokine 10 (CXCL10) mediates recruitment inflammatory cells such as monocytes. Therefore, it may play a key role in COPD. Here, a case-control study was conducted to evaluate the association between CXCL10 tag-SNPs and COPD risk. Four tag-SNPs including rs4256246, rs4508917, rs56061981, and rs56316945 were identified based on the linkage disequilibrium (LD) analysis in 30 healthy controls...
December 28, 2017: Molecular Genetics and Genomics: MGG
Li Gu, Zhong-Yi Zhang, Hong Quan, Ming-Jie Li, Fang-Yu Zhao, Yuan-Jiang Xu, Jiang Liu, Man Sai, Wei-Lie Zheng, Xiao-Zhong Lan
Mirabilis himalaica (Edgew.) Heimerl is among the most important genuine medicinal plants in Tibet. However, the biosynthesis mechanisms of the active compounds in this species are unclear, severely limiting its application. To clarify the molecular biosynthesis mechanism of the key representative active compounds, specifically rotenoid, which is of special medicinal value for M. himalaica, RNA sequencing and TOF-MS technologies were used to construct transcriptomic and metabolomic libraries from the roots, stems, and leaves of M...
December 28, 2017: Molecular Genetics and Genomics: MGG
Yong Guo, Bohong Su, Junyong Tang, Fulai Zhou, Li-Juan Qiu
Gene-based molecular markers are increasingly used in crop breeding programs for marker-assisted selection. However, identification of genetic variants associated with important agronomic traits has remained a difficult task in soybean. RNA-Seq provides an efficient way, other than assessing global expression variations of coding genes, to discover gene-based SNPs at the whole genome level. In this study, RNA isolated from four soybean accessions each with three replications was subjected to high-throughput sequencing and a range of 44...
December 27, 2017: Molecular Genetics and Genomics: MGG
Xiongwei Zhao, Yajuan Liu, Wenmei Wu, Yuhua Li, Longxin Luo, Yuzhou Lan, Yanhua Cao, Zhiming Zhang, Shibin Gao, Guangsheng Yuan, Li Liu, Yaou Shen, Guangtang Pan, Haijian Lin
Large phenotypic variations in the lead (Pb) concentration were observed in grains and leaves of maize plants. A further understanding of inheritance of Pb accumulation may facilitate improvement of low-Pb-accumulating cultivars in maize. A genome-wide association study was conducted in a population of 269 maize accessions with 43,737 single-nucleotide polymorphisms (SNPs). The Pb concentrations in leaves and kernels of 269 accessions were collected in pot-culture and field experiments in years of 2015 and 2016...
December 22, 2017: Molecular Genetics and Genomics: MGG
Aleksandra Bylińska, Karolina Wilczyńska, Jacek Malejczyk, Łukasz Milewski, Marta Wagner, Monika Jasek, Wanda Niepiekło-Miniewska, Andrzej Wiśniewski, Rafał Płoski, Ewa Barcz, Piotr Roszkowski, Paweł Kamiński, Andrzej Malinowski, Jacek R Wilczyński, Paweł Radwan, Michał Radwan, Piotr Kuśnierczyk, Izabela Nowak
Endometriosis is a disease in which endometriotic tissue occurs outside the uterus. Its pathogenesis is still unknown. The most widespread hypothesis claims that ectopic endometrium appears as a result of retrograde menstruation and its insufficient elimination by immunocytes. Some reports have shown expression of non-classical HLA-G molecules on ectopic endometrium. HLA-G is recognized by KIR2DL4, LILRB1 and LILRB2 receptors on natural killer (NK) and other cells. These receptors are polymorphic, which may affect their activity...
December 12, 2017: Molecular Genetics and Genomics: MGG
Ning Li, Tao Zhou, Xin Geng, Yulin Jin, Xiaozhu Wang, Shikai Liu, Xiaoyan Xu, Dongya Gao, Qi Li, Zhanjiang Liu
Growth is the most important economic trait in aquaculture. Improvements in growth-related traits can enhance production, reduce costs and time to produce market-size fish. Catfish is the major aquaculture species in the United States, accounting for 65% of the US finfish production. However, the genes underlying growth traits in catfish were not well studied. Currently, the majority of the US catfish industry uses hybrid catfish derived from channel catfish female mated with blue catfish male. Interestingly, channel catfish and blue catfish exhibit differences in growth-related traits, and therefore the backcross progenies provide an efficient system for QTL analysis...
December 12, 2017: Molecular Genetics and Genomics: MGG
Hyeonso Ji, Tae-Ho Kim, Gang-Seob Lee, Hyun-Ju Kang, Seung-Bum Lee, Seok Cheol Suh, Song Lim Kim, Inchan Choi, Jeongho Baek, Kyung-Hwan Kim
Bakanae disease (BD) has emerged as a serious threat in almost all rice cultivation regions worldwide. Nampyeong is a Korean japonica rice variety known to be resistant to BD. In this study, quantitative trait locus (QTL) mapping was performed with F2 and F3 plants derived from a cross between the Nampyeong variety and a susceptible Korean japonica line, DongjinAD. First, resequencing of Nampyeong and DongjinAD was performed, which identified 171,035 single nucleotide polymorphisms (SNPs) between the two parental varieties...
December 11, 2017: Molecular Genetics and Genomics: MGG
Ying Chen, Luo Guo, Chen-Long Li, Jing Shan, Hai-Song Xu, Jie-Ying Li, Shan Sun, Shao-Juan Hao, Lei Jin, Gang Chai, Tian-Yu Zhang
Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In this study, we conducted mutational analysis on Chinese TCS patients to reveal a mutational spectrum of known causative genes and show phenotype-genotype data to provide more information for gene counselling and future studies on the pathogenesis of TCS. Twenty-two TCS patients were recruited from two tertiary referral centres, and Sanger sequencing for the coding exons and exon-intron boundaries of TCOF1, POLR1D and POLR1C was performed...
December 11, 2017: Molecular Genetics and Genomics: MGG
Tomohiro Kudoh, Mitsuhiko Takahashi, Takayuki Osabe, Atsushi Toyoda, Hideki Hirakawa, Yutaka Suzuki, Nobuko Ohmido, Yasuyuki Onodera
Spinach (Spinacia oleracea L.) is a dioecious plant with male heterogametic sex determination and homomorphic sex chromosomes (XY). The dioecism is utilized for producing commercial hybrid seeds, and hence understanding the molecular-genetic basis of the species' sex determining locus is an important issue for spinach breeding. In this study, seven dominant DNA markers were shown to completely co-segregate with the male-determining gene in segregating spinach populations comprising > 1500 plants. In addition, these seven dominant DNA markers were completely associated with the male-determining gene in over 100 spinach germplasm accessions and cultivars...
December 8, 2017: Molecular Genetics and Genomics: MGG
Xiao-Ren Chen, Shen-Xin Huang, Ye Zhang, Gui-Lin Sheng, Bo-Yue Zhang, Qi-Yuan Li, Feng Zhu, Jing-You Xu
Phytophthora cactorum, an oomycete pathogen, infects more than 200 plant species within several plant families. To gain insight into the repertoire of the infection-related genes of P. cactorum, Illumina RNA-Seq was used to perform a global transcriptome analysis of three life cycle stages of the pathogen, mycelia (MY), zoospores (ZO) and germinating cysts with germ tubes (GC). From over 9.8 million Illumina reads for each library, 18,402, 18,569 and 19,443 distinct genes were identified for MY, ZO and GC libraries, respectively...
December 7, 2017: Molecular Genetics and Genomics: MGG
Kopal Singhal, Sujata Mohanty
Multiple toxin-antitoxin (TA) systems are housed in different locations within the bacterial genome and are known to be associated with various cellular processes and stress-related adaptation. In endosymbionts, although, the TA system has scarce occurrence but studies have highlighted its presence in enhancing host-symbiont interactions. Wolbachia, an obligate endosymbiont, has recently been proposed as a biocontrol agent which may be helpful in controlling vector-borne diseases. There are reports suggesting the role of TA system in inducing cytoplasmic incompatibility in case of Wolbachia, however, the underlying mechanism is still not known...
December 6, 2017: Molecular Genetics and Genomics: MGG
Celso Gaspar Litholdo, Andrew Leigh Eamens, Peter Michael Waterhouse
In plants, microRNAs (miRNAs) have evolved in parallel to the protein-coding genes that they target for expression regulation, and miRNA-directed gene expression regulation is central to almost every cellular process. MicroRNA, miR163, is unique to the Arabidopsis genus and is processed into a 24-nucleotide (nt) mature small regulatory RNA (sRNA) from a single precursor transcript transcribed from a single locus, the MIR163 gene. The MIR163 locus is a result of a recent inverted duplication event of one of the five closely related S-ADENOSYL-METHYLTRANSFERASE genes that the mature miR163 sRNA targets for expression regulation...
December 1, 2017: Molecular Genetics and Genomics: MGG
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