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Frontiers in Genetics

Lawrence S Prince
Lung diseases impact patients across the lifespan, from infants in the first minutes of life through the aged population. Congenital abnormalities of lung structure can cause lung disease at birth or make adults more susceptible to chronic disease. Continuous inhalation of atmospheric components also requires the lung to be resilient to cellular injury. Fibroblast growth factor 10 (FGF10) regulates multiple stages of structural lung morphogenesis, cellular differentiation, and the response to injury. As a driver of lung airway branching morphogenesis, FGF10 signaling defects during development lead to neonatal lung disease...
2018: Frontiers in Genetics
Mingze Xia, Zunzhe Tian, Faqi Zhang, Gulzar Khan, Qingbo Gao, Rui Xing, Yu Zhang, Jingya Yu, Shilong Chen
Qinghai-Tibetan Plateau (QTP) is an important biodiversity hub, which is very sensitive to climate change. Here in this study, we investigated genetic diversity and past population dynamics of Lancea tibetica (Mazaceae), an endemic herb to QTP and adjacent highlands. We sequenced chloroplast and nuclear ribosomal DNA fragments for 429 individuals, collected from 29 localities, covering their major distribution range at the QTP. A total of 19 chloroplast haplotypes and 13 nuclear genotypes in two well-differentiated lineages, corresponding to populations into two groups isolated by Tanggula and Bayangela Mountains...
2018: Frontiers in Genetics
Wenlei Fan, Lingyang Xu, Hong Cheng, Ming Li, Hehe Liu, Yong Jiang, Yuming Guo, Zhengkui Zhou, Shuisheng Hou
Short tandem repeats (STRs) are usually associated with genetic diseases and gene regulatory functions, and are also important genetic markers for analysis of evolutionary, genetic diversity and forensic. However, for the majority of STRs in the duck genome, their population genetic properties and functional impacts remain poorly defined. Recent advent of next generation sequencing (NGS) has offered an opportunity for profiling large numbers of polymorphic STRs. Here, we reported a population-scale analysis of STR variation using genome resequencing in mallard and Pekin duck...
2018: Frontiers in Genetics
Martina Barchitta, Andrea Maugeri, Annalisa Quattrocchi, Germana Barone, Paolo Mazzoleni, Alfio Catalfo, Guido De Guidi, Maria Giovanna Iemmolo, Nunzio Crimi, Antonella Agodi
Emerging evidence suggests that air pollution increases the risk of cardiovascular disease (CVD) and metabolic disorders, adding to the global burden of disease attributable to lifestyle and behavioral factors. Although long interspersed nucleotide elements 1 (LINE-1) methylation has been associated with these disorders, no studies have simultaneously examined the effects of diet and air pollution exposure on DNA methylation. Herein, we evaluated the association of particulate matter (PM with aerodynamic diameters of less than 10 mm) exposure and adherence to Mediterranean Diet (MD) with LINE-1 methylation...
2018: Frontiers in Genetics
Francis Robert, Jerry Pelletier
Over the past 15 years, sequencing of the human genome and The Cancer Genome Atlas (TCGA) project have led to comprehensive lists of single-nucleotide polymorphisms (SNPs) and gene mutations across a large number of human samples. However, our ability to predict the functional impact of SNPs and mutations on gene expression is still in its infancy. Here, we provide key examples to help understand how mutations present in genes can affect translational output.
2018: Frontiers in Genetics
Rodrick Ndlovu, Lian-Cheng Deng, Jin Wu, Xiao-Kun Li, Jin-San Zhang
The tenacious prevalence of human pancreatic diseases such as diabetes mellitus and adenocarcinoma has prompted huge research interest in better understanding of pancreatic organogenesis. The plethora of signaling pathways involved in pancreas development is activated in a highly coordinated manner to assure unmitigated development and morphogenesis in vertebrates. Therefore, a complex mesenchymal-epithelial signaling network has been implicated to play a pivotal role in organogenesis through its interactions with other germ layers, specifically the endoderm...
2018: Frontiers in Genetics
Bin Yu, Wei Long, Yuqi Yang, Ying Wang, Lihua Jiang, Zhengmao Cai, Huaiyan Wang
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4...
2018: Frontiers in Genetics
Pierre R Bushel, Richard S Paules, Scott S Auerbach
The TempO-SeqTM platform allows for targeted transcriptomic analysis and is currently used by many groups to perform high-throughput gene expression analysis. Herein we performed a comparison of gene expression characteristics measured using 45 purified RNA samples from the livers of rats exposed to chemicals that fall into one of five modes of action (MOAs). These samples have been previously evaluated using AffymetrixTM rat genome 230 2.0 microarrays and Illumina® whole transcriptome RNA-Seq. Comparison of these data with TempO-Seq analysis using the rat S1500+ beta gene set identified clear differences in the platforms related to signal to noise, root mean squared error, and/or sources of variability...
2018: Frontiers in Genetics
Sufang Peng, Haifeng Jiang, Jiang Du, Shuxing Lin, Shujun Pan, Shunying Yu, Min Zhao
Objective: To explore the association between methadone dosage, plasma drug concentration, SNPs of μ-opioid receptor gene ( OPRM1 ), ATP-binding cassette subfamily B member 1 gene ( ABCB1 ), and methadone maintenance treatment (MMT) response. Method: A total of 240 Chinese Han participants receiving MMT were recruited from Shanghai. Nine single nucleotide polymorphisms (SNPs) of the OPRM1 gene and three SNPs of the ABCB1 gene were genotyped, plasma methadone concentration was detected, and a morphine urine test was taken from all subjects...
2018: Frontiers in Genetics
Amit Kishore, Martin Petrek
Unraveling of the HLA-related immunogenetic basis of several immune disorders is complex due to the extensive HLA polymorphism and strong linkage-disequilibrium between HLA loci. A lack of in phase sequence information, a relative deficiency of high resolution genotyping including non-coding regions and ambiguous haplotype assignment make it difficult to compare findings across association studies and to attribute a causal role to specific HLA alleles/haplotypes in disease susceptibility and modification of disease phenotypes...
2018: Frontiers in Genetics
Karlijne Indencleef, Jasmien Roosenboom, Hanne Hoskens, Julie D White, Mark D Shriver, Stephen Richmond, Hilde Peeters, Eleanor Feingold, Mary L Marazita, John R Shaffer, Seth M Weinberg, Greet Hens, Peter Claes
Objectives: Orofacial clefting is one of the most prevalent craniofacial malformations. Previous research has demonstrated that unaffected relatives of patients with non-syndromic cleft lip with/without cleft palate (NSCL/P) show distinctive facial features, which can be an expression of underlying NSCL/P susceptibility genes. These results support the hypothesis that genes involved in the occurrence of a cleft also play a role in normal craniofacial development. In this study, we investigated the influence of genetic variants associated with NSCL/P on normal-range variation in facial shape...
2018: Frontiers in Genetics
Monnat Pongpanich, Maturada Patchsung, Apiwat Mutirangura
Reduction of physiologic replication-independent endogenous DNA double strand breaks (Phy-RIND-EDSBs) in chronological aging yeast increases pathologic RIND-EDSBs (Path-RIND-EDSBs). Path-RIND-EDSBs can occur spontaneously in non-dividing cells without any inductive agents, and they must be repaired immediately otherwise their accumulation can lead to senescence. If yeasts have DSB repair defect, retention of Path-RIND-EDSBs can be found. Previously, we found that Path-RIND-EDSBs are not only produced but also retained in chronological aging yeast...
2018: Frontiers in Genetics
Xiaoli Qiang, Huangrong Chen, Xiucai Ye, Ran Su, Leyi Wei
As one of the well-studied RNA methylation modifications, N6-methyladenosine (m6 A) plays important roles in various biological progresses, such as RNA splicing and degradation, etc. Identification of m6 A sites is fundamentally important for better understanding of their functional mechanisms. Recently, machine learning based prediction methods have emerged as an effective approach for fast and accurate identification of m6 A sites. In this paper, we proposed "M6AMRFS", a new machine learning based predictor for the identification of m6 A sites...
2018: Frontiers in Genetics
Joanne Watson, Chiara Francavilla
Fibroblast Growth Factor 10 (FGF10) is a multifunctional mesenchymal-epithelial signaling growth factor, which is essential for multi-organ development and tissue homeostasis in adults. Furthermore, FGF10 deregulation has been associated with human genetic disorders and certain forms of cancer. Upon binding to FGF receptors with heparan sulfate as co-factor, FGF10 activates several intracellular signaling cascades, resulting in cell proliferation, differentiation, and invasion. FGF10 activity is modulated not only by heparan sulfate proteoglycans in the extracellular matrix, but also by hormones and other soluble factors...
2018: Frontiers in Genetics
Natasha S Clayton, Richard P Grose
Whilst cross-talk between stroma and epithelium is critical for tissue development and homeostasis, aberrant paracrine stimulation can result in neoplastic transformation. Chronic stimulation of epithelial cells with paracrine Fibroblast Growth Factor 10 (FGF10) has been implicated in multiple cancers, including breast, prostate and pancreatic ductal adenocarcinoma. Here, we examine the mechanisms underlying FGF10-induced tumourigenesis and explore novel approaches to target FGF10 signaling in cancer.
2018: Frontiers in Genetics
Daniel Rodríguez Gutiérrez, Wassim Eid, Anna Biason-Lauber
Sertoli cells are main players in the male gonads development and their study may shed light on 46,XY disorders of sex development (DSD). Mature primary Sertoli cells are incapable of proliferating in prolonged in vitro cultures and the available Sertoli cell models have several limitations since they derive from mouse or human cancer tissues. We differentiated human fibroblasts (HFs)-derived induced pluripotent stem cells into Sertoli-like cells (SLC) and, in order to characterize this new Sertoli cell model, we performed gene expression analyses by NextGeneration Sequencing techniques...
2018: Frontiers in Genetics
Jasmien Roosenboom, Karlijne Indencleef, Myoung Keun Lee, Hanne Hoskens, Julie D White, Dongjing Liu, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Carolyn Hodges-Simeon, Eleanor Feingold, Mary L Marazita, Stephen Richmond, Mark D Shriver, Peter Claes, John R Shaffer, Seth M Weinberg
Many factors influence human facial morphology, including genetics, age, nutrition, biomechanical forces, and endocrine factors. Moreover, facial features clearly differ between males and females, and these differences are driven primarily by the influence of sex hormones during growth and development. Specific genetic variants are known to influence circulating sex hormone levels in humans, which we hypothesize, in turn, affect facial features. In this study, we investigated the effects of testosterone-related genetic variants on facial morphology...
2018: Frontiers in Genetics
Csaba Fillér, Lilla Hornyák, Jason Roszik
No abstract text is available yet for this article.
2018: Frontiers in Genetics
Wei Li, Kuan Sun, Zhongying Ren, Chengxiang Song, Xiaoyu Pei, Yangai Liu, Zhenyu Wang, Kunlun He, Fei Zhang, Xiaojian Zhou, Xiongfeng Ma, Daigang Yang
Sucrose transporters (SUTs) play key roles in allocating the translocation of assimilates from source to sink tissues. Although the characteristics and biological roles of SUTs have been intensively investigated in higher plants, this gene family has not been functionally characterized in cotton. In this study, we performed a comprehensive analysis of SUT genes in the tetraploid cotton Gossypium hirsutum . A total of 18 G. hirsutum SUT genes were identified and classified into three groups based on their evolutionary relationships...
2018: Frontiers in Genetics
Silvia Raineri, Jane Mellor
Mutations in genes encoding enzymes of the tricarboxylic acid cycle often contribute to cancer development and progression by disrupting cell metabolism and altering the epigenetic landscape. This is exemplified by the isoforms of isocitrate dehydrogenase (IDH1/2), which metabolize isocitrate to α-Ketoglutarate (α-KG). Gain of function mutations in IDH1 or IDH2 result in reduced levels of α-KG as a result of increased formation of D-2-Hydroxyglutarate (2-HG). α-KG is an essential co-factor for certain histone and DNA demethylases, while 2-HG is a competitive inhibitor...
2018: Frontiers in Genetics
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