A MCP-1 promoter polymorphism at G-2518A is associated with spontaneous preterm birth

Wang, Yan; Zhang, Xiao-Ai; Yang, Xiao; Wu, Zhihao; Feng, Zhichun

doi:10.1007/s00438-014-0921-6

Cited by 6 publications

(6 citation statements)

References 30 publications

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“…In order to facilitate the expression of ectopic gene, an optimal mRNA structure in D . magna was also reported [ 8 ]. These progress of functional genomics allowed us for detecting one of arthropod hormones, ecdysteroid using a GFP reporter gene under control of ecdysteroid responsive elements in this species [ 9 ].…”

Section: Introductionmentioning

confidence: 70%

“…One expresses the human estrogen receptor α (hERα) ( Fig 1A ) ubiquitously. The other plasmid ( Fig 1B ) contains 4x repeats of the Estrogen Response Element (ERE), mCherry as a visible reporter, and the EF1α1 3’UTR truncated to 60 bp plus its poly(A) signal for higher RNA stability and/or translation efficiency [ 8 ]. The sequence between the ERE repeats and the mCherry start codon is the same as that between the EcRE (Ecdysteroid response element) repeats and its reporter start codon in a previously established ecdysteroid reporter in this species [ 9 ].…”

Section: Resultsmentioning

confidence: 99%

“…To generate the EcRE reporter plasmid, full length mCherry and the first 60 bp of EF1α-1 3’UTR [ 8 ] were joined into a pRC21 backbone containing the last 13bp of EF1α-1 3’UTR and therefore providing a poly(A) signal via InFusion (TAKARA). A 4xEcRE promoter [ 9 ] was amplified via polymerase chain reaction (PCR) with primers introducing a restriction site for MscI.…”

Section: Methodsmentioning

confidence: 99%

“…Fluorescence intensity (fluo) was quantified using ImageJ software. Previously reported methods [ 8 , 43 , 44 ] were adapted to reduce background interference. In this study, only the area of thoracic appendages (thorap) was used for calculations with the following formula.…”

Section: Methodsmentioning

confidence: 99%

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Genomic integration and ligand-dependent activation of the human estrogen receptor α in the crustacean Daphnia magna

et al. 2018

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The freshwater crustacean Daphnia have a long history in water quality assessments and now lend themselves to detection of targeted chemicals using genetically encoded reporter gene due to recent progress in the development of genome editing tools. By introducing human genes into Daphnia, we may be able to detect chemicals that affect the human system, or even apply it to screening potentially useful chemicals. Here, we aimed to develop a transgenic line of Daphnia magna that contains the human estrogen receptor alpha (hERα) and shows a fluorescence response to exposure of estrogens. We designed plasmids to express hERα in Daphnia (EF1α1:esr1) and to report estrogenic activity via red fluorescence (ERE:mcherry) under the control of estrogen response element (ERE). After confirmation of functionality of the plasmids by microinjection into embryos, the two plasmids were joined, a TALE site was added and integrated into the D. magna genome using TALEN. When the resulting transgenic Daphnia named the ES line was exposed to Diethylstilbestrol (DES) or 17β-Estradiol (E2), the ES line could reliably expressed red fluorescence derived from mCherry in a ligand-dependent manner, indicating that an estrogen-responsive line of D. magna was established. This is the first time a human gene was expressed in Daphnia, showcasing potential for further research.

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Section: Introductionmentioning

confidence: 70%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Genomic integration and ligand-dependent activation of the human estrogen receptor α in the crustacean Daphnia magna

et al. 2018

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“…Однако, в целом, многочис-ленные исследования по поиску генов-кандидатов с уче-том знаний биологических механизмов недоношенности не привели к уверенной воспроизводимости результатов в сравнительных когортах и пока не смогли оказать суще-ственного влияния на целостное понимание этиологии спонтанных преждевременных родов, хотя и определили ряд патогенетических путей [25]. Поэтому следующая вол-на генетических исследований была основана на каче-ственно иных методах, хотя, справедливости ради, следует сказать, что исследования по поиску ассоциаций с гена-ми-кандидатами не утратили своей актуальности [30][31][32].…”

Section: вопросы современной педиатрииunclassified

Neurogenetic Aspects of Perinatal Hypoxic-Ischemic Affections of the Central Nervous System

Каркашадзе¹,

Савостьянов²,

Макарова³

et al. 2016

Vopr. sovr. pediatr.

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Spontaneous preterm birth: advances toward the discovery of genetic predisposition

Strauss

Romero

Gomez‐Lopez

et al. 2018

American Journal of Obstetrics and Gynecology

121

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Evidence from family and twin-based studies provide strong support for a significant contribution of maternal and fetal genetics to the timing of parturition and spontaneous preterm birth. However, there has been only modest success in the discovery of genes predisposing to preterm birth, despite increasing sophistication of genetic and genomic technology. In contrast, DNA variants associated with other traits/diseases have been identified. For example, there is overwhelming evidence that suggests that the nature and intensity of an inflammatory response in adults and children are under genetic control. Because inflammation is often invoked as an etiologic factor in spontaneous preterm birth, the question of whether spontaneous preterm birth has a genetic predisposition in the case of pathologic inflammation has been of long-standing interest to investigators. Here, we review various genetic approaches used for the discovery of preterm birth genetic variants in the context of inflammation-associated spontaneous preterm birth. Candidate gene studies have sought genetic variants that regulate inflammation in the mother and fetus; however, the promising findings have often not been replicated. Genome-wide association studies, an approach to the identification of chromosomal loci responsible for complex traits, have also not yielded compelling evidence for DNA variants predisposing to preterm birth. A recent genome-wide association study that included a large number of White women (>40,000) revealed that maternal loci contribute to preterm birth. Although none of these loci harbored genes directly related to innate immunity, the results were replicated. Another approach to identify DNA variants predisposing to preterm birth is whole exome sequencing, which examines the DNA sequence of protein-coding regions of the genome. A recent whole exome sequencing study identified rare mutations in genes encoding for proteins involved in the negative regulation (dampening) of the innate immune response (eg, CARD6, CARD8, NLRP10, NLRP12, NOD2, TLR10) and antimicrobial peptide/proteins (eg, DEFB1, MBL2). These findings support the concept that preterm labor, at least in part, has an inflammatory etiology, which can be induced by pathogens (ie, intraamniotic infection) or "danger signals" (alarmins) released during cellular stress or necrosis (ie, sterile intraamniotic inflammation). These findings support the notion that preterm birth has a polygenic basis that involves rare mutations or damaging variants in multiple genes involved in innate immunity and host defense mechanisms against microbes and their noxious products. An overlap among the whole exome sequencing-identified genes and other inflammatory conditions associated with preterm birth, such as periodontal disease and inflammatory bowel disease, was observed, which suggests a shared genetic substrate for these conditions. We propose that whole exome sequencing, as well as whole genome sequencing, is the most promising approach for the identification of functionally signi...

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A MCP-1 promoter polymorphism at G-2518A is associated with spontaneous preterm birth

Cited by 6 publications

References 30 publications

Genomic integration and ligand-dependent activation of the human estrogen receptor α in the crustacean Daphnia magna

Genomic integration and ligand-dependent activation of the human estrogen receptor α in the crustacean Daphnia magna

Neurogenetic Aspects of Perinatal Hypoxic-Ischemic Affections of the Central Nervous System

Spontaneous preterm birth: advances toward the discovery of genetic predisposition

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