Potential regulatory SNPs in promoters of human genes: a systematic approach.

Abstract:

:Single nucleotide polymorphisms (SNPs) can significantly contribute to the cellular level of the mRNA transcripts encoded by human disease related genes. DNA variations between individuals can be an indication of predisposition to disease or affect the response to treatment. An algorithm allowing in silico extraction of SNPs with the high probability of influencing the level of gene expression is highly desirable. We performed a whole-genome analysis of SNP markers in regulatory areas of the human genes. Computational criteria were applied to predict an influence of the nucleotide replacement on the individual gene's expression. We formed a list of 14127 regulatory SNPs corresponding to 8555 regulatory areas suitable for future association studies. A catalogue of 1859 SNP entries, confirmed by analysis in populations, and allocated to 1607 human regulatory areas was created. We also revealed 13 cases of overlapped promoters corresponding to the human genes transcribed from opposite DNA strands and containing the regulatory SNP markers validated in populations. A population-validated set of regulatory SNP markers is organized in a database available in open access as a Supplementary file and by ftp://194.67.85.195/.

journal_name

Mol Cell Probes

authors

Stepanova M,Tiazhelova T,Skoblov M,Baranova A

doi

10.1016/j.mcp.2006.03.007

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

348-58

issue

6

eissn

0890-8508

issn

1096-1194

pii

S0890-8508(06)00038-7

journal_volume

20

pub_type

杂志文章
  • Selection of stable reference genes for gene expression analysis in sweet potato (Ipomoea batatas L.).

    abstract::Gene expression analysis is one of the most common and important studies in biology and biomedicine. No matter for traditional blotting analysis or currently commonly used PCR strategy, all need a stable reference gene for normalizing the gene expression. To screen and select housekeeping genes as the most stable refe...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2020.101610

    authors: Yu J,Su Y,Sun J,Liu J,Li Z,Zhang B

    更新日期:2020-10-01 00:00:00

  • Cell preservation methods and its application to studying rare disease.

    abstract::The ability to preserve and transport human cells in a stable medium over long distances is critical to collaborative efforts and the advancement of knowledge in the study of human disease. This is particularly important in the study of rare diseases. Recently, advancements in the understanding of renal ciliopathies h...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章,评审

    doi:10.1016/j.mcp.2021.101694

    authors: Dewhurst RM,Molinari E,Sayer JA

    更新日期:2021-01-08 00:00:00

  • Two-color multiplex assay for the identification of orthopox viruses with real-time LUX- PCR.

    abstract::The LUX [Light Upon eXtension] is a real-time detection system that can be used for the detection and quantification of pathogens nucleic acids. In this study we used a universal LUX approach, a variation of the LUX detection system, for identifying Orthopoxvirus nucleic acids in real time. This approach enables the d...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2005.05.003

    authors: Aitichou M,Javorschi S,Ibrahim MS

    更新日期:2005-10-01 00:00:00

  • Insulin-like growth factor-I activates NFκB and NLRP3 inflammatory signalling via ROS in cancer cells.

    abstract::Previous studies have demonstrated that insulin-like growth factor-I (IGF-1) and reactive oxygen species (ROS) are involved in the development and progression of various cancers. However, their regulatory mechanism remains unknown. In this study, we treated cancer cells (HeLa, HepG2 and SW1116 cells) and normal cells ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2020.101583

    authors: Wang C,An Y,Wang Y,Shen K,Wang X,Luan W,Ma F,Ni L,Liu M,Yu L

    更新日期:2020-08-01 00:00:00

  • Polymorphisms in the Human SNAIL (SNAI1) gene.

    abstract::The human SNAIL is an important developmental protein involved in the formation of mesoderm and neural crest. The protein contains three classic and one atypical zinc-finger motif. The SNAI1 gene is composed of three exons. We have identified three SNPs in non-coding regions, two in the 5'UTR and one in intron 1, whic...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.2000.0332

    authors: Okajima K,Paznekas WA,Burstyn T,Jabs EW

    更新日期:2001-02-01 00:00:00

  • Genomic structure of the EPHA1 receptor tyrosine kinase gene.

    abstract::Some receptor tyrosine kinase genes are mutated in inherited and somatically acquired human cancers. To permit mutational analysis, the complete genomic structure of the human EPHA1 gene on chromosome 7q34 was determined and oligonucleotide pairs were designed to amplify coding regions. The gene contains 18 exons, two...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1999.0228

    authors: Owshalimpur D,Kelley MJ

    更新日期:1999-06-01 00:00:00

  • Evaluation of two aneuploidy screening tests for chorionic villus samples: Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization.

    abstract::The vast majority of first-trimester pregnancy losses are the consequence of numerical aberrations in fetal chromosomes, which may involve nearly all chromosomes. Although commercial probes for all chromosomes are available for multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridizat...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2019.101422

    authors: Wu T,Zhu Y,Hong L,Lin Q,Chen C,Yang J,Ye L,Huang W,Zeng Y

    更新日期:2019-08-01 00:00:00

  • Specific detection of enterovirus 71 directly from clinical specimens using real-time RT-PCR hybridization probe assay.

    abstract::Enterovirus 71 (EV71) is one of the main causative agents of hand, foot and mouth disease (HFMD) in young children. Infections caused by EV71 could lead to many complications, ranging from brainstem encephalitis to pulmonary oedema, resulting in high mortality. Thus, rapid detection of the virus is required to enable ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2005.11.003

    authors: Tan EL,Chow VT,Kumarasinghe G,Lin RT,Mackay IM,Sloots TP,Poh CL

    更新日期:2006-04-01 00:00:00

  • Rapid control of purity for the cytoplasm of male-sterile seed stocks by means of a dot hybridization assay.

    abstract::To produce hybrids, one member of the parental line is genetically made male-sterile. This male-sterile trait is encoded by mitochondria so that it is maternally inherited. Consequently, the progeny of a male-sterile plant is fully sterile. Nevertheless, during the handling of cytoplasmic male-sterile seed stocks, som...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/0890-8508(91)90032-f

    authors: Santoni S,Faivre-Rampant P,Moreau E,Bervillé A

    更新日期:1991-02-01 00:00:00

  • Potential of recombinant flagellin fragment from Burkholderia thailandensis as an antigen for melioidosis antibody detection by indirect ELISA.

    abstract::Non-pathogenic Burkholderia thailandensis may be used as a model for Burkholderia pseudomallei due to the genetic similarity of these species. Moreover, the experimental manipulation of B. thailandensis is safer. In this study, we constructed recombinant flagellin protein fragments of B. thailandensis E264 (FLAG300, F...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2012.11.001

    authors: Wajanarogana S,Nimnuch P,Thongmee A,Kritsiriwuthinan K

    更新日期:2013-04-01 00:00:00

  • Reverse transcription loop-mediated isothermal amplification for the rapid detection of infectious bronchitis virus in infected chicken tissues.

    abstract::A reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay targeting the nucleocapsid phosphoprotein gene of infectious bronchitis virus (IBV) was developed. The detection limits for the IBV RT-LAMP assay were 10(1) 50% egg infection dose (EID(50)) per 50 microl of titrated viruses and no cross-rea...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2009.10.001

    authors: Chen HT,Zhang J,Ma YP,Ma LN,Ding YZ,Liu XT,Cai XP,Ma LQ,Zhang YG,Liu YS

    更新日期:2010-04-01 00:00:00

  • New polymorphisms within the variable number tandem repeat (VNTR) 7 locus of Mycobacterium avium subsp. paratuberculosis.

    abstract::Variable number tandem repeat (VNTR) is a frequently employed typing method of Mycobacterium avium paratuberculosis (MAP) isolates. Based on whole genome sequencing in a previous study, allelic diversity at some VNTR loci seems to over- or under-estimate the actual phylogenetic variance among isolates. Interestingly, ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2016.02.002

    authors: Fawzy A,Zschöck M,Ewers C,Eisenberg T

    更新日期:2016-06-01 00:00:00

  • Taxonomic and phylogenetic status of non-tuberculous mycobacteria in a Caribbean setting.

    abstract::This report describes detailed taxonomic and phylogenetic analysis of 15 non-tuberculous mycobacteria (NTMs) isolated from human pathological specimens in a Caribbean setting (12 slow-growers and three rapid-growers) that were not identified by cultural and biochemical tests and drug-susceptibility results. These isol...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2004.06.006

    authors: Ferdinand S,Legrand E,Goh KS,Berchel M,Mazzarelli G,Sola C,Tortoli E,Rastogi N

    更新日期:2004-12-01 00:00:00

  • Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.

    abstract::DNA samples of 2303 individuals from nine different population groups were screened for variant -175g-->t in the promoter region of the low-density lipoprotein receptor (LDLR) gene. The -175g-->t variant detected at carrier frequencies of 3-10% in different African population groups was absent in the Caucasian and Asi...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/s0890-8508(03)00050-1

    authors: Hoogendijk CF,Scholtz CL,Pimstone SM,Ehrenborg E,Kastelein JJ,Defesche JC,Thiart R,du Plessis L,de Villiers JN,Zaahl MG,Delport R,Rubinsztein DC,Raffel LJ,Grim CE,Mediene-Benchekor S,Amouyel P,Brousseau T,Steyn K,Lomb

    更新日期:2003-08-01 00:00:00

  • Use of RAPD for the detection of genetic variation in the human blood fluke, Schistosoma japonicum, from mainland China.

    abstract::A random amplified polymorphic DNA (RAPD) technique using 16 decamer oligonucleotide primers was employed to characterize isolates of Schistosoma japonicum from seven geographical locations (Sj1: Zhejiang; Sj2: Anhui; Sj3: Jiangxi; Sj4: Hunan; Sj5: Hubei; Sj6: Sichuan; Sj7: Yunnan) of the People's Republic of China. D...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1996.0048

    authors: Gasser RB,Bao-Zhen Q,Nansen P,Johansen MV,Bøgh H

    更新日期:1996-10-01 00:00:00

  • Construction of an internal control for the detection of Chlamydia pneumoniae by PCR.

    abstract::For the detection of Chlamydia pneumoniae by polymerase chain reaction (PCR) in respiratory samples, an internal control was constructed to monitor the efficiency of amplification in each reaction. The internal control was designed in a way that the same primer pair can be used to amplify the internal control and targ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1998.0180

    authors: Ursi D,Ieven M,Van Bever HP,Goossens H

    更新日期:1998-08-01 00:00:00

  • Enhanced discrimination of single nucleotide polymorphisms using 3' nucleotide differences in ligase detection reaction probes.

    abstract::The ligase detection reaction (LDR) is a highly specific genotyping method for single nucleotide variations. Although LDR typically discriminates single nucleotide polymorphism (SNP) alleles at the 3' end of so-called LDR discriminating probes, we designed probes in which the position of nucleotide differences for dis...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2010.08.005

    authors: Asari M,Omura T,Maseda C,Shiono H,Tasaki Y,Matsubara K,Shimizu K

    更新日期:2010-12-01 00:00:00

  • Quantitative PCR for the diagnosis of cutaneous leishmaniasis from formalin-fixed and paraffin-embedded skin sections.

    abstract::The present report describes a real-time PCR-based procedure to reliably determine the quantity of Leishmania amastigotes in relation to the amount of host tissue in histological skin sections from canine and equine cases of cutaneous leishmaniasis. The novel diagnostic Leishmania-PCR has a detection limit of <0.02 am...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2015.09.008

    authors: Müller N,Hentrich B,Frey CF,Welle M

    更新日期:2015-12-01 00:00:00

  • Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene.

    abstract::We report the occurrence of a common five-nucleotide deletion at codon 1309 of the adenomatous polyposis coli (APC) gene in four different South African population groups. The mutation causes familial adenomatous polyposis (FAP) in 18% (4/22 unrelated patients screened) of affected South Africans, which is similar to ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/s0890-8508(95)91007-7

    authors: Grobbelaar JJ,Oosthuizen CJ,Kotze MJ

    更新日期:1995-02-01 00:00:00

  • Rapid genomic typing of BK virus directly from clinical specimens.

    abstract::A simple and rapid method, PCR-restriction enzyme analysis (PCR-RE) for BK virus (BKV) typing was developed, based on the presence of type-specific restriction enzyme sites in a 327 bp PCR-generated fragment which partially encodes the VP1 protein. The enzymes, Alu I, Xmn I and Ava II, were used to digest the PCR prod...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1993.1047

    authors: Jin L

    更新日期:1993-08-01 00:00:00

  • Impact of fixation artifacts and threshold selection on high resolution melting analysis for KRAS mutation screening.

    abstract:INTRODUCTION:Treatment in metastatic colorectal cancer (mCRC) has expanded with monoclonal antibodies targeting epidermal growth factor receptor, but is restricted to patients with a wild-type (WT) KRAS mutational status. The most sensitive assays for KRAS mutation detection in formalin-fixed paraffin embedded (FFPE) t...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2017.06.003

    authors: Pérez-Báez W,García-Latorre EA,Maldonado-Martínez HA,Coronado-Martínez I,Flores-García L,Taja-Chayeb L

    更新日期:2017-10-01 00:00:00

  • Tracking the extramedullary PML-RARα-positive cell reservoirs in a preclinical model: biomarker of long-term drug efficacy.

    abstract::Using an acute promyelocytic leukemia (APL) preclinical model, we show that oncogene-specific PCR (Polymerase Chain Reaction)-based assays allow to evaluate the efficacy of immunotherapy combining all-trans retinoic acid (ATRA) and a DNA-based vaccine targeting the promyelocytic leukemia-retinoic acid receptor alpha (...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2012.08.001

    authors: Pokorna K,Le Pogam C,Chopin M,Balitrand N,Reboul M,Cassinat B,Chomienne C,Padua RA,Pla M

    更新日期:2013-02-01 00:00:00

  • A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.

    abstract::Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2016.10.008

    authors: Biasiotto G,Archetti S,Di Lorenzo D,Merola F,Paiardi G,Borroni B,Alberici A,Padovani A,Filosto M,Bonvicini C,Caimi L,Zanella I

    更新日期:2017-04-01 00:00:00

  • Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in hu

    abstract::Multiplex ligation dependent probe amplification (MLPA) assays were designed for the genes HEXB (OMIM: 606873), GM2A (OMIM: 613109) and SMARCAL1 (OMIM: 606622) of humans. Two sets of synthetic MLPA probes for these coding exons were tested. Changes in copy numbers were detected as well as single nucleotide polymorphis...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2012.08.007

    authors: Sobek AK,Evers C,Dekomien G

    更新日期:2013-02-01 00:00:00

  • Evaluation of PCR and nested PCR for laboratory diagnosis of hepatitis C virus infection.

    abstract::The detection of hepatitis C virus (HCV) RNA by nested polymerase chain reaction (PCR) is believed to be the most reliable method to diagnose HCV infections. A pitfall of nested PCR is that it is prone to contamination. Single step reverse transcription-PCR (RT-PCR) was performed, prospectively, on 80 sera from 59 pat...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1996.0024

    authors: Aslanzadeh J,Padilla BB,Shanley JD

    更新日期:1996-06-01 00:00:00

  • What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

    abstract::The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for r...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章,评审

    doi:10.1016/j.mcp.2015.05.015

    authors: Morris-Rosendahl DJ,Kaindl AM

    更新日期:2015-10-01 00:00:00

  • The construction and use of a PCR internal control.

    abstract::An example of the application and contruction of a polymerase chain reaction (PCR) internal control is presented. The internal control is synthesized in one PCR reaction. The primers used in this reaction possess 5' over-hanging ends which are identical to the primers used in the diagnostic reaction, whereas their 3' ...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1006/mcpr.1998.0170

    authors: Sachadyn P,Kur J

    更新日期:1998-10-01 00:00:00

  • A LightCycler real-time PCR hybridization probe assay for detecting food-borne thermophilic Campylobacter.

    abstract::In a previous study, we reported the performance of a PCR assay amplifying 287-bp of the 16S rRNA gene of thermo-tolerant Campylobacter (C. jejuni, C. lari, C. coli) through an international ring-trial involving 12 participating laboratories. Based on the validated set of primers, a LightCycler real-time PCR assay (LC...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2004.04.005

    authors: Perelle S,Josefsen M,Hoorfar J,Dilasser F,Grout J,Fach P

    更新日期:2004-10-01 00:00:00

  • miR-410-5p promotes the development of diabetic cardiomyopathy by suppressing PIM1-induced anti-apoptosis.

    abstract::Diabetic cardiomyopathy (DCM) is a common complication of diabetes mellitus that can cause many severe symptoms, such as heart failure, arrhythmia, and sudden death. However, the molecular mechanisms underlying cardiac dysfunction in DCM remain elusive. In this study, we found that miR-410-5p was increased in the myoc...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2020.101558

    authors: Xia X,Liang Y,Zheng W,Lin D,Sun S

    更新日期:2020-08-01 00:00:00

  • Real-time monitoring of DNA methyltransferase activity using a hemimethylated smart probe.

    abstract::A real-time assay for DNA methyltransferase (MTase) activity has been developed. A hemimethylated smart probe is used as the substrate for DNA MTase. Cleavage of the methylated product leads to separation of fluorophore from quencher, giving a proportional increase in fluorescence. The method permits real-time monitor...

    journal_title:Molecular and cellular probes

    pub_type: 杂志文章

    doi:10.1016/j.mcp.2016.03.007

    authors: Jin S,Liu H,Xia K,Ma C,He H,Wang K

    更新日期:2016-06-01 00:00:00