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Related Concept Videos

General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis.

Fanlin Meng1, Guohong Yuan2, Xiurui Zhu1

  • 1School of Medicine, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Tsinghua University, Beijing, 100084, China.

Scientific Reports
|February 15, 2018
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Summary
This summary is machine-generated.

This study introduces integrated transcriptome and epigenome analysis (iTEA) to find functional genetic variants. The approach successfully identified known and novel single nucleotide polymorphisms (SNPs) linked to type 2 diabetes mellitus risk and glucose metabolism.

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) have identified numerous genetic loci for complex diseases.
  • Identifying functional variants and their molecular mechanisms remains a challenge due to inefficient strategies.

Purpose of the Study:

  • To develop and validate a novel strategy, integrated transcriptome and epigenome analysis (iTEA), for identifying functional genetic variants in non-coding elements.
  • To apply iTEA to type 2 diabetes mellitus (T2DM) to identify risk variants and understand their role in pathogenesis.

Main Methods:

  • Developed and implemented the integrated transcriptome and epigenome analysis (iTEA) strategy.
  • Applied iTEA to a type 2 diabetes mellitus cohort.
  • Validated identified variants through established genetic databases and functional analysis.

Main Results:

  • Successfully identified a known type 2 diabetes mellitus risk variant (rs35767) using iTEA.
  • Discovered a novel functional single nucleotide polymorphism (SNP), rs815815, associated with glucose metabolism.
  • Demonstrated iTEA's efficiency in pinpointing functional variants in non-coding regions.

Conclusions:

  • iTEA provides a direct and rapid approach to identify functional genetic variants in complex diseases like type 2 diabetes mellitus.
  • The methodology is extendable to the study of other complex diseases, facilitating the discovery of novel disease mechanisms and therapeutic targets.