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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Translation01:31

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Published on: November 3, 2010

Common polymorphic transcript variation in human disease.

Hunter B Fraser1, Xiaohui Xie

  • 1Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. hunter@alum.mit.edu

Genome Research
|February 5, 2009
PubMed
Summary
This summary is machine-generated.

Polymorphic transcript variation (PTV) is common in human B-cells and linked to genetic differences. This variation may explain how certain genetic changes contribute to autoimmune disease risk.

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Area of Science:

  • Genomics
  • Human genetics
  • Molecular biology

Background:

  • Most human genes express different transcript isoforms across cell types.
  • The extent and impact of polymorphic transcript variation (PTV) within the same cell type across individuals remain largely unknown.

Purpose of the Study:

  • To investigate the prevalence and functional consequences of PTV in human B-cells.
  • To explore the relationship between PTV, single nucleotide polymorphisms (SNPs), and autoimmune diseases.

Main Methods:

  • Analysis of PTV in B-cells from two human populations.
  • Correlation of PTV with SNP genotypes in cis.
  • Examination of evolutionary selection signatures and enrichment in genome-wide association studies (GWAS) for autoimmune diseases.

Main Results:

  • Widespread PTV was identified in human B-cells, with tens of thousands of exons exhibiting heritable polymorphic expression.
  • Over 1000 exons showed strong cis-SNP associations.
  • Associated SNPs displayed evidence of recent positive selection and were enriched in GWAS for four autoimmune diseases.

Conclusions:

  • PTV is a widespread phenomenon in human B-cells and is heritable.
  • PTV, driven by cis-acting SNPs, is implicated as a mechanism contributing to autoimmune disease risk.
  • A catalog of PTV is crucial for interpreting disease association studies and understanding human phenotypic diversity.