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The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population
1Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030-3301, USA. graveley@neuron.uchc.edu
Trends in Genetics : TIG
|December 7, 2007
Summary
Genetic variations called single nucleotide polymorphisms (SNPs) can alter pre-messenger RNA (pre-mRNA) splicing. These splicing changes are heritable and contribute to individual human variation without causing disease.
Area of Science:
- Genetics
- Molecular Biology
- Human Variation
Background:
- Inherited genetic disorders often stem from errors in pre-mRNA splicing.
- Understanding the impact of genetic variation on splicing is crucial for human genetics.
Purpose of the Study:
- To investigate the link between genetic variation and pre-mRNA splicing.
- To explore how single nucleotide polymorphisms (SNPs) influence alternative splicing patterns.
- To determine if allele-specific alternative splicing contributes to human population diversity.
Main Methods:
- Analysis of genetic data to identify SNPs.
- Correlation studies between identified SNPs and alternative splicing events.
- Examination of heritable changes in splicing patterns.
Main Results:
- Identification of SNPs associated with heritable changes in alternative splicing.
- Demonstration that these SNPs do not directly cause disease.
- Evidence supporting allele-specific alternative splicing as a source of human variation.
Conclusions:
- Single nucleotide polymorphisms (SNPs) can modify pre-mRNA splicing without causing disease.
- Allele-specific alternative splicing is a significant factor in human genetic diversity.
- This mechanism explains a portion of individual variation within the human population.
Related Concept Videos
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:32RNA Splicing
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...
01:32RNA Splicing
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...
01:05Single Nucleotide Polymorphisms-SNPs
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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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%...
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%...