Related Experiment Video
Updated: May 1, 2026
05:22
Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
Published on: September 13, 2024
1.3K
Large-scale analysis of tandem repeat variability in the human genome
Jorge Duitama1, Alena Zablotskaya2, Rita Gemayel3
1VIB lab for Systems Biology & CMPG Lab for Genetics and Genomics, KU Leuven, B-3001 Leuven, Belgium Agrobiodiversity Research Area, International Center for Tropical Agriculture (CIAT), Cali, Colombia Guy.Froyen@med.kuleuven.be.
Nucleic Acids Research
|April 1, 2014
Summary
Tandem repeats, variable DNA sequences, are crucial for adaptation and disease. A new method enables their accurate sequencing, revealing significant genetic variation within families and potential links to neurodegenerative conditions.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Tandem repeats are repetitive DNA sequences with functional significance in gene regulation and organismal adaptation.
- Variations and expansions in tandem repeats are implicated in neurodegenerative diseases and phenotypic variability.
- Technical challenges in sequencing and mapping tandem repeats have limited their study.
Purpose of the Study:
- To develop and validate a novel method for simultaneous sequencing of thousands of tandem repeats.
- To investigate the extent of tandem repeat variation within a human family.
- To identify potential de novo variations and disease-related repeats.
Main Methods:
- A novel capture technique and data filtering protocol were employed.
- Simultaneous sequencing of thousands of tandem repeats was performed using GS-FLX-plus Titanium technology.
- Analysis was conducted on the genomes of a three-generation family.
Main Results:
- Up to 7.6% of tandem repeats differed from the reference sequence in the studied family.
- 4% of variations were found within coding sequences.
- A de novo tandem repeat variation was identified within the family tree.
Conclusions:
- The developed method overcomes technical limitations, enabling comprehensive analysis of tandem repeat variability.
- This approach can enhance understanding of phenotypic variation and identify novel disease-associated repeats.
- The study highlights the underappreciated role of tandem repeats in human genetics and disease.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
11.6K
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%...
11.6K
01:05Single Nucleotide Polymorphisms-SNPs
14.6K
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,...
14.6K
02:54Evolutionary Relationships through Genome Comparisons
5.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.8K
01:11Genome-wide Association Studies-GWAS
12.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.6K
02:51Multi-species Conserved Sequences
3.3K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.3K
01:29Modern Molecular Taxonomy
836
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
836